Contact Information

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore, MS, CGC

Genetic and Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Matthew T Pastore

Biography

Matthew T. Pastore, MS, CGC, received his Undergraduate Degree in Genetics and Psychology at The Ohio State University and he received his Master’s Degree in Medical Genetics from Indiana University. He began working at Nationwide Children’s Hospital in January 2004 as a pediatric genetic counselor and sees patients in whom there is a suspected or known genetic condition and provides coordination of testing as well as education to families and patients. Matt is also involved with specialty clinics for cystic fibrosis and muscular dystrophy. Within the cystic fibrosis clinic, Matt is the primary genetic counselor for the Cystic Fibrosis Newborn Screening Program, where children with an abnormal newborn screen for cystic fibrosis are evaluated to see if the child has the condition. As a part of the newborn clinic visit, the implications of the results are discussed including what it means for the baby and what it means for other family members. For the Muscular Dystrophy Association (MDA) multidisciplinary clinic, Matt assists in the diagnostic evaluation for those with a suspected neuromuscular disease as well as provides risk assessment and educates patients and families regarding the implications of a diagnosis of various muscular dystrophies. Matt has served as the Genetic Counselor Lead since 2014.

Awards, Honors & Organizations

Co-chair, NSGC Cystic Fibrosis Special Interest Group (SIG), 2016 - 2017 Review Committee Member, NSGC CEU, 2015 - Present Member, NSGC Cystic Fibrosis Special Interest Group (SIG), 2013 - Present Member, NSGC Pediatric Genetics Special Interest Group (SIG), 2004 - 2017 Member, National Society of Genetic Counselors, 2003 - Present Member, NSGC Cancer Genetics Special Interest Group (SIG), 2003 - 2003

Research

Publications

                  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.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;  

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  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.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 01/26/2004

Graduate School

Indiana University

Date Completed: 05/31/2003

Undergraduate School

The Ohio State University

Date Completed: 06/30/2000

Professional Experience

2014 - Present Nationwide Children’s Hospital, Genetic Counselor Lead2004 - 2014 Nationwide Children’s Hospital, Genetic Counselor2003 - 2004 The Ohio State University, Genetic Counselor

Contact Information

Genetic and Genomic Medicine

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore, MS, CGC

Genetic and Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Matthew T Pastore

Biography

Matthew T. Pastore, MS, CGC, received his Undergraduate Degree in Genetics and Psychology at The Ohio State University and he received his Master’s Degree in Medical Genetics from Indiana University. He began working at Nationwide Children’s Hospital in January 2004 as a pediatric genetic counselor and sees patients in whom there is a suspected or known genetic condition and provides coordination of testing as well as education to families and patients. Matt is also involved with specialty clinics for cystic fibrosis and muscular dystrophy. Within the cystic fibrosis clinic, Matt is the primary genetic counselor for the Cystic Fibrosis Newborn Screening Program, where children with an abnormal newborn screen for cystic fibrosis are evaluated to see if the child has the condition. As a part of the newborn clinic visit, the implications of the results are discussed including what it means for the baby and what it means for other family members. For the Muscular Dystrophy Association (MDA) multidisciplinary clinic, Matt assists in the diagnostic evaluation for those with a suspected neuromuscular disease as well as provides risk assessment and educates patients and families regarding the implications of a diagnosis of various muscular dystrophies. Matt has served as the Genetic Counselor Lead since 2014.

