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Human Mutation|October 21, 2009
Deep sequencing to reveal new variants in pooled DNA samplesAstrid A Out, Ivonne J H M van Minderhout, Jelle J Goeman, et al.Human Mutation|October 23, 2009
Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effectEng-King Tan, F Shaffra Refai, Mobin Siddique, et al.Human Mutation|February 13, 2010
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradationStefanie Löffek, Stefan Wöll, Jörg Höhfeld, et al.Human Mutation|September 9, 2016
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome SequencingSteve Laurie, Marcos Fernandez-Callejo, Santiago Marco-Sola, et al.Human Mutation|September 3, 2016
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 ChannelTakashi Murayama, Nagomi Kurebayashi, Haruo Ogawa, et al.Human Mutation|May 26, 2017
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defectChristine Edelbusch, Sandra Cindrić, Gerard W Dougherty, et al.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.Pageof 577