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American Journal of Human Genetics|September 12, 2007
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetranceJacqueline Milet, Valerie Dehais, Catherine Bourgain, et al.American Journal of Human Genetics|September 12, 2007
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaSimon Edvardson, Avraham Shaag, Olga Kolesnikova, et al.American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.American Journal of Human Genetics|November 1, 1989
The human chromogranin A gene: chromosome assignment and RFLP analysisW S Modi, M A Levine, H N Seuanez, et al.American Journal of Human Genetics|December 1, 1989
Absence of a single repeat from the coding region of the human involucrin gene leading to RFLPM Simon, M Phillips, H Green, et al.American Journal of Human Genetics|December 1, 1989
Population genetics of the highly polymorphic locus D16S7 and its use in paternity evaluationJ A Chimera, C R Harris, M LittAmerican Journal of Human Genetics|July 1, 1988
Auditory brain-stem responses in the fragile X syndromeT Arinami, M Sato, S Nakajima, et al.American Journal of Human Genetics|August 7, 2020
Interpretable Clinical Genomics with a Likelihood Ratio ParadigmPeter N Robinson, Vida Ravanmehr, Julius O B Jacobsen, et al.American Journal of Human Genetics|August 8, 2020
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with PhenotypeMichael S Breen, Paras Garg, Lara Tang, et al.American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.Pageof 979