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European Journal of Human Genetics : EJHG|January 14, 2016
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing ProjectMengyuan Kan, Paul L Auer, Gao T Wang, et al.Genome Research|April 29, 2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersHeather Fairfield, Anuj Srivastava, Guruprasad Ananda, et al.Nature Genetics|June 30, 2015
Rare A2ML1 variants confer susceptibility to otitis mediaRegie Lyn P Santos-Cortez, Charlotte M Chiong, Ma Rina T Reyes-Quintos, et al.American Journal of Human Genetics|March 6, 2008
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy projectAnne W Higgins, Fowzan S Alkuraya, Amy F Bosco, et al.American Journal of Medical Genetics. Part A|June 15, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeMark C Hannibal, Kati J Buckingham, Sarah B Ng, et al.Nature|November 15, 2023
Single-cell, whole-embryo phenotyping of mammalian developmental disordersXingfan Huang, Jana Henck, Chengxiang Qiu, et al.Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.American Journal of Human Genetics|July 28, 2023
Population screening shows risk of inherited cancer and familial hypercholesterolemia in OregonTimothy D O'Brien, Amiee B Potter, Catherine C Driscoll, et al.American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.Pageof 43