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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Casey, Jillian P Magalhaes, Tiago Conroy, Judith M Regan, Regina Shah, Naisha Anney, Richard Shields, Denis C Abrahams, Brett S Almeida, Joana Bacchelli, Elena ...

Published in Human genetics

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritabil...

Sequence variant in the laminin γ1 (LAMC1) gene associated with familial pelvic organ prolapse

Nikolova, Ganka Lee, Hane Berkovitz, Suzanne Nelson, Stanley Sinsheimer, Janet Vilain, Eric Rodríguez, Larissa V.

Published in Human Genetics

Pelvic organ prolapse is a common condition, affecting up to a third of women throughout their lifetime. Genetic factors are believed to account for about 30% of the incidence, and are the least understood component of the disorder. Familial cases, particularly those in which prolapse manifests in young women, are especially valuable in the effort ...

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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Sequence variant in the laminin γ1 (LAMC1) gene associated with familial pelvic organ prolapse