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American Journal of Human Genetics|August 1, 1988
Consanguineous marriage and reproduction in Beirut, LebanonM KhlatAmerican Journal of Human Genetics|August 14, 2021
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locusLeandro M Colli, Lea Jessop, Timothy A Myers, et al.American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.American Journal of Human Genetics|August 20, 2021
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesisNil Aygün, Angela L Elwell, Dan Liang, et al.American Journal of Human Genetics|December 31, 2004
Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cellsKerrie Nichol Edamura, Michelle R Leonard, Christopher E PearsonAmerican Journal of Human Genetics|January 20, 2005
Association testing in a linked region using large pedigreesRita M Cantor, Gary K Chen, Päivi Pajukanta, et al.American Journal of Human Genetics|January 20, 2005
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndromeDelphine Trochet, Louise M O'Brien, David Gozal, et al.American Journal of Human Genetics|January 20, 2005
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothoraxJodie N Painter, Hanna Tapanainen, Mirja Somer, et al.American Journal of Human Genetics|October 7, 2004
Evidence for sex-specific risk alleles in autism spectrum disorderJennifer L Stone, Barry Merriman, Rita M Cantor, et al.Pageof 979