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Human Mutation|November 12, 2017
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and functionVincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, et al.
Human Mutation|December 8, 2017
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practiceGillian Ellison, Miika Ahdesmäki, Sally Luke, et al.
Human Mutation|November 15, 2017
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant proteinGiulia Signorino, Sonia Covaceuszach, Manuela Bozzi, et al.
Human Mutation|December 2, 2017
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B functionLuis Vazquez Fonseca, Mara Doimo, Cristina Calderan, et al.
Human Mutation|November 4, 2017
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their familiesDanielle C Kimble, Francis P Lach, Siobhan Q Gregg, et al.
Human Mutation|September 10, 2017
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanismXiao-Long Zhou, Long-Xia He, Li-Jia Yu, et al.
Human Mutation|October 17, 2017
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variantsLeandro Simonetti, Carlos D Bruque, Cecilia S Fernández, et al.
Human Mutation|September 26, 2017
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 geneThéa Venet, Emmanuelle Masson, Cécile Talbotec, et al.
Human Mutation|September 24, 2017
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotypeLi Chen, Philip J Jensik, Joseph T Alaimo, et al.
Human Mutation|September 2, 2017
Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identificationMorten Hillmer, Anna Summerer, Victor-Felix Mautner, et al.
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