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Human Mutation|December 8, 2016
Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction FormationXiaoli Chen, Yu An, Yonghui Gao, et al.
Human Mutation|March 5, 2019
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophiesValeria Kheir, Vianney Cortés-González, Juan C Zenteno, et al.
Human Mutation|March 7, 2019
UniProt genomic mapping for deciphering functional effects of missense variantsPeter B McGarvey, Andrew Nightingale, Jie Luo, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Human Mutation|March 1, 2019
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severityMariana R Meireles, Marcelo A S Bragatte, Eliane Bandinelli, et al.
Human Mutation|February 26, 2017
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateSarah Issa, Nadege Bondurand, Emmanuelle Faubert, et al.
Human Mutation|March 2, 2017
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thriveFabian Baertling, Fathiya Al-Murshedi, Laura Sánchez-Caballero, et al.
Human Mutation|February 22, 2017
Predicting gene expression in massively parallel reporter assays: A comparative studyAnat Kreimer, Haoyang Zeng, Matthew D Edwards, et al.
Human Mutation|March 10, 2019
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae systemAngeliki Delimitsou, Florentia Fostira, Despoina Kalfakakou, et al.
Human Mutation|March 15, 2019
Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variantsPauline Romanet, Marie-Françoise Odou, Marie-Odile North, et al.
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