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Paper Details

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
4
2023
-associated missense variants, Arg141Gln, Arg761Gln, BRCA1-interacting nuclear helicase, CMT2, Charcot-Marie-Tooth disease, DDX, DExD/H-box RNA helicases, DExH-box helicase DHX9, DHX, DHX9, DHX9 ATPase, DHX9 variant, DHX9 variant alleles, Dhx9, Fibroblasts, Gly411Glu, HPO, Human, LoF variants, NDD, NDDs, NLS variant, R, cancer, cytoplasm, distal symmetric polyneuropathy axonal, double-stranded DNA breaks, human, human cell lines, human helicase genes, hypoactivity, mice, neurodevelopment disorders, neurodevelopmental disorder, paralogous gene family, sensorineural hearing loss, tremor, wild-type DHX9
Author NameAffiliation
Rebecca C SpillmannDuke University Medical Center, Duke University
Shalini N JhangianiBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine, School of Public Health, University of Texas Health Science Center at Houston
Seema R LalaniTexas Children's Hospital, Baylor College of Medicine
Tomi PastinenChildren's Mercy Hospital, USA University of Missouri Kansas City School of Medicine
Vandana ShashiDuke University Medical Center, Duke University
Wojciech WiszniewskiOregon Health & Sciences University
Jennifer E PoseyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Valerie Gailus-DurnerInstitute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health
Helmut FuchsInstitute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health
Martin Hrab?? de AngelisInstitute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Germany German Center for Diabetes Research (DZD), Technische Universitat Munchen
Martin Hrab?? de AngelisInstitute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Germany German Center for Diabetes Research (DZD), Technische Universitat Munchen
Sabine M H??lterInstitute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Germany Institute of Developmental Genetics, Germany Technische Universitat Munchen
James R LupskiTexas Children's Hospital, Baylor College of Medicine
James R LupskiTexas Children's Hospital, Baylor College of Medicine
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Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink