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Clinical and Translational Science|August 10, 2024
Benchmarking pharmacogenomics genotyping tools: Performance analysis on short-read sequencing samples and depth-dependent evaluationAndreas Halman, Sebastian Lunke, Simon Sadedin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 2, 2024
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing studyDylan A Mordaunt, Francisco Santos Gonzalez, Sebastian Lunke, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
De novo mutations in HNRNPU result in a neurodevelopmental syndromeT Michael Yates, Pradeep C Vasudevan, Kate E Chandler, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES dataZornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Human Mutation|March 30, 2019
TP63-truncating variants cause isolated premature ovarian insufficiencyElena J Tucker, Sylvie Jaillard, Sonia R Grover, et al.
Genome Biology|August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansionsHarriet Dashnow, Monkol Lek, Belinda Phipson, et al.
Epigenomics|October 4, 2024
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newbornsMohammed Alshawsh, Melissa Wake, Jozef Gecz, et al.
Human Molecular Genetics|September 20, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystoniaSophie Sleiman, Aren E Marshall, Xiaomin Dong, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
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