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Human Mutation|June 20, 2003
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307SRoser Urreizti, Susana Balcells, Marga Rodés, et al.
Human Mutation|June 20, 2003
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL geneM Spentchian, Y Merrien, M Herasse, et al.
Human Mutation|November 24, 2021
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndromeZhiqiang Zhang, Qi Guo, Lei Jia, et al.
Human Mutation|November 24, 2021
GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patientsSuvoshree Ghosh, Katrin Kraus, Arijit Biswas, et al.
Human Mutation|December 3, 2021
Variant interpretation using population databases: Lessons from gnomADSanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
Human Mutation|November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward SyndromeRabia Faridi, Risa Tona, Alessandra Brofferio, et al.
Human Mutation|April 5, 2019
PMS2 expression decrease causes severe problems in mismatch repairMariann Kasela, Minna Nyström, Minttu Kansikas
Human Mutation|March 30, 2019
TP63-truncating variants cause isolated premature ovarian insufficiencyElena J Tucker, Sylvie Jaillard, Sonia R Grover, et al.
Human Mutation|August 29, 2019
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, et al.
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