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Biorxiv : the Preprint Server for Biology|October 4, 2023
Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autismYonatan Perez, Dmitry Velmeshev, Li Wang, et al.Circulation. Genomic and Precision Medicine|December 21, 2018
Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium ChannelMax Drabkin, Noam Zilberberg, Sasson Menahem, et al.The Journal of Clinical Investigation|October 23, 2019
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenaseMax Drabkin, Yuval Yogev, Lior Zeller, et al.BMJ Open|November 12, 2020
Awake prone positioning of hypoxaemic patients with COVID-19: protocol for a randomised controlled open-label superiority meta-trialElsa Tavernier, Bairbre McNicholas, Ivan Pavlov, et al.BMC Medical Genetics|August 1, 2016
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindredLibe Gradstein, Jenny Zolotushko, Yuri V Sergeev, et al.Brain : a Journal of Neurology|March 10, 2018
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3Yonatan Perez, Shay Menascu, Idan Cohen, et al.Human Molecular Genetics|September 12, 2015
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delayMichael Volodarsky, Hava Lichtig, Tom Leibson, et al.European Respiratory Review : an Official Journal of the European Respiratory Society|May 3, 2023
Awake prone positioning in acute hypoxaemic respiratory failureBairbre A McNicholas, Miguel Ibarra-Estrada, Yonatan Perez, et al.Journal of Medical Genetics|January 31, 2024
ZNF142 mutation causes sex-dependent neurologic disorderRegina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer, et al.The Journal of Experimental Medicine|September 4, 2020
Phenotypical and functional alteration of unconventional T cells in severe COVID-19 patientsYouenn Jouan, Antoine Guillon, Loïc Gonzalez, et al.Pageof 5