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Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Forwood, Caitlin; Ashton, Katie; Zhu, Ying; Zhang, Futao; Dias, Kerith-Rae; Standen, Krystle; Evans, Carey-Anne; Carey, Louise; Cardamone, Michael; Shalhoub, Carolyn; Katf, Hala; Riveros, Carlos; Hsieh, Tzung-Chien; Krawitz, Peter; Robinson, Peter N; Dudding-Byth, Tracy; Sadikovic, Bekim; Pinner, Jason; Buckley, Michael F; Roscioli, Tony.
Affiliation
  • Forwood C; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.
  • Ashton K; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.
  • Zhu Y; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.
  • Zhang F; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.
  • Dias KR; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.
  • Standen K; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.
  • Evans CA; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.
  • Carey L; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.
  • Cardamone M; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.
  • Shalhoub C; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.
  • Katf H; Sydney Children's Hospital, Randwick, Australia.
  • Riveros C; School of Women's and Children's Health, UNSW, Sydney, Australia.
  • Hsieh TC; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.
  • Krawitz P; Sydney Children's Hospital, Randwick, Australia.
  • Robinson PN; Bioinformatics, Hunter Medical Research Institute, Newcastle, Australia.
  • Dudding-Byth T; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
  • Sadikovic B; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
  • Pinner J; JAX Center for Precision Genetics, The JAX Cancer Center, Farmington, Connecticut, USA.
  • Buckley MF; Genetics of Learning Disability (GoLD) Service, Waratah, Australia.
  • Roscioli T; London Health Sciences Centre, Verspeeten Clinical Genome Centre, Western University, London, Canada.
Am J Med Genet C Semin Med Genet ; 193(3): e32056, 2023 09.
Article de En | MEDLINE | ID: mdl-37654076
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Malformations multiples / Anomalies morphologiques congénitales de la main / Déficience intellectuelle / Micrognathisme Type d'étude: Diagnostic_studies Limites: Humans / Male Langue: En Journal: Am J Med Genet C Semin Med Genet Sujet du journal: GENETICA MEDICA Année: 2023 Type de document: Article Pays d'affiliation: Australie
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Malformations multiples / Anomalies morphologiques congénitales de la main / Déficience intellectuelle / Micrognathisme Type d'étude: Diagnostic_studies Limites: Humans / Male Langue: En Journal: Am J Med Genet C Semin Med Genet Sujet du journal: GENETICA MEDICA Année: 2023 Type de document: Article Pays d'affiliation: Australie