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American Journal of Human Genetics|August 1, 1990
Effective testing of gene-disease associationsM Swift, L L Kupper, C L ChaseAmerican Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.American Journal of Human Genetics|June 11, 2013
Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairmentNatalie R Powers, John D Eicher, Falk Butter, et al.American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.American Journal of Human Genetics|June 11, 2013
De novo mutations in the genome organizer CTCF cause intellectual disabilityAnne Gregor, Martin Oti, Evelyn N Kouwenhoven, et al.American Journal of Human Genetics|July 2, 2013
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalingKishan Kumar Chudasama, Jonathon Winnay, Stefan Johansson, et al.American Journal of Human Genetics|July 2, 2013
miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell modelsPei-Hsun Cheng, Chia-Ling Li, Yu-Fan Chang, et al.American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.American Journal of Human Genetics|June 18, 2013
Identifying Darwinian selection acting on different human APOL1 variants among diverse African populationsWen-Ya Ko, Prianka Rajan, Felicia Gomez, et al.American Journal of Human Genetics|November 5, 2013
Inference of the genetic architecture underlying BMI and height with the use of 20,240 sibling pairsGibran Hemani, Jian Yang, Anna Vinkhuyzen, et al.Pageof 980