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Human Mutation|September 9, 2011
Competitive amplification of differentially melting amplicons (CADMA) enables sensitive and direct detection of all mutation types by high-resolution melting analysisLasse S Kristensen, Gitte B Andersen, Henrik Hager, et al.Human Mutation|September 8, 2011
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertensionMd Talat Nasim, Takeshi Ogo, Mohammad Ahmed, et al.Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.Human Mutation|July 29, 2011
A mutation in SCARB2 is a modifier in Gaucher diseaseArash Velayati, John DePaolo, Nidhi Gupta, et al.Human Mutation|July 29, 2011
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment schemeSarah Berwouts, Michael A Morris, Emmanuelle Girodon, et al.Human Mutation|September 10, 2011
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferaseGabriella Esposito, Francesca De Falco, Nadia Tinto, et al.Human Mutation|January 26, 2012
SEPT12 mutations cause male infertility with defective sperm annulusYung-Che Kuo, Ying-Hung Lin, Hau-Inh Chen, et al.Human Mutation|February 15, 2012
MouseFinder: Candidate disease genes from mouse phenotype dataChao-Kung Chen, Christopher J Mungall, Georgios V Gkoutos, et al.Human Mutation|February 2, 2012
Detecting false-positive signals in exome sequencingKarin V Fuentes Fajardo, David Adams, , et al.Human Mutation|February 1, 2012
Assessing the enrichment performance in targeted resequencing experimentsPeter Frommolt, Ali T Abdallah, Janine Altmüller, et al.Pageof 583