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Human Mutation|February 24, 2017
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeEri Imagawa, Ken Higashimoto, Yasunari Sakai, et al.Human Mutation|March 1, 2017
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseIrene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, et al.Human Mutation|January 6, 2017
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks SyndromeBryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, et al.Human Mutation|October 5, 2016
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell SyndromeWalid Abi Habib, Frederic Brioude, Salah Azzi, et al.Human Mutation|January 15, 2017
Crohn disease risk prediction-Best practices and pitfalls with exome dataManuel Giollo, David T Jones, Marco Carraro, et al.Human Mutation|November 19, 2016
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylationLeslie Matalonga, Miren Bravo, Carla Serra-Peinado, et al.Human Mutation|November 19, 2016
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of FormationDaniel Nilsson, Maria Pettersson, Peter Gustavsson, et al.Human Mutation|January 20, 2017
Blind prediction of deleterious amino acid variations with SNPs&GOEmidio Capriotti, Pier Luigi Martelli, Piero Fariselli, et al.Human Mutation|August 26, 2003
Genotyping African haplotypes in ATM using a co-spotted single-base extension assayManeesh Jain, Yvonne R Thorstenson, David M Faulkner, et al.Human Mutation|August 26, 2003
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patientsNitin Udar, Vivek Yellore, Meenal Chalukya, et al.Pageof 583