Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies Article Swipe

PDF

Elsa Leitão , A. Santini , Benjamin Cogné , Miriam Essid , Maria Athanasiadou , Christy W. LaFlamme , Pierre Marijon , Virginie Bernard , Nicolas Chatron , Giulia Barcia , Boris Keren , Cyril Mignot , Perrine Charles , Thomas Besnard , Jean‐Madeleine de Sainte Agathe , Edith P. Almanza Fuerte , Soham Sengupta , Mathieu Milh , Francis Ramond , Talia Allan , Isabelle An , Camila Araújo , Stéphanie Arpin , Christina Austin‐Tse , Stéphane Auvin , Sarah Baer , Nadia Bahi‐Buisson , Mads Bak , Magalie Barth , Stéphanie Baulac , Nathalie Bednark Weirauch , Matthias Begemann , Mark F. Bennett , Uriel Bensabath , Stéphane Bézieau , Rakia Bhouri , Margaux Biehler , Trine Bjørg Hammer , Julie Bogoin , Elena Bonanno , Simon Boussion , Nuria C. Bramswig , Céline Bris , Adelaide Brosseau-Beauvir , Ange-Line Bruel , Julien Buratti , Pascal Chambon , Nicole Chémaly , Bertrand Chesneau , Estelle Colin , Maxime Colmard , Solène Conrad , Thomas Courtin , Louis T. Dang , Anne de Saint Martin , Christophe Legendre , Anne‐Sophie Denommé‐Pichon , Stephanie DiTroia , Martine Doco‐Fenzy , Christèle Dubourg , Charlotte Dubucs , Stéphanie Ducreux , Louis Dufour , Romain Duquet , Benjamin Durand , Salima El Chehadeh , Miriam Elbracht , Laurence Faivre , Marie Faoucher , Anne Faudet , Sylvie Forlani , Mélanie Fradin , Pauline Gaignard , Benjamin Ganne , Aurore Garde , J Géraud , Deepak Gill , Alice Goldenberg , David Grabli , Coraline Grisel , Sophie Guéden , Paul Gueguen , Anne-Marie Guerrot , Agnès Guichet , Nina Härting , Martin Häusler , Solveig Heide , Bénédicte Héron , Delphine Héron , Mathilde Heulin , Clara Houdayer , Bertrand Isidor , Aurélia Jacquette , Louis Januel , Nolwenn Jean‐Marçais , Kévin Jousselin , Frank J. Kaiser , Sabine Kaya , Chontelle King , Marina Konyukh ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1101/2025.09.02.25334923

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, previously overlooked role for noncoding snRNAs in human disease. Here, we systematically analysed 200 potentially functional snRNA genes in a French cohort comprising 26,911 individuals with rare disorders and through international collaborations. We identify de novo and biallelic variants in RNU2-2 associated with both dominant and recessive NDDs in 126 individuals from 108 unrelated families. Recessive RNU2-2 NDD is at least twice as frequent as the dominant NDD caused by n.4G>A and n.35A>G, and often arises from a de novo variant in trans with an inherited allele, reflecting the high mutability of snRNA genes. Dominant and recessive RNU2-2 -NDDs share overlapping clinical features with frequent epilepsy. Blood transcriptomics and DNA methylation analyses revealed subtle, variant-specific effects on splicing and episignatures. Our findings support a gradient-of-impact model and a continuum between dominant and recessive inheritance, establishing RNU2-2 variants as a frequent cause of NDDs, nearly as prevalent as ReNU syndrome.

Related Topics

Biology

Concepts

Genetics Biology Gene

Metadata

Type: preprint
Language: en
Landing Page: https://doi.org/10.1101/2025.09.02.25334923
PDF: https://www.medrxiv.org/content/medrxiv/early/2025/09/04/2025.09.02.25334923.full.pdf
OA Status: green
References: 54
Related Works: 10
OpenAlex ID: https://openalex.org/W4413974933

All OpenAlex metadata

Raw OpenAlex JSON

OpenAlex ID: https://openalex.org/W4413974933

Canonical identifier for this work in OpenAlex
DOI: https://doi.org/10.1101/2025.09.02.25334923

Digital Object Identifier
Title: Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Work title
Type: preprint

