Paper Details

Paper Title

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Paper Journal Title

Genet Med

Paper Citation Count

Paper Publication Year

2023

Bio Mention

Autism, Congenital Anomalies, Intellectual disability, RD, exomes, human, off-target regions, single

Mesh Descriptor

Author Name	Affiliation
Leslie Matalonga	Centre for Genomic Regulation," The Barcelona Institute of Science and Technology
Siddharth Banka	University of Manchester
Jill Clayton-Smith	University of Manchester
Bruno Dallapiccola	IRCCS
Christian Gilissen	The Netherlands Radboud Institute for Molecular Life Sciences, Radbound University
Manuel Posada	Institute of Rare Diseases Research, Instituto de Salud Carlos III
Francesca Clementina Radio	IRCCS
Alessandra Renieri	Department of Medical Biotechnologies, University of Siena, Azienda Ospedaliero-Universitaria Senese
Marco Tartaglia	IRCCS
Bert B A de Vries	The Netherlands Donders Institute for Brain

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Dataset	Description	Source Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link

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