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Human Mutation|March 30, 2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremorBryn D Webb, Anthony Evans, Thomas P Naidich, et al.
Human Mutation|August 26, 2020
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20Anna Gaertner, Baerbel Klauke, Elina Felski, et al.
Human Mutation|August 3, 2020
Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypesOri Eyal, Yael Shinar, Mordechai Pras, et al.
Human Mutation|August 3, 2020
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elementsHélène Tubeuf, Camille Charbonnier, Omar Soukarieh, et al.
Human Mutation|April 15, 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorderJudith Halewa, Sylviane Marouillat, Manon Dixneuf, et al.
Human Mutation|July 17, 2008
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individualsDoron M Behar, Jason Blue-Smith, David F Soria-Hernanz, et al.
Human Mutation|September 15, 2007
A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancerZhongning Lin, Xuemei Zhang, Jingsheng Tuo, et al.
Human Mutation|September 15, 2007
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patientsFanyi Zeng, Zhao-Rui Ren, Shang-Zhi Huang, et al.
Human Mutation|September 8, 2007
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)Abigail B Gradinger, Caroline Bélair, Lisa C Worgan, et al.
Human Mutation|September 8, 2007
Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patientsNicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu, et al.
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