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Paper Details

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
14
2021
8q22.2, ARID1A, ARID1B, BRCA1, CREBBP, DubS, DubS phenotype, DubS-, HDAC8, NSUN2, POGZ, SKIV2L, SLC35C1, TAF1, VPS13B, Xp22, Xq13, disease genes
Author NameAffiliation
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics
Anne O'Donnell-LuriaThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Anne O'Donnell-LuriaBoston Children's Hospital and Harvard Medical School
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics
Anne O'Donnell-LuriaBoston Children's Hospital and Harvard Medical School
Anne O'Donnell-LuriaThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalBoston Children's Hospital and Harvard Medical School
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Zeynep Coban AkdemirBaylor College of Medicine
Hatip AydinZeynep Kamil Maternity and Children's Training and Research Hospital
Alan H BeggsBoston Children's Hospital and Harvard Medical School
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Kaya BilguvarYale School of Medicine
Kaya BilguvarYale Center for Genome Analysis, Yale School of Medicine
Eric BoerwinkleBaylor College of Medicine
Eric BoerwinkleBaylor College of Medicine
Catherine A BrownsteinBoston Children's Hospital and Harvard Medical School
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A BrownsteinBoston Children's Hospital and Harvard Medical School
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Steven BuyskeRutgers University
Steven BuyskeRutgers University
Carol L ClericuzioUniversity of New Mexico Health Sciences Center
Bert B A de VriesRaboud University Medical Centre
Bert B A de VriesDonders Institute for Brain, Raboud University Medical Centre
Eleina EnglandBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics
Casie A GenettiBoston Children's Hospital and Harvard Medical School
Casie A GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Joseph G GleesonHoward Hughes Medical Institute, University of California
Joseph G GleesonRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Ada HamoshJohns Hopkins University School of Medicine
Taila HartleyChildren's Hospital of Eastern Ontario Research Institute
Shalini N JhangianiBaylor College of Medicine
Francesc L??pez-Gir??ldezYale School of Medicine
Francesc L??pez-Gir??ldezYale Center for Genome Analysis, Yale School of Medicine
Tara C MatiseHuman Genetics Institute of New Jersey, Rutgers University
Jukka S MoilanenOulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu
Jennifer E PoseyBaylor College of Medicine
Nara SobreiraJohns Hopkins University School of Medicine
Philip D WitmerJohns Hopkins University School of Medicine
Jinchuan XingHuman Genetics Institute of New Jersey, Rutgers University
Maha S ZakiClinical Genetics Department, National Research Centre
Kym M BoycottChildren's Hospital of Eastern Ontario
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute
Michael J BamshadUniversity of Washington
Michael J BamshadBrotman-Baty Institute for Precision Medicine
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadBrotman-Baty Institute for Precision Medicine
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