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American Journal of Human Genetics|January 1, 1986
Abnormal arrangements in the alpha- and gamma-globin gene clusters in a relatively large group of Japanese newbornsK Shimizu, T Harano, K Harano, et al.American Journal of Human Genetics|September 10, 2013
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Hung-Chun Yu, Jennifer L Sloan, Gunter Scharer, et al.American Journal of Human Genetics|March 1, 1986
Preferential somatic pairing between homologous heterochromatic regions of human chromosomesT Haaf, K Steinlein, M SchmidAmerican Journal of Human Genetics|November 12, 2013
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosisAkiharu Kubo, Aiko Shiohama, Takashi Sasaki, et al.American Journal of Human Genetics|November 12, 2013
Gain-of-function mutations in SCN11A cause familial episodic painXiang Yang Zhang, Jingmin Wen, Wei Yang, et al.American Journal of Human Genetics|November 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeArvid Suls, Johanna A Jaehn, Angela Kecskés, et al.American Journal of Human Genetics|August 6, 2013
RFMix: a discriminative modeling approach for rapid and robust local-ancestry inferenceBrian K Maples, Simon Gravel, Eimear E Kenny, et al.American Journal of Human Genetics|October 1, 2013
Cole Disease Results from Mutations in ENPP1Ori Eytan, Fanny Morice-Picard, Ofer Sarig, et al.American Journal of Human Genetics|October 1, 2013
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delayMoeenaldeen D Al-Sayed, Hamad Al-Zaidan, Albandary Albakheet, et al.American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.Pageof 980