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Human Mutation|June 25, 2019
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorderRachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, et al.
Human Mutation|July 4, 2019
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndromeErfan Aref-Eshghi, Danielle K Bourque, Jennifer Kerkhof, et al.
Human Mutation|March 17, 2015
Next-generation diagnostics: gene panel, exome, or whole genome?Yu Sun, Claudia A L Ruivenkamp, Mariëtte J V Hoffer, et al.
Human Mutation|March 18, 2015
Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinaseJouni Väliaho, Imrul Faisal, Csaba Ortutay, et al.
Human Mutation|October 16, 2012
Genome-wide analysis of human SNPs at long intergenic noncoding RNAsGeng Chen, Chengxiang Qiu, Qipeng Zhang, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Human Mutation|September 6, 2012
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family RegistryBryony A Thompson, David E Goldgar, Carol Paterson, et al.
Human Mutation|September 6, 2012
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutionsBryony A Thompson, Marc S Greenblatt, Maxime P Vallee, et al.
Human Mutation|September 6, 2012
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutationMarie Marduel, Khadija Ouguerram, Valérie Serre, et al.
Human Mutation|August 26, 2020
Novel genotype-phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing lossSang-Yeon Lee, Jin Hee Han, Marge Carandang, et al.
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