1. One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
- Author
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Ulrike Schara, Stephanie Demuth, Matthias Begemann, György Fekete, Laima Ambrozaityte, Magdeldin Elgizouli, Alma Kuechler, Daniela Dey, Asmaa Kenawy, Robert Meyer, Christian Thomas Hübner, Thomas Eggermann, Birute Burnyte, Miriam Elbracht, Thomas Opladen, Carmen Schröder, Peter M. Kroisel, University of Zurich, and Eggermann, Thomas
- Subjects
0301 basic medicine ,2716 Genetics (clinical) ,10039 Institute of Medical Genetics ,Genetic counseling ,Medizin ,lcsh:Medicine ,610 Medicine & health ,030105 genetics & heredity ,DNA sequencing ,Silver–Russell syndrome ,03 medical and health sciences ,Next generation sequencing ,Exome Sequencing ,Clinical heterogeneity ,parasitic diseases ,2736 Pharmacology (medical) ,Humans ,Medicine ,Diagnostic detection rate ,Pharmacology (medical) ,Genetics (clinical) ,Exome sequencing ,Chromosome 7 (human) ,Genetics ,business.industry ,Research ,lcsh:R ,Whole exome sequencing ,next generation sequencing ,diagnostic detection rate ,whole exome sequencing ,targeted multigene panel NGS ,General Medicine ,DNA Methylation ,Uniparental Disomy ,medicine.disease ,Phenotype ,Human genetics ,Targeted multigene panel NGS ,Silver-Russell Syndrome ,030104 developmental biology ,Molecular Diagnostic Techniques ,570 Life sciences ,biology ,business - Abstract
Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x, Published by BioMed Central, London
- Published
- 2021
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