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Human Mutation|October 23, 2012
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine diseaseAlfonso Oyarzabal, Mercedes Martínez-Pardo, Begoña Merinero, et al.
Human Mutation|January 22, 2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutationsCatherine L Bladen, David Salgado, Soledad Monges, et al.
Human Mutation|July 2, 2014
Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomasKati Kämpjärvi, Min Ju Park, Miika Mehine, et al.
Human Mutation|February 24, 2015
GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretationMichael M Gottlieb, David J Arenillas, Savanie Maithripala, et al.
Human Mutation|February 24, 2015
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short statureSophie R Wang, Christina M Jacobsen, Heather Carmichael, et al.
Human Mutation|February 17, 2015
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same geneNara Sobreira, François Schiettecatte, Corinne Boehm, et al.
Human Mutation|March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsPatricie Burda, Alexandra Schäfer, Terttu Suormala, et al.
Human Mutation|March 11, 2015
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotypeHeng Meng, Hai-Qing Xu, Lu Yu, et al.
Human Mutation|March 14, 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresiaEllen A Tsai, Christopher M Grochowski, Alexandra M Falsey, et al.
Human Mutation|April 18, 2015
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric PhenotypesAbdul Noor, Lucie Dupuis, Kirti Mittal, et al.
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