OpenAlex work type
Language: en

Primary language
Publication year: 2025

Year of publication
Publication date: 2025-09-04

Full publication date if available
Authors: Elsa Leitão, A. Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, Pierre Marijon, Virginie Bernard, Nicolas Chatron, Giulia Barcia, Boris Keren, Cyril Mignot, Perrine Charles, Thomas Besnard, Jean‐Madeleine de Sainte Agathe, Edith P. Almanza Fuerte, Soham Sengupta, Mathieu Milh, Francis Ramond, Talia Allan, Isabelle An, Camila Araújo, Stéphanie Arpin, Christina Austin‐Tse, Stéphane Auvin, Sarah Baer, Nadia Bahi‐Buisson, Mads Bak, Magalie Barth, Stéphanie Baulac, Nathalie Bednark Weirauch, Matthias Begemann, Mark F. Bennett, Uriel Bensabath, Stéphane Bézieau, Rakia Bhouri, Margaux Biehler, Trine Bjørg Hammer, Julie Bogoin, Elena Bonanno, Simon Boussion, Nuria C. Bramswig, Céline Bris, Adelaide Brosseau-Beauvir, Ange-Line Bruel, Julien Buratti, Pascal Chambon, Nicole Chémaly, Bertrand Chesneau, Estelle Colin, Maxime Colmard, Solène Conrad, Thomas Courtin, Louis T. Dang, Anne de Saint Martin, Christophe Legendre, Anne‐Sophie Denommé‐Pichon, Stephanie DiTroia, Martine Doco‐Fenzy, Christèle Dubourg, Charlotte Dubucs, Stéphanie Ducreux, Louis Dufour, Romain Duquet, Benjamin Durand, Salima El Chehadeh, Miriam Elbracht, Laurence Faivre, Marie Faoucher, Anne Faudet, Sylvie Forlani, Mélanie Fradin, Pauline Gaignard, Benjamin Ganne, Aurore Garde, J Géraud, Deepak Gill, Alice Goldenberg, David Grabli, Coraline Grisel, Sophie Guéden, Paul Gueguen, Anne-Marie Guerrot, Agnès Guichet, Nina Härting, Martin Häusler, Solveig Heide, Bénédicte Héron, Delphine Héron, Mathilde Heulin, Clara Houdayer, Bertrand Isidor, Aurélia Jacquette, Louis Januel, Nolwenn Jean‐Marçais, Kévin Jousselin, Frank J. Kaiser, Sabine Kaya, Chontelle King, Marina Konyukh

List of authors in order
Landing page: https://doi.org/10.1101/2025.09.02.25334923

Publisher landing page
PDF URL: https://www.medrxiv.org/content/medrxiv/early/2025/09/04/2025.09.02.25334923.full.pdf

Direct link to full text PDF
Open access: Yes

Whether a free full text is available
OA status: green

Open access status per OpenAlex
OA URL: https://www.medrxiv.org/content/medrxiv/early/2025/09/04/2025.09.02.25334923.full.pdf

