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Human Mutation|July 29, 2010
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexKen Natsuga, Wataru Nishie, Satoru Shinkuma, et al.
Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
Human Mutation|October 2, 2009
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variantLili Li, Kajal Biswas, Laura Anne Habib, et al.
Human Mutation|June 12, 2014
Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapySampath K Loganathan, Joseph R Casey
Human Mutation|September 28, 2011
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsPaweł Stankiewicz, Shashikant Kulkarni, Avinash V Dharmadhikari, et al.
Human Mutation|September 2, 2011
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutationsJohn W Yarham, Mazhor Al-Dosary, Emma L Blakely, et al.
Human Mutation|September 2, 2011
Extending the phenotypes associated with DICER1 mutationsWilliam D Foulkes, Amin Bahubeshi, Nancy Hamel, et al.
Human Mutation|September 9, 2011
Estimating the degree of identity by descent in consanguineous couplesIan M Carr, Sir Alexander F Markham, Sérgio D J Pena
Human Mutation|September 9, 2011
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese populationMin Pan, Peikuan Cong, Yue Wang, et al.
Human Mutation|February 1, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat Sincan, Dimitre R Simeonov, David Adams, et al.
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