Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.

Autor: Müller AR; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands., Boot E; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands.; The Dalglish Family 22Q Clinic, Toronto, ON, Canada.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands., Notermans SB; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Schuengel C; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Section of Clinical Child and Family Studies, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Henneman L; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Cornel MC; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van Haelst MM; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Alders M; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Bijl B; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands., Wijburg FA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., van Eeghen AM; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 16; Vol. 19 (1), pp. 346. Date of Electronic Publication: 2024 Sep 16.