Direct OA link when available
Concepts: Genetics, Biology, Gene

Top concepts (fields/topics) attached by OpenAlex
Cited by: 0

Total citation count in OpenAlex
References (count): 54

Number of works referenced by this work
Related works (count): 10

Other works algorithmically related by OpenAlex

Full payload

id	https://openalex.org/W4413974933
doi	https://doi.org/10.1101/2025.09.02.25334923
ids.doi	https://doi.org/10.1101/2025.09.02.25334923
ids.pmid	https://pubmed.ncbi.nlm.nih.gov/40950445
ids.openalex	https://openalex.org/W4413974933
fwci	0.0
type	preprint
title	Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
biblio.issue
biblio.volume
biblio.last_page
biblio.first_page
topics[0].id	https://openalex.org/T10604
topics[0].field.id	https://openalex.org/fields/13
topics[0].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[0].score	0.9998999834060669
topics[0].domain.id	https://openalex.org/domains/1
topics[0].domain.display_name	Life Sciences
topics[0].subfield.id	https://openalex.org/subfields/1312
topics[0].subfield.display_name	Molecular Biology
topics[0].display_name	RNA Research and Splicing
topics[1].id	https://openalex.org/T11482
topics[1].field.id	https://openalex.org/fields/13
topics[1].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[1].score	0.9998000264167786
topics[1].domain.id	https://openalex.org/domains/1
topics[1].domain.display_name	Life Sciences
topics[1].subfield.id	https://openalex.org/subfields/1312
topics[1].subfield.display_name	Molecular Biology
topics[1].display_name	RNA modifications and cancer
topics[2].id	https://openalex.org/T12610
topics[2].field.id	https://openalex.org/fields/13
topics[2].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[2].score	0.9995999932289124
topics[2].domain.id	https://openalex.org/domains/1
topics[2].domain.display_name	Life Sciences
topics[2].subfield.id	https://openalex.org/subfields/1312
topics[2].subfield.display_name	Molecular Biology
topics[2].display_name	RNA regulation and disease
is_xpac	False
apc_list
apc_paid
concepts[0].id	https://openalex.org/C54355233
concepts[0].level	1
concepts[0].score	0.6303187608718872
concepts[0].wikidata	https://www.wikidata.org/wiki/Q7162
concepts[0].display_name	Genetics
concepts[1].id	https://openalex.org/C86803240
concepts[1].level	0
concepts[1].score	0.5596402883529663
concepts[1].wikidata	https://www.wikidata.org/wiki/Q420
concepts[1].display_name	Biology
concepts[2].id	https://openalex.org/C104317684
concepts[2].level	2
concepts[2].score	0.5592726469039917
concepts[2].wikidata	https://www.wikidata.org/wiki/Q7187
concepts[2].display_name	Gene
keywords[0].id	https://openalex.org/keywords/genetics
keywords[0].score	0.6303187608718872
keywords[0].display_name	Genetics
keywords[1].id	https://openalex.org/keywords/biology
keywords[1].score	0.5596402883529663
keywords[1].display_name	Biology
keywords[2].id	https://openalex.org/keywords/gene
keywords[2].score	0.5592726469039917
keywords[2].display_name	Gene
language	en
locations[0].id	doi:10.1101/2025.09.02.25334923
locations[0].is_oa	True
locations[0].source.id	https://openalex.org/S4306402567
locations[0].source.issn
locations[0].source.type	repository
locations[0].source.is_oa	False
locations[0].source.issn_l
locations[0].source.is_core	False
locations[0].source.is_in_doaj	False
locations[0].source.display_name	bioRxiv (Cold Spring Harbor Laboratory)
locations[0].source.host_organization	https://openalex.org/I2750212522
locations[0].source.host_organization_name	Cold Spring Harbor Laboratory
locations[0].source.host_organization_lineage	https://openalex.org/I2750212522
locations[0].license	cc-by-nc
locations[0].pdf_url	https://www.medrxiv.org/content/medrxiv/early/2025/09/04/2025.09.02.25334923.full.pdf
locations[0].version	acceptedVersion
locations[0].raw_type	posted-content
locations[0].license_id	https://openalex.org/licenses/cc-by-nc
locations[0].is_accepted	True
locations[0].is_published	False
locations[0].raw_source_name
locations[0].landing_page_url	https://doi.org/10.1101/2025.09.02.25334923
locations[1].id	pmid:40950445
locations[1].is_oa	False
locations[1].source.id	https://openalex.org/S4306525036
locations[1].source.issn
locations[1].source.type	repository
locations[1].source.is_oa	False
locations[1].source.issn_l
locations[1].source.is_core	False
locations[1].source.is_in_doaj	False
locations[1].source.display_name	PubMed
locations[1].source.host_organization	https://openalex.org/I1299303238
locations[1].source.host_organization_name	National Institutes of Health
locations[1].source.host_organization_lineage	https://openalex.org/I1299303238
locations[1].license
locations[1].pdf_url
locations[1].version	publishedVersion
