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Human Mutation|July 4, 2012
Oncogenic potential is related to activating effect of cancer single and double somatic mutations in receptor tyrosine kinasesKosuke Hashimoto, Igor B Rogozin, Anna R Panchenko
Human Mutation|July 4, 2012
Human Variome Project country nodes: documenting genetic information within a countryGeorge P Patrinos, Timothy D Smith, Heather Howard, et al.
Human Mutation|June 21, 2012
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsPhilippe M Campeau, James T Lu, Brian C Dawson, et al.
Human Mutation|September 1, 2012
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwideAlberto García-Redondo, Oriol Dols-Icardo, Ricard Rojas-García, et al.
Human Mutation|October 24, 2012
Autozygosity mapping with exome sequence dataIan M Carr, Sanjeev Bhaskar, James O'Sullivan, et al.
Human Mutation|October 4, 2012
Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCPBeatrice Schuster, Kerstin Knies, Chantal Stoepker, et al.
Human Mutation|October 4, 2012
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndromeJosé-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A Sommers, et al.
Human Mutation|October 23, 2012
Mechanisms of formation of structural variation in a fully sequenced human genomeAndy Wing Chun Pang, Ohsuke Migita, Jeffrey R Macdonald, et al.
Human Mutation|August 7, 2012
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfismAnas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, et al.
Human Mutation|August 24, 2012
Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnosticsPhilip A Chambers, Lucy F Stead, Joanne E Morgan, et al.
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