Awards, Honors & Organizations

Co-chair, NSGC Cystic Fibrosis Special Interest Group (SIG), 2016 - 2017 Review Committee Member, NSGC CEU, 2015 - Present Member, NSGC Cystic Fibrosis Special Interest Group (SIG), 2013 - Present Member, NSGC Pediatric Genetics Special Interest Group (SIG), 2004 - 2017 Member, National Society of Genetic Counselors, 2003 - Present Member, NSGC Cancer Genetics Special Interest Group (SIG), 2003 - 2003

Research

Publications

                  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.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;  

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  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.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 01/26/2004

Graduate School

Indiana University

Date Completed: 05/31/2003

Undergraduate School

The Ohio State University

Date Completed: 06/30/2000

Professional Experience

2014 - Present Nationwide Children’s Hospital, Genetic Counselor Lead2004 - 2014 Nationwide Children’s Hospital, Genetic Counselor2003 - 2004 The Ohio State University, Genetic Counselor

Contact Information

Genetic and Genomic Medicine

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore, MS, CGC

Genetic and Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Matthew T Pastore

Contact Information

  • Call us at:
  • (614) 722-2465
  • Fax us at:
  • (614) 722-3546
  • Email Matthew T Pastore, MS, CGC
  • Genetic and Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Matthew T Pastore

Biography

Matthew T. Pastore, MS, CGC, received his Undergraduate Degree in Genetics and Psychology at The Ohio State University and he received his Master’s Degree in Medical Genetics from Indiana University. He began working at Nationwide Children’s Hospital in January 2004 as a pediatric genetic counselor and sees patients in whom there is a suspected or known genetic condition and provides coordination of testing as well as education to families and patients. Matt is also involved with specialty clinics for cystic fibrosis and muscular dystrophy. Within the cystic fibrosis clinic, Matt is the primary genetic counselor for the Cystic Fibrosis Newborn Screening Program, where children with an abnormal newborn screen for cystic fibrosis are evaluated to see if the child has the condition. As a part of the newborn clinic visit, the implications of the results are discussed including what it means for the baby and what it means for other family members. For the Muscular Dystrophy Association (MDA) multidisciplinary clinic, Matt assists in the diagnostic evaluation for those with a suspected neuromuscular disease as well as provides risk assessment and educates patients and families regarding the implications of a diagnosis of various muscular dystrophies. Matt has served as the Genetic Counselor Lead since 2014.

Biography

Matthew T. Pastore, MS, CGC, received his Undergraduate Degree in Genetics and Psychology at The Ohio State University and he received his Master’s Degree in Medical Genetics from Indiana University. He began working at Nationwide Children’s Hospital in January 2004 as a pediatric genetic counselor and sees patients in whom there is a suspected or known genetic condition and provides coordination of testing as well as education to families and patients. Matt is also involved with specialty clinics for cystic fibrosis and muscular dystrophy. Within the cystic fibrosis clinic, Matt is the primary genetic counselor for the Cystic Fibrosis Newborn Screening Program, where children with an abnormal newborn screen for cystic fibrosis are evaluated to see if the child has the condition. As a part of the newborn clinic visit, the implications of the results are discussed including what it means for the baby and what it means for other family members. For the Muscular Dystrophy Association (MDA) multidisciplinary clinic, Matt assists in the diagnostic evaluation for those with a suspected neuromuscular disease as well as provides risk assessment and educates patients and families regarding the implications of a diagnosis of various muscular dystrophies. Matt has served as the Genetic Counselor Lead since 2014.

Biography

Matthew T. Pastore, MS, CGC, received his Undergraduate Degree in Genetics and Psychology at The Ohio State University and he received his Master’s Degree in Medical Genetics from Indiana University. He began working at Nationwide Children’s Hospital in January 2004 as a pediatric genetic counselor and sees patients in whom there is a suspected or known genetic condition and provides coordination of testing as well as education to families and patients. Matt is also involved with specialty clinics for cystic fibrosis and muscular dystrophy. Within the cystic fibrosis clinic, Matt is the primary genetic counselor for the Cystic Fibrosis Newborn Screening Program, where children with an abnormal newborn screen for cystic fibrosis are evaluated to see if the child has the condition. As a part of the newborn clinic visit, the implications of the results are discussed including what it means for the baby and what it means for other family members. For the Muscular Dystrophy Association (MDA) multidisciplinary clinic, Matt assists in the diagnostic evaluation for those with a suspected neuromuscular disease as well as provides risk assessment and educates patients and families regarding the implications of a diagnosis of various muscular dystrophies. Matt has served as the Genetic Counselor Lead since 2014.