locations[1].raw_type
locations[1].license_id
locations[1].is_accepted	True
locations[1].is_published	True
locations[1].raw_source_name	medRxiv : the preprint server for health sciences
locations[1].landing_page_url	https://pubmed.ncbi.nlm.nih.gov/40950445
indexed_in	crossref, pubmed
authorships[0].author.id	https://openalex.org/A5002097868
authorships[0].author.orcid	https://orcid.org/0000-0001-5051-9714
authorships[0].author.display_name	Elsa Leitão
authorships[0].countries	DE
authorships[0].affiliations[0].institution_ids	https://openalex.org/I62318514
authorships[0].affiliations[0].raw_affiliation_string	Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany
authorships[0].institutions[0].id	https://openalex.org/I62318514
authorships[0].institutions[0].ror	https://ror.org/04mz5ra38
authorships[0].institutions[0].type	education
authorships[0].institutions[0].lineage	https://openalex.org/I62318514
authorships[0].institutions[0].country_code	DE
authorships[0].institutions[0].display_name	University of Duisburg-Essen
authorships[0].author_position	first
authorships[0].raw_author_name	Elsa Leitão
authorships[0].is_corresponding	False
authorships[0].raw_affiliation_strings	Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany
authorships[1].author.id	https://openalex.org/A5016830480
authorships[1].author.orcid
authorships[1].author.display_name	A. Santini
authorships[1].countries	FR
authorships[1].affiliations[0].institution_ids	https://openalex.org/I154526488, https://openalex.org/I4210105918, https://openalex.org/I62396329
authorships[1].affiliations[0].raw_affiliation_string	Univ Rouen Normandie, Normandie Univ, Inserm U145 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France
authorships[1].institutions[0].id	https://openalex.org/I154526488
authorships[1].institutions[0].ror	https://ror.org/02vjkv261
authorships[1].institutions[0].type	government
authorships[1].institutions[0].lineage	https://openalex.org/I154526488
authorships[1].institutions[0].country_code	FR
authorships[1].institutions[0].display_name	Inserm
authorships[1].institutions[1].id	https://openalex.org/I4210105918
authorships[1].institutions[1].ror	https://ror.org/01k40cz91
authorships[1].institutions[1].type	education
authorships[1].institutions[1].lineage	https://openalex.org/I4210105918
authorships[1].institutions[1].country_code	FR
authorships[1].institutions[1].display_name	Normandie Université
authorships[1].institutions[2].id	https://openalex.org/I62396329
authorships[1].institutions[2].ror	https://ror.org/03nhjew95
authorships[1].institutions[2].type	education
authorships[1].institutions[2].lineage	https://openalex.org/I4210105918, https://openalex.org/I62396329
authorships[1].institutions[2].country_code	FR
authorships[1].institutions[2].display_name	Université de Rouen Normandie
authorships[1].author_position	middle
authorships[1].raw_author_name	Amandine Santini
authorships[1].is_corresponding	False
authorships[1].raw_affiliation_strings	Univ Rouen Normandie, Normandie Univ, Inserm U145 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France
authorships[2].author.id	https://openalex.org/A5107656819
authorships[2].author.orcid	https://orcid.org/0000-0002-5503-6292
authorships[2].author.display_name	Benjamin Cogné
authorships[2].countries	FR
authorships[2].affiliations[0].institution_ids	https://openalex.org/I3019204325, https://openalex.org/I4210157800, https://openalex.org/I97188460
authorships[2].affiliations[0].raw_affiliation_string	Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
authorships[2].institutions[0].id	https://openalex.org/I3019204325
authorships[2].institutions[0].ror	https://ror.org/05c1qsg97
authorships[2].institutions[0].type	healthcare
authorships[2].institutions[0].lineage	https://openalex.org/I3019204325
authorships[2].institutions[0].country_code	FR
authorships[2].institutions[0].display_name	Centre Hospitalier Universitaire de Nantes
authorships[2].institutions[1].id	https://openalex.org/I4210157800
authorships[2].institutions[1].ror	https://ror.org/04fc8dp24
authorships[2].institutions[1].type	facility
authorships[2].institutions[1].lineage	https://openalex.org/I154526488, https://openalex.org/I21491767, https://openalex.org/I4210111578, https://openalex.org/I4210157800
authorships[2].institutions[1].country_code	FR
authorships[2].institutions[1].display_name	Génétique Médicale & Génomique Fonctionelle
authorships[2].institutions[2].id	https://openalex.org/I97188460
authorships[2].institutions[2].ror	https://ror.org/03gnr7b55
authorships[2].institutions[2].type	education
authorships[2].institutions[2].lineage	https://openalex.org/I97188460
authorships[2].institutions[2].country_code	FR
