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Human Mutation|March 30, 2012
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained deathJohn R Giudicessi, Dan Ye, Chad J Kritzberger, et al.
Human Mutation|February 23, 2012
Ribo-polymerase chain reaction--a facile method for the preparation of chimeric RNA/DNA applied to DNA sequencingFlorence Mauger, Keith Bauer, Jérémy Semhoun, et al.
Human Mutation|May 22, 2012
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1Barak Markus, Ginat Narkis, Daniella Landau, et al.
Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.
Human Mutation|April 28, 2012
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrixRamona Haji-Seyed-Javadi, Sahar Jelodari-Mamaghani, Seyed Hassan Paylakhi, et al.
Human Mutation|April 3, 2016
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural ConsiderationsEnea Sancho-Vaello, Clara Marco-Marín, Nadine Gougeard, et al.
Human Mutation|May 27, 2016
A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene DiscoveryMadison R Chandler, Erin P Bilgili, Nancy D Merner
Human Mutation|June 10, 2016
The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal VariantsRobert Saul, Michael W Lutz, Daniel K Burns, et al.
Human Mutation|August 11, 2017
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patientsAnja K Mayer, Caroline Van Cauwenbergh, Christine Rother, et al.
Human Mutation|September 24, 2017
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplexKen Natsuga, Wataru Nishie, Machiko Nishimura, et al.
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