Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing-Reference-Cited by-同舟云学术

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Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing

Published:2023-07 Issue:7 Volume:66 Page:104774
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Baalmann Nadja,Spielmann Malte,Gillessen- Kaesbach Gabriele,Hanker Britta,Schmidt Julia,Lill Christina M.,Hellenbroich Yorck,Greiten Bianca,Lohmann Katja,Trinh Joanne,Hüning Irina

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference38 articles.

1. Underdiagnoses resulting from variant misinterpretation: time for systematic reanalysis of whole exome data?;Al-Murshedi;Eur. J. Med. Genet.,2019

2. Actionable exomic incidental findings in 6503 participants: challenges of variant classification;Amendola;Genome Res.,2015

3. Whole exome sequencing in neurogenetic odysseys: an effective, cost- and time-saving diagnostic approach;Córdoba;PLoS One,2018

4. The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children;D'Arrigo;J. Child Neurol.,2016

5. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia;Gauthier;Hum. Genet.,2011

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