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American Journal of Human Genetics|September 28, 2010
Inference of unexpected genetic relatedness among individuals in HapMap Phase IIITrevor J Pemberton, Chaolong Wang, Jun Z Li, et al.American Journal of Human Genetics|August 11, 2010
Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomesMingkun Li, Anna Schönberg, Michael Schaefer, et al.American Journal of Human Genetics|August 14, 2010
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, et al.American Journal of Human Genetics|October 6, 2010
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophyOrly Agamy, Bruria Ben Zeev, Dorit Lev, et al.American Journal of Human Genetics|October 5, 2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, et al.American Journal of Human Genetics|August 10, 2010
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problemsStephen R Williams, Micheala A Aldred, Vazken M Der Kaloustian, et al.American Journal of Human Genetics|February 12, 2011
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathyDaniel M Jordan, Adam Kiezun, Samantha M Baxter, et al.American Journal of Human Genetics|February 12, 2011
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic diseaseHolger Cario, Desirée E C Smith, Henk Blom, et al.American Journal of Human Genetics|November 25, 2010
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutationMiora Feinstein, Barak Markus, Iris Noyman, et al.American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.Pageof 981