Genetic (re-)evaluation to optimize the care of adults with intellectual disability-Reference-Cited by-同舟云学术

Genetic (re-)evaluation to optimize the care of adults with intellectual disability

Published:2022-12-27 Issue: Volume: Page:
ISSN:1866-0452
Container-title:Deutsches Ärzteblatt international
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Author:

Knopp Cordula,Steiner Robin,Lausberg Eva,von Hoegen Caroline,Busse Sabine,Meyer Robert,Eggermann Katja,Schüler Herdit,Begemann Matthias,Eggermann Thomas,Kurth Ingo,Schulz Jörg B.,Elbracht Miriam,Maier Andrea

Publisher

Deutscher Arzte-Verlag GmbH

Subject

General Medicine

Reference5 articles.

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2. Srivastava S, Love-Nichols JA, Dies KA, et al.: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 2019; 21: 2413–21.

3. Mahler EA, Johannsen J, Tsiakas K, et al.: Exome sequencing in children. Dtsch Arztebl Int 2019; 116: 197–204.

4. Walsh M, West K, Taylor JA, et al.: Real world outcomes and implementation pathways of exome sequencing in an adult genetic department. Genet Med 2022; 24: 1536–44.

5. Richards S, Aziz N, Bale S, et al.: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–23.

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1. Adult syndromology: challenges, opportunities and perspectives;Medizinische Genetik;2024-06-05

2. Implementation of human genetic counseling in the MZEB (Medical Center for Adults with disabilities) at the psychiatric LVR Clinic Bedburg-Hau;Medizinische Genetik;2024-06-05