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Human Mutation|April 9, 2017
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrumFrancesca Pantaleoni, Dorit Lev, Ion C Cirstea, et al.Human Mutation|March 24, 2017
Exomic variants of an elderly cohort of Brazilians in the ABraOM databaseMichel Satya Naslavsky, Guilherme Lopes Yamamoto, Tatiana Ferreira de Almeida, et al.Human Mutation|March 29, 2014
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancyJie Li, Lixin Yang, Shikha Gaur, et al.Human Mutation|April 8, 2014
Germline TP53 mutations and the changing landscape of Li-Fraumeni syndromeJunne Kamihara, Huma Q Rana, Judy E GarberHuman Mutation|March 18, 2014
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutationsAlexandre Hinzpeter, Alix de Becdelièvre, Eric Bieth, et al.Human Mutation|March 22, 2014
STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndromeZhiqing Wang, Baoping Wu, Rebecca A Mosig, et al.Human Mutation|January 11, 2017
Predicting Severity of Disease-Causing VariantsAbhishek Niroula, Mauno VihinenHuman Mutation|January 12, 2017
Quantification of Phenotype Information Aids the Identification of Novel Disease GenesAnneke T Vulto-van Silfhout, Christian Gilissen, Jelle J Goeman, et al.Human Mutation|February 24, 2017
Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modelingJonathan Gallion, Amanda Koire, Panagiotis Katsonis, et al.Human Mutation|February 24, 2017
A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stonesMegan E Ure, Emma Heydari, Wanling Pan, et al.Pageof 583