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Human Mutation|September 10, 2011
DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear familiesIan M Carr, Colin A Johnson, Alex F Markham, et al.Human Mutation|September 9, 2011
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeJillian Casey, Riki Kawaguchi, Maria Morrissey, et al.Human Mutation|February 16, 2012
The androgen receptor gene mutations database: 2012 updateBruce Gottlieb, Lenore K Beitel, Abbesha Nadarajah, et al.Human Mutation|October 13, 2011
Menstrual cycle-dependent febrile episode mediated by sequence-specific repression of poly(ADP-ribose) polymerase-1 on the transcription of the human serotonin receptor 1A geneYu-Chen Jiang, Hung-Ming Wu, Kai-Hsin Cheng, et al.Human Mutation|October 13, 2011
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3Brandon Itzkovitz, Sarn Jiralerspong, Graeme Nimmo, et al.Human Mutation|April 5, 2012
A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2Kevin Cheeseman, Etienne Rouleau, Anne Vannier, et al.Human Mutation|April 11, 2012
Genome-wide arrays in routine diagnostics of hematological malignanciesAnnet Simons, Birgit Sikkema-Raddatz, Nicole de Leeuw, et al.Human Mutation|March 21, 2012
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposisIsabel Spier, Sukanya Horpaopan, Stefanie Vogt, et al.Human Mutation|March 21, 2012
Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnosticsOlga Jarinova, Marc EkkerHuman Mutation|March 31, 2012
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutationsAdriana Goncalves, Evren Karayel, Gillian I Rice, et al.Pageof 583