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Journal of Human Genetics|August 2, 2019
Correction to: Investigation of novel variations of ORAI1 gene and their association with Kawasaki diseaseKyaw Thiha, Yoichi Mashimo, Hiroyuki Suzuki, et al.Journal of Human Genetics|August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of IndiaMehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.Journal of Human Genetics|March 14, 2014
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher diseaseKyu Ha Woo, Beom Hee Lee, Sun Hee Heo, et al.Journal of Human Genetics|March 11, 2021
Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEAShiroh Miura, Tomofumi Shimojo, Takuya Morikawa, et al.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.Pageof 353