Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist-Reference-Cited by-同舟云学术

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist

Published:2021-11 Issue: Volume:35 Page:27-34
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Mancini Grazia M.S.,Smits Daphne J.,Dekker Jordy^ORCID,Schot Rachel^ORCID,de Wit Marie Claire Y.,Lequin Maarten H.^ORCID,Dremmen Marjolein,Brooks Alice S.,van Ham Tjakko^ORCID,Verheijen Frans W.,Fornerod Maarten,Dobyns William B.^ORCID,Wilke Martina

Funder

European Cooperation in Science and Technology

ZonMw

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference63 articles.

1. Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification;de Wit;Arch. Neurol.,2008

2. Atypical cerebral palsy: genomics analysis enables precision medicine;Matthews;Genet. Med.,2019

3. A developmental and genetic classification for malformations of cortical development: update 2012;Barkovich;Brain,2012

4. Malformations of cortical development;Desikan;Ann. Neurol.,2016

5. Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant;Di Donato;Am. J. Hum. Genet.,2016

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