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Author Details

Julie S Cohen
Kennedy Krieger Institute
2007
65
27
PMIDPaper TitleJournal TitlePublished Year
37043503Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.Brain2023
37483011A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.Ann Clin Transl Neurol2023
36083290Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.Genet Med2022
35871307ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.Ann Clin Transl Neurol2022
36279113Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.JAMA Neurol2022
33432185Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.Nat Genet2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
34790866<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.Neurol Genet2021
34519438Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Mol Genet Genomic Med2021
33976153Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.Nat Commun2021
34113010Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.Genet Med2021
34113002PIGG variant pathogenicity assessment reveals characteristic features within 19 families.Genet Med2021
34356165Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.Brain Sci2021
31501260Genetic Counseling in Neurodevelopmental Disorders.Cold Spring Harb Perspect Med2020
32030847Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.J Genet Couns2020
32097629Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.Neuron2020
32693025De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.Am J Hum Genet2020
32686290The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Am J Med Genet A2020
32989326Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.Nat Genet2020
32147972Expansion of the genetic landscape of ERLIN2-related disorders.Ann Clin Transl Neurol2020
32227164RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.Brain2020
30620337Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.J Clin Invest2019
31553105Challenges to informed consent for exome sequencing: A best-worst scaling experiment.J Genet Couns2019
31122837Vigabatrin as a Targeted Treatment of GABA<sub>B</sub> Receptor-Related Epileptic Encephalopathy.Pediatr Neurol2019
30827496Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.Am J Hum Genet2019
30817854SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.Hum Mutat2019
28661489FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.Genet Med2018
30185102ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.J Child Neurol2018
30151950De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.Am J Med Genet A2018
30087272Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.Brain Sci2018
30377530Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.SAGE Open Med Case Rep2018
30318729Clinical whole-exome sequencing results impact medical management.Mol Genet Genomic Med2018
29465611Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.J Clin Neuromuscul Dis2018
29436146Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.Am J Med Genet A2018
29368331Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.Clin Genet2018
29251763De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.Clin Genet2018
29322350Monogenic disorders that mimic the phenotype of Rett syndrome.Neurogenetics2018
28881385Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.Clin Genet2018
27598823Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Clin Genet2017
28346496Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.PLoS Genet2017
28286008Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.Pediatr Neurol2017
29220673De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.Am J Hum Genet2017
28650581Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.Am J Med Genet A2017
28667181<i>DNM1</i> encephalopathy: A new disease of vesicle fission.Neurology2017
26153216Loss-of-function variants in HIVEP2 are a cause of intellectual disability.Eur J Hum Genet2016
27834362A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.Eur J Hum Genet2016
27329733A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.Eur J Hum Genet2016
27352968Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Eur J Hum Genet2016
27282546BRAT1 mutations present with a spectrum of clinical severity.Am J Med Genet A2016
25534182Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life.Clin Genet2015
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Collaborators

Sakkubai Naidu
Kennedy Krieger Institute, Johns Hopkins Medical Institutions
Co-authored papers 8
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Division of Clinical Genomics
Co-authored papers 5
Zöe Powis
Co-authored papers 5
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Children's Hospital of Philadelphia
Co-authored papers 4
Megan T Cho
Co-authored papers 4
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Ingrid E Scheffer
Co-authored papers 3
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Siddharth Gupta
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Timothy Feyma
200 University Ave E
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Jonathan Pevsner
Kennedy Krieger Institute, Johns Hopkins University School of Medicine
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James F Gusella
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Luis Rohena
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Christopher A Walsh
Broad Institute of MIT and Harvard
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David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
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Patricia Ellen Grant
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Shozeb Haider
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Joseph G Gleeson
University of California
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Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
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Zornitza Stark
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