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https://doi.org/10.1136/jmedgenet-2020-107430
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Cite Journal: Journal of Medical Genetics |  Publication Date: Jan 4, 2021 |
 Citations: 6 |
Affiliation: Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Boston Children's Hospital, Sorbonne Université, Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris, Sapienza University of Rome, University of Rome Tor Vergata, Institute of Molecular and Clinical Ophthalmology Basel, Kingston Health Sciences Centre, Queen's University, Pitié-Salpêtrière Hospital, University of Lausanne, University of Basel
BackgroundNext-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnosed diseases. To date,...
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