OSCR

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

This page is built on request from the registry's record of the paper. The 6,000 most recent papers have a fuller page, built ahead of time, with the Code ↔ Paper reader, the tracing map and its validation, the record's versions, how to cite it and similar papers. This paper is older: its record, its code, its data and the requests about it are below.

Overview

Authors: Eleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, Valentine Clerc, Xavier Grand, Tia Fletcher, Laloe Monteiro, Martijn Kerkhofs, Valerio Carelli, Flavia Palombo, Marco Seri, Giulia Olivucci, Mina Grippa, Claudia Ciaccio, Stefano D’Arrigo, Maria Iascone, Marion Bermudez, Jan Fischer, Nataliya Di Donato, Sophie Goesswein
and 25 other authorsMarco L Leung, Daniel C Koboldt, Cortlandt Myers, Gudny Anna Arnadottir, Kari Stefansson, Patrick Sulem, Ethan M Goldberg, Ange-Line Bruel, Frederic Tran-Mau-Them, Marjolaine Willems, Hans Tomas Bjornsson, Hakon Bjorn Hognason, Eirny Tholl Thorolfsdottir, Emanuele Agolini, Antonio Novelli, Giuseppe Zampino, Roberta Onesimo, Katherine Lachlan, Diana Baralle, Heidi L Rehm, Anne O’Donnell-Luria, Julien Courchet, Matt Guille, Cyril F Bourgeois, Sarah Ennis
Published: 1 April 2025
Type: Research article
License: CC BY-NC
Institutions: Broad Institute (United States), University of Southampton (United Kingdom), University of Portsmouth (United Kingdom), Lyon 1 Université (France), Centre National de la Recherche Scientifique (France), Inserm (France), Institut NeuroMyoGène (France), Laboratoire Physiopathologie et Génétique du Neurone et du Muscle (France), École Normale Supérieure de Lyon (France), Laboratoire de Biologie et Modélisation de la Cellule (France), Centre de Recherche en Cancérologie de Lyon (France), Istituto delle Scienze Neurologiche di Bologna (Italy), University of Bologna (Italy), IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (Italy), Fondazione IRCCS Istituto Neurologico Carlo Besta (Italy), Ospedale Papa Giovanni XXIII (Italy), University Hospital Carl Gustav Carus (Germany), Technische Universität Dresden (Germany), The Ohio State University (United States), Nationwide Children's Hospital (United States), deCODE Genetics (Iceland) (Iceland), Children's Hospital of Philadelphia (United States), University of Pennsylvania (United States), Université de Bourgogne (France), CHU Dijon Bourgogne (France), Centre de recherche Translationnelle en Médecine moléculaire (France), Centre Hospitalier Universitaire de Montpellier (France), National University Hospital of Iceland (Iceland), Bambino Gesù Children's Hospital (Italy), Istituti di Ricovero e Cura a Carattere Scientifico (Italy), Università Cattolica del Sacro Cuore (Italy), Agostino Gemelli University Polyclinic (Italy), University Hospital Southampton NHS Foundation Trust (United Kingdom), Massachusetts General Hospital (United States), Boston Children's Hospital (United States)

Code

The paper links to its data and to no code of its authors: see the Data section.

Data

Datasets cited

Contribute

The authors of this paper can claim it and correct its record, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to the registry's own machine, which answers it; your account page follows them.

Sign in with ORCID to claim this paper as one of its authors or correct its record: when the paper's metadata lists your ORCID iD, you are recognized at once. Maintainers of its code: sign in with GitHub, then claim the repository on your account page.

Request its removal

To ask for this record, the copies of its authors' scripts or its tracing map to be removed, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).