Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families-Reference-Cited by-同舟云学术

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Published:2015-10-05 Issue:11 Volume:47 Page:1363-1369
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Akawi Nadia, ,McRae Jeremy,Ansari Morad,Balasubramanian Meena,Blyth Moira,Brady Angela F,Clayton Stephen,Cole Trevor,Deshpande Charu,Fitzgerald Tomas W,Foulds Nicola,Francis Richard,Gabriel George,Gerety Sebastian S,Goodship Judith,Hobson Emma,Jones Wendy D,Joss Shelagh,King Daniel,Klena Nikolai,Kumar Ajith^ORCID,Lees Melissa,Lelliott Chris^ORCID,Lord Jenny,McMullan Dominic,O'Regan Mary,Osio Deborah,Piombo Virginia,Prigmore Elena,Rajan Diana,Rosser Elisabeth,Sifrim Alejandro,Smith Audrey,Swaminathan Ganesh J,Turnpenny Peter,Whitworth James,Wright Caroline F,Firth Helen V,Barrett Jeffrey C^ORCID,Lo Cecilia W,FitzPatrick David R,Hurles Matthew E

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3410.pdf

Reference42 articles.

1. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 519, 223–228 (2015).

2. De Rubeis, S. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209–215 (2014).

3. Wright, C.F. et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 385, 1305–1314 (2015).

4. Najmabadi, H. et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478, 57–63 (2011).

5. Köhler, S. et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 42, D966–D974 (2014).

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