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Human Mutation|February 27, 2010
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination eventChristina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, et al.
Human Mutation|July 31, 2018
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16Burcu Turkgenc, Burcin Sanlidag, Amber Eker, et al.
Human Mutation|August 2, 2018
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancerRajini Sreenivasan, Louisa Ludbrook, Brett Fisher, et al.
Human Mutation|June 15, 2018
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposisPilar Mur, Ann-Sofie Jemth, Luka Bevc, et al.
Human Mutation|July 25, 2018
Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencingLi Dong, Nan Wu, Shaojing Wang, et al.
Human Mutation|May 26, 2017
RettBASE: Rett syndrome database updateRahul Krishnaraj, Gladys Ho, John Christodoulou
Human Mutation|May 26, 2017
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challengesYizhou Yin, Kunal Kundu, Lipika R Pal, et al.
Human Mutation|September 10, 2016
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesMaki Igarashi, Kei Takasawa, Akiko Hakoda, et al.
Human Mutation|May 17, 2017
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challengesVikas Pejaver, Sean D Mooney, Predrag Radivojac
Human Mutation|September 27, 2016
Investigating the Molecular Mechanisms Behind Uncharacterized Cysteine Losses from Prediction of Their Oxidation StateDaniele Raimondi, Gabriele Orlando, Joris Messens, et al.
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