Discovery of four recessive developmental disorders using probabilistic genotype and phenotype match...
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
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Author / Creator
DDD study , the DDD study , 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 , Lees, Melissa , Lelliott, Chris , 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 , Lo, Cecilia W , FitzPatrick, David R and Hurles, Matthew E
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Matthew Hurles, David FitzPatrick and colleagues report the discovery of four novel Mendelian disorders based on their analysis of exome sequence data from 4,125 families with diverse rare developmental disorders. They present their analytical pipeline as a general strategy for the discovery of genetic causes of autosomal recessive disorders.
Di...
Alternative Titles
Full title
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Authors, Artists and Contributors
Author / Creator
the DDD study
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
Lees, Melissa
Lelliott, Chris
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
Lo, Cecilia W
FitzPatrick, David R
Hurles, Matthew E
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5988033
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5988033
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3410
