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Paper Details

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nat Genet
109
2015
autosomal recessive disease, autosomal recessive disease-associated genes, autosomal recessive disorders, candidate gene, developmental disorders, patients, recessive, recessive developmental disorders, recessive disorders
Author NameAffiliation
Morad AnsariMedical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital
Charu DeshpandeGuy's and St Thomas' NHS Foundation Trust, Guy's Hospital
Nikolai KlenaUniversity of Pittsburgh
Dominic J McMullanBirmingham Women's NHS Foundation Trust, Birmingham Women's Hospital
Ganesh J SwaminathanWellcome Trust Sanger Institute
Caroline F WrightWellcome Trust Sanger Institute
Helen V FirthCambridge University Hospitals NHS Foundation Trust
Jeffrey C BarrettWellcome Trust Sanger Institute
Cecilia W LoUniversity of Pittsburgh
Cecilia W LoUniversity of Pittsburgh
David R FitzPatrickMedical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital
Matthew E HurlesWellcome Trust Sanger Institute
Matthew E HurlesWellcome Trust Sanger Institute
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