authorships[2].institutions[2].display_name	Nantes Université
authorships[2].author_position	middle
authorships[2].raw_author_name	Benjamin Cogne
authorships[2].is_corresponding	False
authorships[2].raw_affiliation_strings	Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
authorships[3].author.id	https://openalex.org/A5092993107
authorships[3].author.orcid	https://orcid.org/0009-0009-8129-164X
authorships[3].author.display_name	Miriam Essid
authorships[3].countries	FR
authorships[3].affiliations[0].institution_ids	https://openalex.org/I4210100596
authorships[3].affiliations[0].raw_affiliation_string	Genetics Department, Hospices Civils de Lyon, Lyon, France
authorships[3].institutions[0].id	https://openalex.org/I4210100596
authorships[3].institutions[0].ror	https://ror.org/01502ca60
authorships[3].institutions[0].type	healthcare
authorships[3].institutions[0].lineage	https://openalex.org/I4210100596
authorships[3].institutions[0].country_code	FR
authorships[3].institutions[0].display_name	Hospices Civils de Lyon
authorships[3].author_position	middle
authorships[3].raw_author_name	Myriam Essid
authorships[3].is_corresponding	False
authorships[3].raw_affiliation_strings	Genetics Department, Hospices Civils de Lyon, Lyon, France
authorships[4].author.id	https://openalex.org/A5119535026
authorships[4].author.orcid
authorships[4].author.display_name	Maria Athanasiadou
authorships[4].countries	FR
authorships[4].affiliations[0].institution_ids	https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210086872, https://openalex.org/I68947357
authorships[4].affiliations[0].raw_affiliation_string	CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 128, Illkirch, France
authorships[4].institutions[0].id	https://openalex.org/I1294671590
authorships[4].institutions[0].ror	https://ror.org/02feahw73
authorships[4].institutions[0].type	government
authorships[4].institutions[0].lineage	https://openalex.org/I1294671590
authorships[4].institutions[0].country_code	FR
authorships[4].institutions[0].display_name	Centre National de la Recherche Scientifique
authorships[4].institutions[1].id	https://openalex.org/I154526488
authorships[4].institutions[1].ror	https://ror.org/02vjkv261
authorships[4].institutions[1].type	government
authorships[4].institutions[1].lineage	https://openalex.org/I154526488
authorships[4].institutions[1].country_code	FR
authorships[4].institutions[1].display_name	Inserm
authorships[4].institutions[2].id	https://openalex.org/I4210086872
authorships[4].institutions[2].ror	https://ror.org/0015ws592
authorships[4].institutions[2].type	facility
authorships[4].institutions[2].lineage	https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210086872, https://openalex.org/I4210096427, https://openalex.org/I68947357
authorships[4].institutions[2].country_code	FR
authorships[4].institutions[2].display_name	Institut de génétique et de biologie moléculaire et cellulaire
authorships[4].institutions[3].id	https://openalex.org/I68947357
authorships[4].institutions[3].ror	https://ror.org/00pg6eq24
authorships[4].institutions[3].type	education
authorships[4].institutions[3].lineage	https://openalex.org/I68947357
authorships[4].institutions[3].country_code	FR
authorships[4].institutions[3].display_name	Université de Strasbourg
authorships[4].author_position	middle
authorships[4].raw_author_name	Maria Athanasiadou
authorships[4].is_corresponding	False
authorships[4].raw_affiliation_strings	CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 128, Illkirch, France
authorships[5].author.id	https://openalex.org/A5053679584
authorships[5].author.orcid	https://orcid.org/0000-0002-0808-3475
authorships[5].author.display_name	Christy W. LaFlamme
authorships[5].countries	US
authorships[5].affiliations[0].institution_ids	https://openalex.org/I1313298211
authorships[5].affiliations[0].raw_affiliation_string	Center for Pediatric Neurological Disease Research, St. Jude Children s Research Hospital, Memphis, TN, USA
authorships[5].institutions[0].id	https://openalex.org/I1313298211
authorships[5].institutions[0].ror	https://ror.org/02r3e0967
authorships[5].institutions[0].type	healthcare
authorships[5].institutions[0].lineage	https://openalex.org/I1313298211, https://openalex.org/I2802152183
authorships[5].institutions[0].country_code	US
authorships[5].institutions[0].display_name	St. Jude Children's Research Hospital
authorships[5].author_position	middle
authorships[5].raw_author_name	Christy W. LaFlamme
authorships[5].is_corresponding	False
authorships[5].raw_affiliation_strings	Center for Pediatric Neurological Disease Research, St. Jude Children s Research Hospital, Memphis, TN, USA
