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American Journal of Human Genetics|January 9, 2008
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemiaChris Wallace, Stephen J Newhouse, Peter Braund, et al.American Journal of Human Genetics|January 9, 2008
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autismDan E Arking, David J Cutler, Camille W Brune, et al.American Journal of Human Genetics|January 9, 2008
Genome-wide analysis indicates more Asian than Melanesian ancestry of PolynesiansManfred Kayser, Oscar Lao, Kathrin Saar, et al.American Journal of Human Genetics|January 9, 2008
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1Catarina M Quinzii, Tuan H Vu, K Christopher Min, et al.American Journal of Human Genetics|January 9, 2008
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndromeShay Ben-Shachar, Zhishuo Ou, Chad A Shaw, et al.American Journal of Human Genetics|January 9, 2008
Nature of mitochondrial DNA deletions in substantia nigra neuronsAmy K Reeve, Kim J Krishnan, Joanna L Elson, et al.American Journal of Human Genetics|June 11, 1991
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patientsE H Mules, C E Dowling, M B Petersen, et al.American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.American Journal of Human Genetics|October 1, 2019
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and MicrocephalyElodie M Richard, Daniel L Polla, Muhammad Zaman Assir, et al.American Journal of Human Genetics|September 1, 1979
An alpha 1-antitrypsin variant, Pi B Alhambra (Lys to Asp, Glu to Asp), with rapid anodal electrophoretic mobilityA Yoshida, R Chillar, J C TaylorPageof 979