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Human Mutation|June 3, 2021
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patientsMohan Rajeshwari, Sellamuthu Karthi, Reetu Singh, et al.Human Mutation|April 14, 2022
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2Silke Peeters, Pauline De Kinderen, Josephina A N Meester, et al.Human Mutation|May 26, 2017
Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contestsPanagiotis Katsonis, Olivier LichtargeHuman Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.Human Mutation|June 13, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variantsMireille Claustres, Corinne Thèze, Marie des Georges, et al.Human Mutation|June 7, 2017
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophilsMartin de Boer, Karin van Leeuwen, Judy Geissler, et al.Human Mutation|September 8, 2016
How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing EraDavid Salgado, Matthew I Bellgard, Jean-Pierre Desvignes, et al.Human Mutation|June 27, 2017
Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variantsMark Livingstone, Lukas Folkman, Yuedong Yang, et al.Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.Human Mutation|February 10, 2022
Machine learning models for accurate prioritization of variants of uncertain significanceDaniel Mahecha, Haydemar Nuñez, Maria C Lattig, et al.Pageof 582