Matthew T. Pastore, MS, CGC, received his Undergraduate Degree in Genetics and Psychology at The Ohio State University and he received his Master’s Degree in Medical Genetics from Indiana University. He began working at Nationwide Children’s Hospital in January 2004 as a pediatric genetic counselor and sees patients in whom there is a suspected or known genetic condition and provides coordination of testing as well as education to families and patients. Matt is also involved with specialty clinics for cystic fibrosis and muscular dystrophy. Within the cystic fibrosis clinic, Matt is the primary genetic counselor for the Cystic Fibrosis Newborn Screening Program, where children with an abnormal newborn screen for cystic fibrosis are evaluated to see if the child has the condition. As a part of the newborn clinic visit, the implications of the results are discussed including what it means for the baby and what it means for other family members. For the Muscular Dystrophy Association (MDA) multidisciplinary clinic, Matt assists in the diagnostic evaluation for those with a suspected neuromuscular disease as well as provides risk assessment and educates patients and families regarding the implications of a diagnosis of various muscular dystrophies. Matt has served as the Genetic Counselor Lead since 2014.

Matthew T. Pastore, MS, CGC, received his Undergraduate Degree in Genetics and Psychology at The Ohio State University and he received his Master’s Degree in Medical Genetics from Indiana University. He began working at Nationwide Children’s Hospital in January 2004 as a pediatric genetic counselor and sees patients in whom there is a suspected or known genetic condition and provides coordination of testing as well as education to families and patients. Matt is also involved with specialty clinics for cystic fibrosis and muscular dystrophy. Within the cystic fibrosis clinic, Matt is the primary genetic counselor for the Cystic Fibrosis Newborn Screening Program, where children with an abnormal newborn screen for cystic fibrosis are evaluated to see if the child has the condition. As a part of the newborn clinic visit, the implications of the results are discussed including what it means for the baby and what it means for other family members. For the Muscular Dystrophy Association (MDA) multidisciplinary clinic, Matt assists in the diagnostic evaluation for those with a suspected neuromuscular disease as well as provides risk assessment and educates patients and families regarding the implications of a diagnosis of various muscular dystrophies. Matt has served as the Genetic Counselor Lead since 2014.

Awards, Honors & Organizations

Co-chair, NSGC Cystic Fibrosis Special Interest Group (SIG), 2016 - 2017 Review Committee Member, NSGC CEU, 2015 - Present Member, NSGC Cystic Fibrosis Special Interest Group (SIG), 2013 - Present Member, NSGC Pediatric Genetics Special Interest Group (SIG), 2004 - 2017 Member, National Society of Genetic Counselors, 2003 - Present Member, NSGC Cancer Genetics Special Interest Group (SIG), 2003 - 2003

Awards, Honors & Organizations

Co-chair, NSGC Cystic Fibrosis Special Interest Group (SIG), 2016 - 2017 Review Committee Member, NSGC CEU, 2015 - Present Member, NSGC Cystic Fibrosis Special Interest Group (SIG), 2013 - Present Member, NSGC Pediatric Genetics Special Interest Group (SIG), 2004 - 2017 Member, National Society of Genetic Counselors, 2003 - Present Member, NSGC Cancer Genetics Special Interest Group (SIG), 2003 - 2003

Awards, Honors & Organizations

Co-chair, NSGC Cystic Fibrosis Special Interest Group (SIG), 2016 - 2017 Review Committee Member, NSGC CEU, 2015 - Present Member, NSGC Cystic Fibrosis Special Interest Group (SIG), 2013 - Present Member, NSGC Pediatric Genetics Special Interest Group (SIG), 2004 - 2017 Member, National Society of Genetic Counselors, 2003 - Present Member, NSGC Cancer Genetics Special Interest Group (SIG), 2003 - 2003

