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Human Mutation|January 12, 2005
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotypeIsabelle Perrault, Sylvain Hanein, Sylvie Gerber, et al.Human Mutation|January 12, 2005
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT geneCécile Acquaviva, Jean-François Benoist, Sabrina Pereira, et al.Human Mutation|November 22, 2021
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)Soodabeh Sarafrazi, Sean C Daugherty, Nicole Miller, et al.Human Mutation|November 27, 2021
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndromeBenjamin Billiet, Patrizia Amati-Bonneau, Valérie Desquiret-Dumas, et al.Human Mutation|November 27, 2021
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathyKenshiro Fujise, Mariko Okubo, Tadashi Abe, et al.Human Mutation|December 3, 2021
The enhancer rare germline variation rs548071605 contributes to lung cancer developmentXuchun Wang, He Cheng, Yin Yang, et al.Human Mutation|September 20, 2022
Destabilization of mutated human PUS3 protein causes intellectual disabilityTing-Yu Lin, Robert Smigiel, Bozena Kuzniewska, et al.Human Mutation|September 22, 2022
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humansGuanxiong Wang, Xiaoyu Zhu, Yang Gao, et al.Human Mutation|September 10, 2022
Rapid genome sequencing for pediatricsJana Jezkova, Sophie Shaw, Nicola V Taverner, et al.Human Mutation|September 10, 2022
Long-read sequencing for molecular diagnostics in constitutional genetic disordersLaura K Conlin, Erfan Aref-Eshghi, Deborah A McEldrew, et al.Pageof 582