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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment, David A; O'Donnell-Luria, Anne; Agrawal, Pankaj B; Coban Akdemir, Zeynep; Aleck, Kyrieckos A; Antaki, Danny; Al Sharhan, Hind; Au, Ping-Yee B; Aydin, Hatip; Beggs, Alan H; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A; Buyske, Steve; Chodirker, Bernard; Choi, Jungmin; Chudley, Albert E; Clericuzio, Carol L; Cox, Gerald F; Curry, Cynthia; de Boer, Elke; de Vries, Bert B A; Dunn, Kathryn; Dutmer, Cullen M; England, Eleina M; Fahrner, Jill A; Geckinli, Bilgen B; Genetti, Casie A; Gezdirici, Alper; Gibson, William T; Gleeson, Joseph G; Greenberg, Cheryl R; Hall, April; Hamosh, Ada; Hartley, Taila; Jhangiani, Shalini N; Karaca, Ender; Kernohan, Kristin; Lauzon, Julie L; Lewis, M E Suzanne; Lowry, R Brian; López-Giráldez, Francesc; Matise, Tara C; McEvoy-Venneri, Jennifer; McInnes, Brenda; Mhanni, Aziz; Garcia Minaur, Sixto; Moilanen, Jukka; Nguyen, An.
Affiliation
  • Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • O'Donnell-Luria A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Agrawal PB; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
  • Coban Akdemir Z; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Aleck KA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Antaki D; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Al Sharhan H; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Au PB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Aydin H; Department of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, Arizona, USA.
  • Beggs AH; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.
  • Bilguvar K; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Boerwinkle E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Brand H; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
  • Brownstein CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
  • Buyske S; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
  • Chodirker B; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Choi J; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Chudley AE; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
  • Clericuzio CL; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.
  • Cox GF; Human Genome Sequencing Center, Baylor College of Medicine, Waco, Texas, USA.
  • Curry C; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
  • de Boer E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • de Vries BBA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Dunn K; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Dutmer CM; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • England EM; Department of Statistics and Biostatistics, Rutgers University, Piscataway, New Jersey, USA.
  • Fahrner JA; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Geckinli BB; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
  • Genetti CA; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, South Korea.
  • Gezdirici A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Gibson WT; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
  • Gleeson JG; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Greenberg CR; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Hall A; University of California, San Francisco, California, USA.
  • Hamosh A; Genetic Medicine, University Pediatric Specialists, Fresno, California, USA.
  • Hartley T; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.
  • Jhangiani SN; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.
  • Karaca E; Donders Institute for Brain, Cognition and Behaviour, Raboud University Medical Centre, Nijmegen, Netherlands.
  • Kernohan K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Lauzon JL; Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Lewis MES; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
  • Lowry RB; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • López-Giráldez F; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.
  • Matise TC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • McEvoy-Venneri J; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • McInnes B; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Mhanni A; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
  • Garcia Minaur S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.
  • Moilanen J; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Nguyen A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Am J Med Genet A ; 185(1): 119-133, 2021 01.
Article in En | MEDLINE | ID: mdl-33098347
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Full text: 1 Database: MEDLINE Main subject: Repressor Proteins / Genetic Predisposition to Disease / Eczema / Growth Disorders / Histone Deacetylases / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Canada
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Repressor Proteins / Genetic Predisposition to Disease / Eczema / Growth Disorders / Histone Deacetylases / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Canada