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Author Details

Susan M Hiatt
HudsonAlpha Institute for Biotechnology
2008
33
19
PMIDPaper TitleJournal TitlePublished Year
36711854Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv2023
37511639Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.J Pers Med2023
37403762Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.Genet Med2023
37161864Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genet Med2023
36586412Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.Am J Hum Genet2023
34930662Genome sequencing as a first-line diagnostic test for hospitalized infants.Genet Med2022
33961779Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.Am J Hum Genet2021
33843487The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.AJOB Empir Bioeth2021
33937879Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.HGG Adv2021
31879022ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.Am J Hum Genet2020
31999386BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.Hum Mutat2020
30639322ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.Am J Hum Genet2019
31327001Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.Brain2019
31267042Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.Genet Med2019
31155615Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.Genet Med2019
30739909Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.Genet Med2019
31024343A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.Front Physiol2019
29652076Systematic reanalysis of genomic data improves quality of variant interpretation.Clin Genet2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
30269351NBEA: Developmental disease gene with early generalized epilepsy phenotypes.Ann Neurol2018
30449657Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.Neuron2018
30500825De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.PLoS Genet2018
29790872Genomic sequencing identifies secondary findings in a cohort of parent study participants.Genet Med2018
29740699De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Hum Genet2018
28017373Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.Am J Hum Genet2017
29100083High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Am J Hum Genet2017
28554332Genomic diagnosis for children with intellectual disability and/or developmental delay.Genome Med2017
27830187Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy.Neurol Genet2016
24217909Current status and new features of the Consensus Coding Sequence database.Nucleic Acids Res2014
24259432RefSeq: an update on mammalian reference sequences.Nucleic Acids Res2014
19570917Caenorhabditis elegans FOS-1 and JUN-1 regulate plc-1 expression in the spermatheca to control ovulation.Mol Biol Cell2009
18388940Visualization of protein interactions in living Caenorhabditis elegans using bimolecular fluorescence complementation analysis.Nat Protoc2008
18586101Bimolecular fluorescence complementation (BiFC) analysis of protein interactions in Caenorhabditis elegans.Methods2008
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Collaborators

HudsonAlpha Institute for Biotechnology
Co-authored papers 23
Washington University School of Medicine
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University of Alabama at Birmingham
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Co-authored papers 5
Norton Children's Research Institute, University of Louisville School of Medicine
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Boston Children's Hospital, Harvard Medical School
Co-authored papers 4
HudsonAlpha Institute for Biotechnology
Co-authored papers 4
Co-authored papers 3
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Maastricht University Medical Centre
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HudsonAlpha Institute for Biotechnology
Co-authored papers 2
Icahn School of Medicine at Mount Sinai, NY Institute for Genomic Health
Co-authored papers 2
Medical University of Warsaw
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National Center for Biotechnology Information, National Institutes of Health
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Great Ormond Street Hospital NHS Foundation Trust
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