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Human Mutation|February 27, 2016
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial DiseaseLishuang Shen, Maria Angela Diroma, Michael Gonzalez, et al.
Human Mutation|March 19, 2016
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive MedicineAnna Abulí, Montserrat Boada, Benjamín Rodríguez-Santiago, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
Human Mutation|December 30, 2014
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotypeTatehiro Kagawa, Akira Oka, Yoshinao Kobayashi, et al.
Human Mutation|July 31, 2015
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor IsoformsMarije Bartels, Marieke M van der Zalm, Brigitte A van Oirschot, et al.
Human Mutation|October 15, 2014
Identification of splicing defects caused by mutations in the dysferlin geneVirginie Kergourlay, Ghadi Raï, Gaëlle Blandin, et al.
Human Mutation|October 18, 2014
Clinical applications and implications of common and founder mutations in Indian subpopulationsArunkanth Ankala, Parag M Tamhankar, C Alexander Valencia, et al.
Human Mutation|September 9, 2014
Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart diseasePetra Werner, Prasuna Paluru, Anisha M Simpson, et al.
Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
Human Mutation|August 27, 2014
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studiesLuigia De Falco, Laura Silvestri, Caroline Kannengiesser, et al.
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