Concepedia

Ddd Study

DS

Statistics

Publications

4

Citations

239

H-Index

4

Active since

2015

Affiliations

Wellcome Sanger Institute(Current)

University of Bristol

Wessex Regional Genetics Laboratory

Birmingham Women’s and Children’s NHS Foundation Trust

Ddd Study is an author at Wellcome Sanger Institute specializing in genetics, human genetics, and genetic syndromes.

Publications per year

2015–2018

4

Publications

4

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 100 citations · Full text

, , +17

<i>WAC</i> loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

C.L. DeSanto, Kristin D׳Aco, Gabriel C. Araujo et al. · Journal of Medical Genetics · 2015 · 57 citations

, , +17

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Ddd Study, Fabiola Ceroni, Domingo Aguilera‐Garcia et al. · Human Genetics · 2018 · 57 citations · Full text

, , +14

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

Karen Stals, Richard Caswell, Matthew N. Wakeling et al. · European Journal of Human Genetics · 2018 · 25 citations · Full text

, , +17

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