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Author Details

Matthew Pastore
Nationwide Children's Hospital, The Ohio State University College of Medicine
2003
29
15
PMIDPaper TitleJournal TitlePublished Year
35779835Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.Eur J Med Genet2022
34345025Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med2021
32452540Lessons learned from 40 novel PIGA patients and a review of the literature.Epilepsia2020
30665247Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.Neuropediatrics2019
31267042Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.Genet Med2019
31568715Characterization of the renal phenotype in RMND1-related mitochondrial disease.Mol Genet Genomic Med2019
31155615Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.Genet Med2019
30909959Correction 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 Med2019
30819258De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome Med2019
29515625Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.Front Genet2018
28742085Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.PLoS Genet2017
28194692Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.World J Pediatr2017
27480077SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.Am J Med Genet A2016
25326669De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.Hum Genet2015
23695283Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.Eur J Hum Genet2014
25439098Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.Am J Hum Genet2014
23523602Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.Eur J Med Genet2013
24080358MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.Eur J Med Genet2013
21480868Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.Clin Genet2012
21673536A novel exon duplication of the cystic fibrosis transmembrane conductance regulator in a patient presenting with adult-onset recurrent pancreatitis.Pancreas2011
22065502Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.Am J Med Genet A2011
20358616A tale of two deletions: a report of two novel 20p13 --> pter deletions.Am J Med Genet A2010
20683981Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.Am J Med Genet A2010
20533527Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.Autism Res2010
19265751The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.Genet Med2009
17505203Genetic testing in autism: how much is enough?Genet Med2007
17286265Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.Am J Med Genet A2007
16353251Trisomy 16p: a longitudinal profile and photo essay.Am J Med Genet A2006
12515823A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.J Cell Biol2003
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Collaborators

12306The Ohio State University
Co-authored papers 5
Baylor College of Medicine
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Pathology and Laboratory Medicine Institute, Cleveland Clinic
Co-authored papers 4
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Co-authored papers 4
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Co-authored papers 4
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Co-authored papers 3
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Co-authored papers 2
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Co-authored papers 2
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 2
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Co-authored papers 2
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Nationwide Children's Hospital
Co-authored papers 2
Co-authored papers 2
HudsonAlpha Institute for Biotechnology
Co-authored papers 2
Co-authored papers 2
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 2
University Medical Center Groningen
Co-authored papers 1
Research Institute at Nationwide Childrens Hospital, University of Iowa
Co-authored papers 1
University of Manchester
Co-authored papers 1
Baylor College of Medicine
Co-authored papers 1
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Clinical Laboratory, Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 1
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National Institutes of Health Undiagnosed Diseases Program
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The Abigail Wexner Research Institute, Nationwide Children's Hospital
Co-authored papers 1