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American Journal of Human Genetics|August 14, 2025
Estimation of demography and mutation rates from one million haploid genomesJoshua G Schraiber, Jeffrey P Spence, Michael D Edge
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
American Journal of Human Genetics|September 19, 2025
Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndromeLylia Mekzine, Natalia Pinzón, Kamel Mamchaoui, et al.
American Journal of Human Genetics|August 19, 2025
When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutionsScott T Pew, Madison B Wiffler, Alun Thomas, et al.
American Journal of Human Genetics|September 12, 2025
MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage dataValeriia Timonina, Astrid Marchal, Laurent Abel, et al.
American Journal of Human Genetics|October 14, 2025
A scalable framework for identifying allelic series from summary statisticsZachary R McCaw, Jianhui Gao, Rounak Dey, et al.
American Journal of Human Genetics|July 29, 2025
Sparse matrix factorization robust to sample sharing across GWASs reveals interpretable genetic componentsAshton R Omdahl, Joshua S Weinstock, Rebecca Keener, et al.
American Journal of Human Genetics|August 5, 2014
Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypesYukinori Okada, Buhm Han, Lam C Tsoi, et al.
American Journal of Human Genetics|August 5, 2014
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental resultsHolly K Tabor, Paul L Auer, Seema M Jamal, et al.
American Journal of Human Genetics|December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidDavid A Parry, Clare V Logan, Alexander P A Stegmann, et al.
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