Kim L Mcbride

Contact Information

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kim L. McBride

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Awards, Honors & Organizations

Listed, Best Doctors in America Therapeutics Committee, American College of Medical Genetics, 2015 - Present Fellow, American Heart Association, 2013 - Present Member, American Society of Human Genetic, 2000 - Present Member, American College of Medical Genetics, 2000 - Present

Research

Publications

                  Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;  

                


                  Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;  

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.

                


                  Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.

                


                  Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2: 

                


                  Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;  

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.

                


                  Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.

                


                  Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.

                


                  Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6: 

                


                  Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.

                


                  Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;  

                


                  Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;  

                


                  Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.

                


                  Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.

                


                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;  

                


                  Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;  

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;  

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.

                


                  McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;  

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;  

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.

                


                  Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.

                


                  Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.

                


                  McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10: 

                


                  Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 03/01/2022

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 07/01/2003

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 03/30/2002

Residency

Mayo Clinic (Rochester)

Date Completed: 06/30/2000

Internship

University of Saskatchewan College of Medicine

Date Completed: 06/30/1988

Medical School

University of Saskatchewan

Date Completed: 05/20/1987

Contact Information

Pediatrics

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Contact Information

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kim L. McBride

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Awards, Honors & Organizations

Research

Publications

                  Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;  

                


                  Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;  

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.

                


                  Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.

                


                  Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2: 

                


                  Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;  

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.

                


                  Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.

                


                  Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.

                


                  Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6: 

                


                  Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.

                


                  Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;  

                


                  Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;  

                


                  Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.

                


                  Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.

                


                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;  

                


                  Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;  

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;  

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.

                


                  McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;  

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;  

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.

                


                  Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.

                


                  Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.

                


                  McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10: 

                


                  Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 03/01/2022

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 07/01/2003

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 03/30/2002

Residency

Mayo Clinic (Rochester)

Date Completed: 06/30/2000

Internship

University of Saskatchewan College of Medicine

Date Completed: 06/30/1988

Medical School

University of Saskatchewan

Date Completed: 05/20/1987

Contact Information

Pediatrics

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Contact Information

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kim L. McBride

Contact Information

Call us at:
(614) 722-3535
Fax us at:
(614) 722-3546
PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kim L. McBride

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo

Awards, Honors & Organizations

Listed, Best Doctors in America
Therapeutics Committee, American College of Medical Genetics, 2015 - Present
Fellow, American Heart Association, 2013 - Present
Member, American Society of Human Genetic, 2000 - Present
Member, American College of Medical Genetics, 2000 - Present

Research

Publications

                  Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;  

                


                  Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;  

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.

                


                  Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.

                


                  Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2: 

                


                  Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;  

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.

                


                  Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.

                


                  Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.

                


                  Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6: 

                


                  Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.

                


                  Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;  

                


                  Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;  

                


                  Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.

                


                  Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.

                


                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;  

                


                  Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;  

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;  

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.

                


                  McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;  

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;  

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.

                


                  Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.

                


                  Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.

                


                  McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10: 

                


                  Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

View More Publications

Research

Publications

                  Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;  

                


                  Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;  

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.

                


                  Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.

                


                  Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2: 

                


                  Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;  

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.

                


                  Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.

                


                  Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.

                


                  Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6: 

                


                  Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.

                


                  Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;  

                


                  Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;  

                


                  Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.

                


                  Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.

                


                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;  

                


                  Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;  

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;  

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.

                


                  McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;  

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;  

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.

                


                  Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.

                


                  Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.

                


                  McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10: 

                


                  Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

View More Publications

Research

Publications

                  Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;  

                


                  Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;  

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.

                


                  Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.

                


                  Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2: 

                


                  Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;  

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.

                


                  Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.

                


                  Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.

                


                  Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6: 

                


                  Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.

                


                  Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;  

                


                  Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;  

                


                  Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.

                


                  Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.

                


                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;  

                


                  Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;  

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;  

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.

                


                  McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;  

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;  

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.

                


                  Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.

                


                  Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.

                


                  McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10: 

                


                  Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

View More Publications

Publications

                  Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;  

                


                  Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;  

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.

                


                  Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.

                


                  Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2: 

                


                  Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;  

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.

                


                  Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.

                


                  Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.

                


                  Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6: 

                


                  Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.

                


                  Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;  

                


                  Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;  

                


                  Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.

                


                  Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.

                


                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;  

                


                  Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;  

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;  

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.

                


                  McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;  

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;  

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.

                


                  Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.

                


                  Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.

                


                  McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10: 

                


                  Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

View More Publications

                  Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;  

                


                  Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;  

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.

                


                  Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.

                


                  Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2: 

                


                  Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;  

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.

                


                  Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.

                


                  Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.

