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Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.HGG Advances|August 29, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variabilityRuizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, et al.Nature Genetics|June 26, 2012
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CAMarjorie J Lindhurst, Victoria E R Parker, Felicity Payne, et al.Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.HGG Advances|May 1, 2023
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.Pageof 18