authorships[6].author.id	https://openalex.org/A5053004781
authorships[6].author.orcid	https://orcid.org/0000-0002-6694-6873
authorships[6].author.display_name	Pierre Marijon
authorships[6].countries	FR
authorships[6].affiliations[0].institution_ids	https://openalex.org/I144889574
authorships[6].affiliations[0].raw_affiliation_string	Laboratoire SeqOIA, Paris, France
authorships[6].institutions[0].id	https://openalex.org/I144889574
authorships[6].institutions[0].ror	https://ror.org/01frn9647
authorships[6].institutions[0].type	education
authorships[6].institutions[0].lineage	https://openalex.org/I144889574
authorships[6].institutions[0].country_code	FR
authorships[6].institutions[0].display_name	Université de Pau et des Pays de l'Adour
authorships[6].author_position	middle
authorships[6].raw_author_name	Pierre Marijon
authorships[6].is_corresponding	False
authorships[6].raw_affiliation_strings	Laboratoire SeqOIA, Paris, France
authorships[7].author.id	https://openalex.org/A5039569090
authorships[7].author.orcid
authorships[7].author.display_name	Virginie Bernard
authorships[7].affiliations[0].raw_affiliation_string	GCS AURAGEN, Lyon, France
authorships[7].author_position	middle
authorships[7].raw_author_name	Virginie Bernard
authorships[7].is_corresponding	False
authorships[7].raw_affiliation_strings	GCS AURAGEN, Lyon, France
authorships[8].author.id	https://openalex.org/A5091474449
authorships[8].author.orcid	https://orcid.org/0000-0003-0538-0981
authorships[8].author.display_name	Nicolas Chatron
authorships[8].countries	FR
authorships[8].affiliations[0].institution_ids	https://openalex.org/I4210100596
authorships[8].affiliations[0].raw_affiliation_string	Genetics Department, Hospices Civils de Lyon, Lyon, France
authorships[8].institutions[0].id	https://openalex.org/I4210100596
authorships[8].institutions[0].ror	https://ror.org/01502ca60
authorships[8].institutions[0].type	healthcare
authorships[8].institutions[0].lineage	https://openalex.org/I4210100596
authorships[8].institutions[0].country_code	FR
authorships[8].institutions[0].display_name	Hospices Civils de Lyon
authorships[8].author_position	middle
authorships[8].raw_author_name	Nicolas Chatron
authorships[8].is_corresponding	False
authorships[8].raw_affiliation_strings	Genetics Department, Hospices Civils de Lyon, Lyon, France
authorships[9].author.id	https://openalex.org/A5014090979
authorships[9].author.orcid	https://orcid.org/0000-0001-6657-5040
authorships[9].author.display_name	Giulia Barcia
authorships[9].countries	FR
authorships[9].affiliations[0].institution_ids	https://openalex.org/I1288880153, https://openalex.org/I4210097159
authorships[9].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France
authorships[9].institutions[0].id	https://openalex.org/I4210097159
authorships[9].institutions[0].ror	https://ror.org/00pg5jh14
authorships[9].institutions[0].type	healthcare
authorships[9].institutions[0].lineage	https://openalex.org/I4210097159
authorships[9].institutions[0].country_code	FR
authorships[9].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[9].institutions[1].id	https://openalex.org/I1288880153
authorships[9].institutions[1].ror	https://ror.org/05tr67282
authorships[9].institutions[1].type	healthcare
authorships[9].institutions[1].lineage	https://openalex.org/I1288880153, https://openalex.org/I4210097159, https://openalex.org/I4210120235
authorships[9].institutions[1].country_code	FR
authorships[9].institutions[1].display_name	Hôpital Necker-Enfants Malades
authorships[9].author_position	middle
authorships[9].raw_author_name	Giulia Barcia
authorships[9].is_corresponding	False
authorships[9].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France
authorships[10].author.id	https://openalex.org/A5007008333
authorships[10].author.orcid	https://orcid.org/0000-0001-6172-8247
authorships[10].author.display_name	Boris Keren
authorships[10].countries	FR
authorships[10].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[10].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[10].institutions[0].id	https://openalex.org/I4210097159
authorships[10].institutions[0].ror	https://ror.org/00pg5jh14
authorships[10].institutions[0].type	healthcare
authorships[10].institutions[0].lineage	https://openalex.org/I4210097159
authorships[10].institutions[0].country_code	FR
authorships[10].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[10].institutions[1].id	https://openalex.org/I39804081
authorships[10].institutions[1].ror	https://ror.org/02en5vm52
authorships[10].institutions[1].type	education
authorships[10].institutions[1].lineage	https://openalex.org/I39804081
authorships[10].institutions[1].country_code	FR
