Article
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Genome biology - 29 Nov 2016
Eggers Stefanie, Sadedin Simon, van den Bergen Jocelyn A, Robevska Gorjana, Ohnesorg Thomas, Hewitt Jacqueline, Lambeth Luke, Bouty Aurore, Knarston Ingrid M, Tan Tiong Yang, Cameron Fergus, Werther George, Hutson John, O'Connell Michele, Grover Sonia R, Heloury Yves, Zacharin Margaret, Bergman Philip, Kimber Chris, Brown Justin, Webb Nathalie, Hunter Matthew F, Srinivasan Shubha, Titmuss Angela, Verge Charles F, Mowat David, Smith Grahame, Smith Janine, Ewans Lisa, Shalhoub Carolyn, Crock Patricia, Cowell Chris, Leong Gary M, Ono Makato, Lafferty Antony R, Huynh Tony, Visser Uma, Choong Catherine S, McKenzie Fiona, Pachter Nicholas, Thompson Elizabeth M, Couper Jennifer, Baxendale Anne, Gecz Jozef, Wheeler Benjamin J, Jefferies Craig, MacKenzie Karen, Hofman Paul, Carter Philippa, King Richard I, Krausz Csilla, van Ravenswaaij-Arts Conny M A, Looijenga Leendert, Drop Sten, Riedl Stefan, Cools Martine, Dawson Angelika, Juniarto Achmad Zulfa, Khadilkar Vaman, Khadilkar Anuradha, Bhatia Vijayalakshmi, Dũng Vũ Chí, Atta Irum, Raza Jamal, Thi Diem Chi Nguyen, Hao Tran Kiem, Harley Vincent, Koopman Peter, Warne Garry, Faradz Sultana, Oshlack Alicia, Ayers Katie L, Sinclair Andrew H
Abstract excerpt
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes...
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