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Journal of Human Genetics|March 3, 2017
Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probandsTanusree Saha, Mahasweta Chatterjee, Swagata Sinha, et al.Journal of Human Genetics|April 21, 2017
The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndromeMayumi Sugiura-Ogasawara, Yosuke Omae, Minae Kawashima, et al.Journal of Human Genetics|June 4, 2008
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control studyHisako Enomoto, Kenji Hirata, Kenta Otsuka, et al.Journal of Human Genetics|June 17, 2008
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasiaAtsushi Miyake, Gen Nishimura, Toru Futami, et al.Journal of Human Genetics|March 7, 2014
Pseudogenization of testis-specific Lfg5 predates human/Neanderthal divergenceMarco Mariotti, Temple F Smith, Peter H Sudmant, et al.Journal of Human Genetics|April 4, 2019
Author Correction: Testing the key assumption of heritability estimates based on genome-wide genetic relatednessDalton Conley, Mark L Siegal, Benjamin W Domingue, et al.Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.Journal of Human Genetics|July 20, 2019
Identification of a missense variant in CLDN2 in obstructive azoospermiaMasomeh Askari, Razieh Karamzadeh, Naser Ansari-Pour, et al.Journal of Human Genetics|October 23, 2022
Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese familyTai-Cheng Zhou, Xiao Li, Hui Li, et al.Journal of Human Genetics|September 13, 2022
Identity-by-descent analysis of CMTX3 links three families through a common founderLyndal Henden, Bianca R Grosz, Melina Ellis, et al.Pageof 351