Co-chair, NSGC Cystic Fibrosis Special Interest Group (SIG), 2016 - 2017 Review Committee Member, NSGC CEU, 2015 - Present Member, NSGC Cystic Fibrosis Special Interest Group (SIG), 2013 - Present Member, NSGC Pediatric Genetics Special Interest Group (SIG), 2004 - 2017 Member, National Society of Genetic Counselors, 2003 - Present Member, NSGC Cancer Genetics Special Interest Group (SIG), 2003 - 2003

  • Co-chair, NSGC Cystic Fibrosis Special Interest Group (SIG), 2016 - 2017
  • Review Committee Member, NSGC CEU, 2015 - Present
  • Member, NSGC Cystic Fibrosis Special Interest Group (SIG), 2013 - Present
  • Member, NSGC Pediatric Genetics Special Interest Group (SIG), 2004 - 2017
  • Member, National Society of Genetic Counselors, 2003 - Present
  • Member, NSGC Cancer Genetics Special Interest Group (SIG), 2003 - 2003

Research

Publications

                  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.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;  

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  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.

View More Publications

Research

Publications

                  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.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;  

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  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.

View More Publications

Research

Publications

                  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.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;  

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  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.

View More Publications

Publications

                  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.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;  

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  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.

View More Publications

                  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.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;  

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  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.

View More Publications

  • 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.
  • Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.
  • Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Jul 3;
  • Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.
  • 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.

Education

Date of Appointment at Nationwide Children’s Hospital: 01/26/2004

Graduate School

Indiana University

Date Completed: 05/31/2003

Undergraduate School

The Ohio State University

Date Completed: 06/30/2000

Education

Date of Appointment at Nationwide Children’s Hospital: 01/26/2004

Graduate School

Indiana University

Date Completed: 05/31/2003

Undergraduate School

The Ohio State University

Date Completed: 06/30/2000

Education

Date of Appointment at Nationwide Children’s Hospital: 01/26/2004

Graduate School

Indiana University

Date Completed: 05/31/2003

Undergraduate School

The Ohio State University

Date Completed: 06/30/2000

Date of Appointment at Nationwide Children’s Hospital: 01/26/2004

Graduate School

Indiana University

Date Completed: 05/31/2003

Undergraduate School

The Ohio State University

Date Completed: 06/30/2000

Date of Appointment at Nationwide Children’s Hospital: 01/26/2004

Graduate School

Indiana University

Date Completed: 05/31/2003

Undergraduate School

The Ohio State University

Date Completed: 06/30/2000

Professional Experience

2014 - Present Nationwide Children’s Hospital, Genetic Counselor Lead2004 - 2014 Nationwide Children’s Hospital, Genetic Counselor2003 - 2004 The Ohio State University, Genetic Counselor

Professional Experience

2014 - Present Nationwide Children’s Hospital, Genetic Counselor Lead2004 - 2014 Nationwide Children’s Hospital, Genetic Counselor2003 - 2004 The Ohio State University, Genetic Counselor

Professional Experience

2014 - Present Nationwide Children’s Hospital, Genetic Counselor Lead2004 - 2014 Nationwide Children’s Hospital, Genetic Counselor2003 - 2004 The Ohio State University, Genetic Counselor

2014 - Present Nationwide Children’s Hospital, Genetic Counselor Lead2004 - 2014 Nationwide Children’s Hospital, Genetic Counselor2003 - 2004 The Ohio State University, Genetic Counselor

2014 - Present Nationwide Children’s Hospital, Genetic Counselor Lead

Contact Information

Genetic and Genomic Medicine

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Genetic and Genomic Medicine

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Genetic and Genomic Medicine

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)

Genetic and Genomic Medicine

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)

Call us at: (614) 722-2465

Fax us at: (614) 722-3546

Email Matthew T Pastore

                    700 Children's DriveColumbus, OH 43205 (map)
  • Call us at:
  • (614) 722-2465
  • Fax us at:
  • (614) 722-3546
  • Email Matthew T Pastore
  • 700 Children’s DriveColumbus, OH 43205 (map)