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Neuropediatrics|March 28, 2024
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years AgoMaureen Jacob, Melanie Brugger, Stephanie Andres, et al.
Ebiomedicine|February 14, 2024
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activityPhilip Harrer, Julica Inderhees, Chen Zhao, et al.
Plos One|May 27, 2015
Connecting Anxiety and Genomic Copy Number Variation: A Genome-Wide Analysis in CD-1 MiceJulia Brenndörfer, André Altmann, Regina Widner-Andrä, et al.
Sleep Medicine|April 30, 2022
ExomeChip-based rare variant association study in restless legs syndromeErik Tilch, Barbara Schormair, Chen Zhao, et al.
Plos One|May 14, 2015
Using the MCF10A/MCF10CA1a Breast Cancer Progression Cell Line Model to Investigate the Effect of Active, Mutant Forms of EGFR in Breast Cancer Development and Treatment Using GefitinibDarrell C Bessette, Erik Tilch, Tatjana Seidens, et al.
American Journal of Human Genetics|July 5, 2014
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndromeEva C Schulte, Maria Kousi, Perciliz L Tan, et al.
Annals of Neurology|December 3, 2019
Identification of Restless Legs Syndrome Genes by Mutational Load AnalysisErik Tilch, Barbara Schormair, Chen Zhao, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in DystoniaUgo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Kidney International Reports|April 14, 2025
Trio Exome Sequencing in VACTERL AssociationJasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, et al.
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