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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs, Pleuntje J; Alders, Mariëlle; Dingemans, Alexander J M; Parbhoo, Kareesma; van Bon, Bregje W; Dempsey, Jennifer C; Doherty, Dan; den Dunnen, Johan T; Gerkes, Erica H; Milller, Ilana M; Moortgat, Stephanie; Regier, Debra S; Ruivenkamp, Claudia A L; Schmalz, Betsy; Smol, Thomas; Stuurman, Kyra E; Vincent-Delorme, Catherine; de Vries, Bert B A; Sadikovic, Bekim; Hickey, Scott E; Rosenfeld, Jill A; Maystadt, Isabelle; Santen, Gijs W E.
Affiliation
  • van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Parbhoo K; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • van Bon BW; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • den Dunnen JT; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Gerkes EH; Human Genetics and Clinical Genetics, Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands.
  • Milller IM; Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
  • Moortgat S; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.
  • Regier DS; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.
  • Ruivenkamp CAL; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.
  • Schmalz B; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Smol T; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Stuurman KE; EA7364 RADEME, Institut de Génétique Médicale, Université de Lille, CHU de Lille, F-59000 Lille, France.
  • Vincent-Delorme C; Erasmus MC, Department of Clinical Genetics, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.
  • de Vries BBA; EA7364 RADEME, Université de Lille, Clinique de Génétique, CHU de Lille, F-59000 Lille, France.
  • Sadikovic B; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Hickey SE; Verspeeten Clinical Genome Centre and London Health Sciences Centre, Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
  • Rosenfeld JA; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Maystadt I; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.
  • Santen GWE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Genes (Basel) ; 12(8)2021 08 20.
Article in En | MEDLINE | ID: mdl-34440449
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / DNA Methylation / Genetic Predisposition to Disease / DNA-Binding Proteins / Intellectual Disability Type of study: Guideline / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / DNA Methylation / Genetic Predisposition to Disease / DNA-Binding Proteins / Intellectual Disability Type of study: Guideline / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country: