Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach
Author:
Funder
NIH
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
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1. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels;Genetics in Medicine;2022-09
2. Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution;The American Journal of Human Genetics;2021-09
3. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum;Journal of Medical Genetics;2021-07-28
4. 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies;BMC Medical Genomics;2021-04-09
5. Carrier testing for autosomal recessive disorders: a look at current practice in Germany;Medizinische Genetik;2021-04-01
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