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American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.American Journal of Human Genetics|May 1, 1989
Prolidase deficiency: biochemical classification of allelesA P Boright, C R Scriver, G A Lancaster, et al.American Journal of Human Genetics|May 1, 1989
An extended long-range restriction map of the human sex-determining region on Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in an XX maleV Verga, R P EricksonAmerican Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.American Journal of Human Genetics|March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft PalateElisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.American Journal of Human Genetics|April 19, 2016
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis VariantJun Li, Susan L Woods, Sue Healey, et al.American Journal of Human Genetics|April 19, 2016
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control StudiesCorneliu A Bodea, Benjamin M Neale, Stephan Ripke, et al.American Journal of Human Genetics|April 19, 2016
Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate TumorsBrennan Decker, Danielle M Karyadi, Brian W Davis, et al.American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.Pageof 979