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

Nature Genetics

Volumn 47, Issue 11, 2015, Pages 1363-1369

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

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^d LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^e EALING HOSPITAL NHS TRUST   (United Kingdom)

^f BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^g GUY S HOSPITAL   (United Kingdom)

^h PRINCESS ANNE HOSPITAL   (United Kingdom)

ⁱ SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^j UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^k UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^l NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^m ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

ⁿ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^o ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^p CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 9; COLLAGEN TYPE 9 ALPHA 3; CYSTATIN B; GENOMIC DNA; HECT DOMAIN CONTAINING E3 UBIQUITIN LIGASE; MATRIX METALLOPROTEINASE 21; PROTEIN ARGININE METHYLTRANSFERASE; PROTEIN ARGININE METHYLTRANSFERASE 7; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; HACE1 PROTEIN, HUMAN; MATRIX METALLOPROTEINASE; MMP21 PROTEIN, HUMAN; PRMT7 PROTEIN, HUMAN; TALPID3 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADULT; ALBRIGHT SYNDROME; ANIMAL CELL; ANIMAL MODEL; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL FEATURE; CLINICAL GENETICS; DEVELOPMENTAL DISORDER; DNA SEQUENCE; DUANE RETRACTION SYNDROME; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NONHUMAN; PRIORITY JOURNAL; PROGENY; PSEUDOHYPOPARATHYROIDISM; RECESSIVE GENE; CLASSIFICATION; CLINICAL TRIAL; EXOME; FAMILY HEALTH; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOTYPE; MULTICENTER STUDY; PEDIGREE; PHENOTYPE; PROCEDURES; UNITED KINGDOM;

CELL CYCLE PROTEINS; DEVELOPMENTAL DISABILITIES; EXOME; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MATRIX METALLOPROTEINASES, SECRETED; PEDIGREE; PHENOTYPE; PROTEIN-ARGININE N-METHYLTRANSFERASES; SEQUENCE ANALYSIS, DNA; UBIQUITIN-PROTEIN LIGASES; UNITED KINGDOM;

EID: 84945319215     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3410     Document Type: Article

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