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Molecular Genetics & Genomic Medicine|August 1, 2014
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair proteinMev Dominguez-Valentin, Mark Drost, Christina Therkildsen, et al.
Molecular Genetics & Genomic Medicine|September 17, 2013
Twin Mitochondrial Sequence AnalysisYosr Bouhlal, Selena Martinez, Henry Gong, et al.
Molecular Genetics & Genomic Medicine|January 8, 2016
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technologyElena Nicchia, Chiara Greco, Daniela De Rocco, et al.
Molecular Genetics & Genomic Medicine|January 8, 2016
126 novel mutations in Italian patients with neurofibromatosis type 1Donatella Bianchessi, Sara Morosini, Veronica Saletti, et al.
Molecular Genetics & Genomic Medicine|January 8, 2016
The rs3737964 single-nucleotide polymorphism of the chloride channel-6 gene as a risk factor for coronary heart diseaseLi Zhang, Tao Zhang, Zhengkai Xiang, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
Global epidemiology of Familial Mediterranean fever mutations using population exome sequencesKohei Fujikura
Molecular Genetics & Genomic Medicine|August 7, 2015
Novel pathogenic variants and genes for myopathies identified by whole exome sequencingJesse M Hunter, Mary Ellen Ahearn, Christopher D Balak, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndromeJosephine Wincent, Aron Luthman, Martine van Belzen, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathPhilip M Boone, Bo Yuan, Shen Gu, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative diseaseSameer S Chopra, Ignaty Leshchiner, Hatice Duzkale, et al.
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