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Human Mutation|March 7, 2013
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropeniaManuela Germeshausen, Sabine Deerberg, Yvonne Peter, et al.Human Mutation|June 26, 2013
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesiaM Leigh Anne Daniels, Margaret W Leigh, Stephanie D Davis, et al.Human Mutation|April 26, 2013
High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Liyong Wang, Karen Nuytemans, Guney Bademci, et al.Human Mutation|April 26, 2013
Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expressionKaren M Lower, Marco De Gobbi, Jim R Hughes, et al.Human Mutation|April 17, 2012
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemiaFlorin Sasarman, Tamiko Nishimura, Isabelle Thiffault, et al.Human Mutation|April 17, 2012
PON-P: integrated predictor for pathogenicity of missense variantsAyodeji Olatubosun, Jouni Väliaho, Jani Härkönen, et al.Human Mutation|May 15, 2012
Paralogous annotation of disease-causing variants in long QT syndrome genesJames S Ware, Roddy Walsh, Fiona Cunningham, et al.Human Mutation|May 15, 2012
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patientsJukka Kantelinen, Minttu Kansikas, Satu Candelin, et al.Human Mutation|December 5, 2013
Germline mutations of inhibins in early-onset ovarian epithelial tumorsIsabelle Tournier, Régine Marlin, Kelly Walton, et al.Human Mutation|December 6, 2013
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentChiara Fiorillo, Francesca Moro, Julie Yi, et al.Pageof 583