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Human Mutation|January 15, 2004
Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integrationDan Mishmar, Eduardo Ruiz-Pesini, Martin Brandon, et al.
Human Mutation|January 15, 2004
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumorsMeena Upadhyaya, Song Han, Claudia Consoli, et al.
Human Mutation|January 15, 2004
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsyLeonarda Ianzano, Edwin J Young, Xiao C Zhao, et al.
Human Mutation|January 15, 2004
Context of deletions and insertions in human coding sequencesAlexey S Kondrashov, Igor B Rogozin
Human Mutation|January 15, 2004
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer familiesMani T Valarmathi, Meenakshi Sawhney, Suryanarayana S V Deo, et al.
Human Mutation|September 11, 2008
Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patientsMayumi Enya, Yukio Horikawa, Eiji Kuroda, et al.
Human Mutation|February 13, 2010
The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cellsRui Bi, A-Mei Zhang, Wen Zhang, et al.
Human Mutation|June 6, 2017
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of functionJin James Zhao, Jonatan Halvardson, Alexej Knaus, et al.
Human Mutation|September 21, 2016
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big DatabasesAmélie Pinard, David Salgado, Jean-Pierre Desvignes, et al.
Human Mutation|February 27, 2010
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patientsHeleen M van der Klift, Carli M J Tops, Elsa C Bik, et al.
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