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Author Details

Jennifer L Goldstein
University of North Carolina at Chapel Hill
2003
36
20
PMIDPaper TitleJournal TitlePublished Year
37236006Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.Mol Genet Metab2023
35754516Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.Cell Genom2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
31754268Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.Genet Med2020
30681346Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.Circ Genom Precis Med2019
31086307Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.Genet Med2019
29506905Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.Eur J Paediatr Neurol2018
30311372The progression of the ClinGen gene clinical validity classification over time.Hum Mutat2018
29435807Treatment outcome of creatine transporter deficiency: international retrospective cohort study.Metab Brain Dis2018
28552198Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Am J Hum Genet2017
28283841Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.JIMD Rep2017
29122469Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Mol Genet Metab2017
27142465New observation of sialuria prompts detection of liver tumor in previously reported patient.Mol Genet Metab2016
27119313Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.Pediatr Res2016
25590979Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Genet Med2015
26937408Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.Mol Genet Metab Rep2015
26693141Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.Mol Genet Metab Rep2015
26133565CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.Genet Med2015
25681082Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.JIMD Rep2015
25741864CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.Genet Med2015
24186872Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.Hum Mol Genet2014
24338800Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.Muscle Nerve2014
24389071Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.Mol Genet Metab2014
23583224Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.Mol Genet Metab2013
21857251Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.J Pediatr Gastroenterol Nutr2012
22847950Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.Am J Med Genet A2012
22252961Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.Am J Med Genet C Semin Med Genet2012
22252923Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.Am J Med Genet C Semin Med Genet2012
21484825Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.Muscle Nerve2011
21911307Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.Mol Genet Metab2011
20058079Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.J Inherit Metab Dis2010
20648714Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.Genet Med2010
19466671Human exposure to selected animal neurocarcinogens: a biomarker-based assessment and implications for brain tumor epidemiology.J Toxicol Environ Health B Crit Rev2009
19533645Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.Muscle Nerve2009
16781308Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.J Am Acad Dermatol2006
14526392Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.Am J Hum Genet2003
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Collaborators

Jonathan S Berg
University of North Carolina
Co-authored papers 4
Yong-Hui Jiang
Yale University School of Medicine
Co-authored papers 3
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 3
Christa Lese Martin
Autism and Developmental Medicine Institute
Co-authored papers 3
Marina T DiStefano
Broad Institute of MIT and Harvard
Co-authored papers 3
Erin Rooney Riggs
Geisinger Autism & Developmental Medicine Institute
Co-authored papers 3
Courtney Thaxton
University of North Carolina at Chapel Hill
Co-authored papers 3
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 2
Natasha T Strande
USA Autism and Developmental Medicine Institute
Co-authored papers 2
Erin M Ramos
National Human Genome Research Institute
Co-authored papers 2
James S Ware
Co-authored papers 2
Birgit Funke
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 1
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 1
Laura K Conlin
Children's Hospital of Philadelphia
Co-authored papers 1
Loren D M Pena
Duke University Medical Center
Co-authored papers 1
Selina S Dwight
Stanford University School of Medicine
Co-authored papers 1
Michael F Murray
Yale School of Medicine
Co-authored papers 1
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 1
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 1
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 1
Martin den Heijer
Co-authored papers 1
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 1
J Michael Cherry
Stanford University
Co-authored papers 1
Bruce A Barshop
University of California San Diego
Co-authored papers 1
Vandana Shashi
Duke University School of Medicine
Co-authored papers 1
Alka Chaubey
Co-authored papers 1
Kathleen Wallace
University of North Carolina
Co-authored papers 1
Angharad M Roberts
National Heart and Lung Institute, Imperial College London
Co-authored papers 1
Quinn S Wells
Vanderbilt University Medical Center
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Ana Rath
INSERM
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