                


                  Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6: 

                


                  Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.

                


                  Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;  

                


                  Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;  

                


                  Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.

                


                  Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.

                


                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;  

                


                  Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;  

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;  

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.

                


                  Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.

                


                  McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;  

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;  

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.

                


                  Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.

                


                  Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.

                


                  McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10: 

                


                  Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

View More Publications

Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;
Bennett JS, Gordon DM, Majumdar U, Lawrence PJ, Matos-Nieves A, Myers K, Kamp AN, Leonard JC, McBride KL, White P, Garg V. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease. Heart Rhythm. 2021 Dec 24;
Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;
Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.
Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-a deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 8; 2:
Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genet Couns. 2021 Jul 15;
Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.
McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.
Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18; 12: 1135.
Matos-Nieves A, Manivannan S, Majumdar U, McBride KL, White P, Garg V. A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes. Front Cardiovasc Med. 2021; 8: 683074.
Lin H, McBride KL, Garg V, Zhao MT. Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs). Front Cell Dev Biol. 2021; 9: 630069.
Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Cold Spring Harb Mol Case Stud. 2020 Jun; 6:
Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS Genet. 2020 May; 16: e1008639.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczaluba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 May 26;
Cua CL, Morrison AK, McBride K, McConnell PI. Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. Ann Thorac Surg. 2020 Mar 6;
Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res. 2020 Jan; 87: 338-344.
Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. Pediatr Cardiol. 2019 Dec; 40: 1679-1687.
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5:
Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.
Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;
Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome. Cold Spring Harb Mol Case Stud. 2019 Jun 6;
Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 May 1;
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11: 16.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study., Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11: 12.
McBride KL, Pluciniczak J, Rhyand T, Bartholomew D. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genet Med. 2019 Jan 10;
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4:
Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM, ACMG Professional Practice and Guidelines Committee.. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jun 14;
Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.
Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24: 281-302.
Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J. 2018 Mar 21; 39: 1015-1022.
Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.
Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. Pediatr Cardiol. 2017 Dec; 38: 1709-1715.
Vatti L, Fitzgerald-Butt SM, McBride KL. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. Am J Med Genet A. 2017 Nov; 173: 2995-3002.
McBride KL, Ware SM. Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers. Circ Cardiovasc Genet. 2017 Oct; 10:
Hanchard NA, Umana LA, D’Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173: 2176-2188.
Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

Education

Date of Appointment at Nationwide Children’s Hospital: 03/01/2022

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 07/01/2003

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 03/30/2002

Residency

Mayo Clinic (Rochester)

Date Completed: 06/30/2000

Internship

University of Saskatchewan College of Medicine

Date Completed: 06/30/1988

Medical School

University of Saskatchewan

Date Completed: 05/20/1987

Education

Date of Appointment at Nationwide Children’s Hospital: 03/01/2022

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 07/01/2003

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 03/30/2002

Residency

Mayo Clinic (Rochester)

Date Completed: 06/30/2000

Internship

University of Saskatchewan College of Medicine

Date Completed: 06/30/1988

Medical School

University of Saskatchewan

Date Completed: 05/20/1987

Education

Date of Appointment at Nationwide Children’s Hospital: 03/01/2022

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 07/01/2003

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 03/30/2002

Residency

Mayo Clinic (Rochester)

Date Completed: 06/30/2000

Internship

University of Saskatchewan College of Medicine

Date Completed: 06/30/1988

Medical School

University of Saskatchewan

Date Completed: 05/20/1987

Date of Appointment at Nationwide Children’s Hospital: 03/01/2022

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 07/01/2003

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 03/30/2002

Residency

Mayo Clinic (Rochester)

Date Completed: 06/30/2000

Internship

University of Saskatchewan College of Medicine

Date Completed: 06/30/1988

Medical School

University of Saskatchewan

Date Completed: 05/20/1987

Date of Appointment at Nationwide Children’s Hospital: 03/01/2022

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 07/01/2003

Fellowship

Baylor Affiliated Hospitals (Houston)

Date Completed: 03/30/2002

Residency

Mayo Clinic (Rochester)

Date Completed: 06/30/2000

Internship

University of Saskatchewan College of Medicine

Date Completed: 06/30/1988

Medical School

University of Saskatchewan

Date Completed: 05/20/1987

Contact Information

Pediatrics

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Contact Information

Pediatrics

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Contact Information

Pediatrics

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Pediatrics

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Call us at: (614) 722-3535

Fax us at: (614) 722-3546

Call us at:
(614) 722-3535
Fax us at:
(614) 722-3546

Contact Information#

Contact Information