authorships[10].institutions[1].display_name	Sorbonne Université
authorships[10].author_position	middle
authorships[10].raw_author_name	Boris Keren
authorships[10].is_corresponding	False
authorships[10].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[11].author.id	https://openalex.org/A5075161655
authorships[11].author.orcid	https://orcid.org/0000-0002-3462-3463
authorships[11].author.display_name	Cyril Mignot
authorships[11].countries	FR
authorships[11].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[11].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[11].institutions[0].id	https://openalex.org/I4210097159
authorships[11].institutions[0].ror	https://ror.org/00pg5jh14
authorships[11].institutions[0].type	healthcare
authorships[11].institutions[0].lineage	https://openalex.org/I4210097159
authorships[11].institutions[0].country_code	FR
authorships[11].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[11].institutions[1].id	https://openalex.org/I39804081
authorships[11].institutions[1].ror	https://ror.org/02en5vm52
authorships[11].institutions[1].type	education
authorships[11].institutions[1].lineage	https://openalex.org/I39804081
authorships[11].institutions[1].country_code	FR
authorships[11].institutions[1].display_name	Sorbonne Université
authorships[11].author_position	middle
authorships[11].raw_author_name	Cyril Mignot
authorships[11].is_corresponding	False
authorships[11].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[12].author.id	https://openalex.org/A5084340584
authorships[12].author.orcid	https://orcid.org/0000-0002-3108-2171
authorships[12].author.display_name	Perrine Charles
authorships[12].countries	FR
authorships[12].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[12].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[12].institutions[0].id	https://openalex.org/I4210097159
authorships[12].institutions[0].ror	https://ror.org/00pg5jh14
authorships[12].institutions[0].type	healthcare
authorships[12].institutions[0].lineage	https://openalex.org/I4210097159
authorships[12].institutions[0].country_code	FR
authorships[12].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[12].institutions[1].id	https://openalex.org/I39804081
authorships[12].institutions[1].ror	https://ror.org/02en5vm52
authorships[12].institutions[1].type	education
authorships[12].institutions[1].lineage	https://openalex.org/I39804081
authorships[12].institutions[1].country_code	FR
authorships[12].institutions[1].display_name	Sorbonne Université
authorships[12].author_position	middle
authorships[12].raw_author_name	Perrine Charles
authorships[12].is_corresponding	False
authorships[12].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[13].author.id	https://openalex.org/A5033909318
authorships[13].author.orcid	https://orcid.org/0000-0003-4804-5147
authorships[13].author.display_name	Thomas Besnard
authorships[13].countries	FR
authorships[13].affiliations[0].institution_ids	https://openalex.org/I3019204325, https://openalex.org/I4210157800, https://openalex.org/I97188460
authorships[13].affiliations[0].raw_affiliation_string	Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
authorships[13].institutions[0].id	https://openalex.org/I3019204325
authorships[13].institutions[0].ror	https://ror.org/05c1qsg97
authorships[13].institutions[0].type	healthcare
authorships[13].institutions[0].lineage	https://openalex.org/I3019204325
authorships[13].institutions[0].country_code	FR
authorships[13].institutions[0].display_name	Centre Hospitalier Universitaire de Nantes
authorships[13].institutions[1].id	https://openalex.org/I4210157800
authorships[13].institutions[1].ror	https://ror.org/04fc8dp24
authorships[13].institutions[1].type	facility
authorships[13].institutions[1].lineage	https://openalex.org/I154526488, https://openalex.org/I21491767, https://openalex.org/I4210111578, https://openalex.org/I4210157800
authorships[13].institutions[1].country_code	FR
authorships[13].institutions[1].display_name	Génétique Médicale & Génomique Fonctionelle
authorships[13].institutions[2].id	https://openalex.org/I97188460
authorships[13].institutions[2].ror	https://ror.org/03gnr7b55
authorships[13].institutions[2].type	education
authorships[13].institutions[2].lineage	https://openalex.org/I97188460
authorships[13].institutions[2].country_code	FR
authorships[13].institutions[2].display_name	Nantes Université
authorships[13].author_position	middle
authorships[13].raw_author_name	Thomas Besnard
authorships[13].is_corresponding	False
authorships[13].raw_affiliation_strings	Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
authorships[14].author.id	https://openalex.org/A5068072022
authorships[14].author.orcid	https://orcid.org/0000-0002-7753-8226
