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Genome|April 3, 2003
Isolation and linkage analysis of expressed disease-resistance gene analogues of sugar beet (Beta vulgaris L.)Sandra Hunger, Gabriele Di Gaspero, Slike Möhring, et al.
Journal of Neurology|November 21, 2019
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatmentJoanne Trinh, Sophie Imhoff, Marija Dulovic-Mahlow, et al.
Genome Biology|January 30, 2015
Using the canary genome to decipher the evolution of hormone-sensitive gene regulation in seasonal singing birdsCarolina Frankl-Vilches, Heiner Kuhl, Martin Werber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2018
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient populationPeter Bauer, Krishna Kumar Kandaswamy, Maximilian E R Weiss, et al.
European Journal of Human Genetics : EJHG|November 6, 2009
High-throughput sequencing of microdissected chromosomal regionsAnja Weise, Bernd Timmermann, Manfred Grabherr, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTRDaniel Trujillano, Maximilian E R Weiss, Julia Köster, et al.
Plos One|January 5, 2011
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysisBernd Timmermann, Martin Kerick, Christina Roehr, et al.
American Journal of Human Genetics|June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental DisordersMarija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
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