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 Kristen V. Truxal
Patient Care
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Academic and Clinical Areas
Genetic and Genomic Medicine
Physician Team
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Center for Gene Therapy
Associate Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Research
Lab(s)
Center for Gene Therapy
Publications
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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: 07/01/2016
Board Certifications
Clinical Genetics and Genomics Pediatrics
Fellowship
Nationwide Children’s Hospital
Date Completed: 06/30/2015
Residency
Nationwide Children’s Hospital
Date Completed: 06/30/2016
Residency
A.I. duPont Hospital for Children
Date Completed: 06/30/2012
Medical School
Ohio State University College of Medicine
Date Completed: 06/14/2009
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
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 Kristen V. Truxal
Patient Care
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Academic and Clinical Areas
Genetic and Genomic Medicine
Physician Team
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Center for Gene Therapy
Associate Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Research
Lab(s)
Center for Gene Therapy
Publications
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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: 07/01/2016
Board Certifications
Clinical Genetics and Genomics Pediatrics
Fellowship
Nationwide Children’s Hospital
Date Completed: 06/30/2015
Residency
Nationwide Children’s Hospital
Date Completed: 06/30/2016
Residency
A.I. duPont Hospital for Children
Date Completed: 06/30/2012
Medical School
Ohio State University College of Medicine
Date Completed: 06/14/2009
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
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 Kristen V. Truxal
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 Kristen V. Truxal
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
Academic and Clinical Areas
Genetic and Genomic Medicine
Physician Team
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Center for Gene Therapy
Associate Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Academic and Clinical Areas
Genetic and Genomic Medicine
Physician Team
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Center for Gene Therapy
Associate Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Academic and Clinical Areas
Genetic and Genomic Medicine
Physician Team
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Center for Gene Therapy
Associate Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Genetic and Genomic Medicine
Physician Team
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Center for Gene Therapy
Associate Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
- Genetic and Genomic Medicine
- Physician Team
- Medical Biochemical Genetics Fellowship
- Faculty
- Medical Genetics Residency
- Faculty
- Center for Gene Therapy
- Associate Faculty
- Primary Department
- Pediatrics
- Primary Section
- Genetic and Genomic Medicine
Research
Lab(s)
Center for Gene Therapy
Publications
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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
Lab(s)
Center for Gene Therapy
Publications
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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
Lab(s)
Center for Gene Therapy
Publications
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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
Lab(s)
Center for Gene Therapy
Publications
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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
Lab(s)
Center for Gene Therapy
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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
Lab(s)
Center for Gene Therapy
Center for Gene Therapy
Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep. 2022 Feb; 10: e05277.
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.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium., Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18;
Pabst L, Carroll J, Lo W, Truxal KV. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? Am J Med Genet A. 2021 Jan; 185: 223-227.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 May; 182: 1201-1208.
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.
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.
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.
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: 07/01/2016
Board Certifications
Clinical Genetics and Genomics Pediatrics
Fellowship
Nationwide Children’s Hospital
Date Completed: 06/30/2015
Residency
Nationwide Children’s Hospital
Date Completed: 06/30/2016
Residency
A.I. duPont Hospital for Children
Date Completed: 06/30/2012
Medical School
Ohio State University College of Medicine
Date Completed: 06/14/2009
Education
Date of Appointment at Nationwide Children’s Hospital: 07/01/2016
Board Certifications
Clinical Genetics and Genomics Pediatrics
Fellowship
Nationwide Children’s Hospital
Date Completed: 06/30/2015
Residency
Nationwide Children’s Hospital
Date Completed: 06/30/2016
Residency
A.I. duPont Hospital for Children
Date Completed: 06/30/2012
Medical School
Ohio State University College of Medicine
Date Completed: 06/14/2009
Education
Date of Appointment at Nationwide Children’s Hospital: 07/01/2016
Board Certifications
Clinical Genetics and Genomics Pediatrics
Fellowship
Nationwide Children’s Hospital
Date Completed: 06/30/2015
Residency
Nationwide Children’s Hospital
Date Completed: 06/30/2016
Residency
A.I. duPont Hospital for Children
Date Completed: 06/30/2012
Medical School
Ohio State University College of Medicine
Date Completed: 06/14/2009
Date of Appointment at Nationwide Children’s Hospital: 07/01/2016
Board Certifications
Clinical Genetics and Genomics Pediatrics
Fellowship
Nationwide Children’s Hospital
Date Completed: 06/30/2015
Residency
Nationwide Children’s Hospital
Date Completed: 06/30/2016
Residency
A.I. duPont Hospital for Children
Date Completed: 06/30/2012
Medical School
Ohio State University College of Medicine
Date Completed: 06/14/2009
Date of Appointment at Nationwide Children’s Hospital: 07/01/2016
Board Certifications
Clinical Genetics and Genomics Pediatrics
Fellowship
Nationwide Children’s Hospital
Date Completed: 06/30/2015
Residency
Nationwide Children’s Hospital
Date Completed: 06/30/2016
Residency
A.I. duPont Hospital for Children
Date Completed: 06/30/2012
Medical School
Ohio State University College of Medicine
Date Completed: 06/14/2009
- Clinical Genetics and Genomics
- Pediatrics
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
- Call us at:
- (614) 722-3535
- Fax us at:
- (614) 722-3546
- Genetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)
