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Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
Human Mutation|March 26, 2014
TP53 mutations in human cancer: database reassessment and prospects for the next decadeBernard Leroy, Martha Anderson, Thierry Soussi
Human Mutation|December 31, 2016
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey DiseaseRuud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, et al.
Human Mutation|January 4, 2017
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio SequencingHenk P J Buermans, Rolf H A M Vossen, Seyed Yahya Anvar, et al.
Human Mutation|February 3, 2017
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARXTessa Mattiske, Ching Moey, Lisenka E Vissers, et al.
Human Mutation|January 12, 2017
Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic AneurysmsKak K Yeung, Natalija Bogunovic, Niels Keekstra, et al.
Human Mutation|December 19, 2007
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutationSara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, et al.
Human Mutation|December 7, 2007
CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining toolRebecca E Saunders, Stephen J Perkins
Human Mutation|December 14, 2007
Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometryHerbert Oberacher, Florian Pitterl, Gabriela Huber, et al.
Human Mutation|April 19, 2006
Double-strand DNA break repair with replication slippage on two strands: a novel mechanism of deletion formationHelen E MacLean, Jenny M Favaloro, Garry L Warne, et al.
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