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American Journal of Human Genetics|November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AChanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
American Journal of Human Genetics|November 22, 2016
Colocalization of GWAS and eQTL Signals Detects Target GenesFarhad Hormozdiari, Martijn van de Bunt, Ayellet V Segrè, et al.
American Journal of Human Genetics|October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of ComplementInes Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.
American Journal of Human Genetics|March 11, 2014
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseasesYingleong Chan, Elaine T Lim, Niina Sandholm, et al.
American Journal of Human Genetics|August 1, 1988
Variability in predicted rates of Down syndrome associated with elevated maternal serum alpha-fetoprotein levels in older womenE B Hook
American Journal of Human Genetics|February 27, 2014
Pulling out the 1%: whole-genome capture for the targeted enrichment of ancient DNA sequencing librariesMeredith L Carpenter, Jason D Buenrostro, Cristina Valdiosera, et al.
American Journal of Human Genetics|March 4, 2014
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasiaDominique Hervé, Anne Philippi, Reda Belbouab, et al.
American Journal of Human Genetics|March 4, 2008
Neuropathy target esterase gene mutations cause motor neuron diseaseShirley Rainier, Melanie Bui, Erin Mark, et al.
American Journal of Human Genetics|October 1, 1991
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in PortugalM R dos Santos, A Tanaka, M C sá Miranda, et al.
American Journal of Human Genetics|March 22, 2008
Analysis of genomic admixture in Uyghur and its implication in mapping strategyShuhua Xu, Wei Huang, Ji Qian, et al.
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