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Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
Knapp, Karen M; Sullivan, Rosie; Murray, Jennie; Gimenez, Gregory; Arn, Pamela; D'Souza, Precilla; Gezdirici, Alper; Wilson, William G; Jackson, Andrew P; Ferreira, Carlos; Bicknell, Louise S.
Affiliation
  • Knapp KM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Sullivan R; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Murray J; MRC HGU, Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK.
  • Gimenez G; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Arn P; Nemours Children's Clinic, Jacksonville, Florida, USA.
  • D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Wilson WG; Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
  • Jackson AP; MRC HGU, Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK.
  • Ferreira C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Bicknell LS; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand louise.bicknell@otago.ac.nz.
J Med Genet ; 57(3): 195-202, 2020 03.
Article in En | MEDLINE | ID: mdl-31784481
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Patella / Nuclear Proteins / Cell Cycle Proteins / Genetic Predisposition to Disease / Congenital Microtia / Growth Disorders / Micrognathism Type of study: Prognostic_studies Limits: Adult / Child / Female / Humans / Male / Pregnancy Language: En Journal: J Med Genet Year: 2020 Document type: Article Affiliation country: New Zealand Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Patella / Nuclear Proteins / Cell Cycle Proteins / Genetic Predisposition to Disease / Congenital Microtia / Growth Disorders / Micrognathism Type of study: Prognostic_studies Limits: Adult / Child / Female / Humans / Male / Pregnancy Language: En Journal: J Med Genet Year: 2020 Document type: Article Affiliation country: New Zealand Country of publication: United kingdom