Aneuploidy

Rare and de novo duplications containing SHOX in clubfoot
Brooke Sadler, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett

Journal of Medical Genetics Dec 2020, 57 (12) 851-857; DOI: 10.1136/jmedgenet-2020-106842
Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
Carolyn Bondy, Vladimir K Bakalov, Clara Cheng, Laura Olivieri, Douglas R Rosing, Andrew E Arai

Journal of Medical Genetics Oct 2013, 50 (10) 662-665; DOI: 10.1136/jmedgenet-2013-101720
Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation
Dagan Wells, Kulvinder Kaur, Jamie Grifo, Michael Glassner, Jenny C Taylor, Elpida Fragouli, Santiago Munne

Journal of Medical Genetics Aug 2014, 51 (8) 553-562; DOI: 10.1136/jmedgenet-2014-102497

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