One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

Authors :: 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
Eggermann, Thomas
Source :: Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021), Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x, Orphanet journal of rare diseases, London : BioMed Central Ltd., 2021, vol. 16, art. no. 42, p. [1-10]
Publication Year :: 2021
Abstract: Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x<br />Published by BioMed Central, London

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

Language :: English
ISSN :: 17501172
Database :: OpenAIRE
Journal :: Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021), Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x, Orphanet journal of rare diseases, London : BioMed Central Ltd., 2021, vol. 16, art. no. 42, p. [1-10]
Accession number :: edsair.doi.dedup.....f7639dffb3fcf5d07fdd896654cce830
Full Text :: https://doi.org/10.1186/s13023-021-01683-x

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