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Human Mutation|June 7, 2017
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosisVirginie Grandin, Fernando E Sepulveda, Nathalie Lambert, et al.Human Mutation|June 23, 2017
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism casesMarie Bernkopf, David Hunt, Nils Koelling, et al.Human Mutation|June 11, 2017
DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learningLaksshman Sundaram, Rajendra Rana Bhat, Vivek Viswanath, et al.Human Mutation|November 10, 2005
Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary diseaseSally Chappell, Leslie Daly, Kevin Morgan, et al.Human Mutation|March 10, 2010
Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse modelAli Entezam, Adihe Rachel Lokanga, Wei Le, et al.Human Mutation|February 27, 2010
Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter studyEng-King Tan, Rong Peng, Yik-Ying Teo, et al.Human Mutation|February 27, 2010
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidismCandice Hoste, Sabrina Rigutto, Guy Van Vliet, et al.Human Mutation|November 26, 2009
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohortKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.Human Mutation|June 14, 2017
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetasesLuc Moulinier, Raymond Ripp, Gaston Castillo, et al.Human Mutation|April 16, 2018
Genotype-specific progression of hereditary medullary thyroid cancerAndreas Machens, Kerstin Lorenz, Frank Weber, et al.Pageof 574