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Genome Medicine|August 29, 2015
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical settingMárton Münz, Elise Ruark, Anthony Renwick, et al.Wellcome Open Research|May 2, 2017
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoNAnna Fowler, Shazia Mahamdallie, Elise Ruark, et al.Wellcome Open Research|June 21, 2017
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS dataShazia Mahamdallie, Elise Ruark, Shawn Yost, et al.F1000Research|February 3, 2016
The ICR1000 UK exome series: a resource of gene variation in an outbred populationElise Ruark, Márton Münz, Anthony Renwick, et al.Sports Medicine (Auckland, N.Z.)|April 5, 2021
Non-local Muscle Fatigue Effects on Muscle Strength, Power, and Endurance in Healthy Individuals: A Systematic Review with Meta-analysisDavid G Behm, Shahab Alizadeh, Saman Hadjizedah Anvar, et al.Human Molecular Genetics|May 15, 2015
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowthChey Loveday, Katrina Tatton-Brown, Matthew Clarke, et al.American Journal of Human Genetics|May 6, 2017
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual DisabilityKatrina Tatton-Brown, Chey Loveday, Shawn Yost, et al.Nature Communications|August 8, 2014
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumourSandra Hanks, Elizabeth R Perdeaux, Sheila Seal, et al.Nature Genetics|May 30, 2017
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregationShawn Yost, Bas de Wolf, Sandra Hanks, et al.Human Molecular Genetics|October 5, 2014
Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25Kevin Litchfield, Razvan Sultana, Anthony Renwick, et al.Pageof 3