authorships[14].author.display_name	Jean‐Madeleine de Sainte Agathe
authorships[14].countries	FR
authorships[14].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[14].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[14].institutions[0].id	https://openalex.org/I4210097159
authorships[14].institutions[0].ror	https://ror.org/00pg5jh14
authorships[14].institutions[0].type	healthcare
authorships[14].institutions[0].lineage	https://openalex.org/I4210097159
authorships[14].institutions[0].country_code	FR
authorships[14].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[14].institutions[1].id	https://openalex.org/I39804081
authorships[14].institutions[1].ror	https://ror.org/02en5vm52
authorships[14].institutions[1].type	education
authorships[14].institutions[1].lineage	https://openalex.org/I39804081
authorships[14].institutions[1].country_code	FR
authorships[14].institutions[1].display_name	Sorbonne Université
authorships[14].author_position	middle
authorships[14].raw_author_name	Jean-Madeleine de Sainte Agathe
authorships[14].is_corresponding	False
authorships[14].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[15].author.id	https://openalex.org/A5080290617
authorships[15].author.orcid	https://orcid.org/0009-0009-1344-080X
authorships[15].author.display_name	Edith P. Almanza Fuerte
authorships[15].countries	US
authorships[15].affiliations[0].institution_ids	https://openalex.org/I1313298211
authorships[15].affiliations[0].raw_affiliation_string	Center for Pediatric Neurological Disease Research, St. Jude Children s Research Hospital, Memphis, TN, USA
authorships[15].institutions[0].id	https://openalex.org/I1313298211
authorships[15].institutions[0].ror	https://ror.org/02r3e0967
authorships[15].institutions[0].type	healthcare
authorships[15].institutions[0].lineage	https://openalex.org/I1313298211, https://openalex.org/I2802152183
authorships[15].institutions[0].country_code	US
authorships[15].institutions[0].display_name	St. Jude Children's Research Hospital
authorships[15].author_position	middle
authorships[15].raw_author_name	Edith P. Almanza Fuerte
authorships[15].is_corresponding	False
authorships[15].raw_affiliation_strings	Center for Pediatric Neurological Disease Research, St. Jude Children s Research Hospital, Memphis, TN, USA
authorships[16].author.id	https://openalex.org/A5007758967
authorships[16].author.orcid	https://orcid.org/0000-0002-5013-1506
authorships[16].author.display_name	Soham Sengupta
authorships[16].countries	US
authorships[16].affiliations[0].institution_ids	https://openalex.org/I1313298211
authorships[16].affiliations[0].raw_affiliation_string	Center for Pediatric Neurological Disease Research, St. Jude Children s Research Hospital, Memphis, TN, USA
authorships[16].institutions[0].id	https://openalex.org/I1313298211
authorships[16].institutions[0].ror	https://ror.org/02r3e0967
authorships[16].institutions[0].type	healthcare
authorships[16].institutions[0].lineage	https://openalex.org/I1313298211, https://openalex.org/I2802152183
authorships[16].institutions[0].country_code	US
authorships[16].institutions[0].display_name	St. Jude Children's Research Hospital
authorships[16].author_position	middle
authorships[16].raw_author_name	Soham Sengupta
authorships[16].is_corresponding	False
authorships[16].raw_affiliation_strings	Center for Pediatric Neurological Disease Research, St. Jude Children s Research Hospital, Memphis, TN, USA
authorships[17].author.id	https://openalex.org/A5088903817
authorships[17].author.orcid	https://orcid.org/0000-0002-2454-8543
authorships[17].author.display_name	Mathieu Milh
authorships[17].countries	FR
authorships[17].affiliations[0].institution_ids	https://openalex.org/I4210087487
authorships[17].affiliations[0].raw_affiliation_string	Service de Neurologie Pediatrique, AP-HM, Marseille, France
authorships[17].institutions[0].id	https://openalex.org/I4210087487
authorships[17].institutions[0].ror	https://ror.org/002cp4060
authorships[17].institutions[0].type	healthcare
authorships[17].institutions[0].lineage	https://openalex.org/I4210087487
authorships[17].institutions[0].country_code	FR
authorships[17].institutions[0].display_name	Assistance Publique Hôpitaux de Marseille
authorships[17].author_position	middle
authorships[17].raw_author_name	Mathieu Milh
authorships[17].is_corresponding	False
authorships[17].raw_affiliation_strings	Service de Neurologie Pediatrique, AP-HM, Marseille, France
authorships[18].author.id	https://openalex.org/A5051571087
authorships[18].author.orcid	https://orcid.org/0000-0003-4540-8096
authorships[18].author.display_name	Francis Ramond
authorships[18].countries	FR
authorships[18].affiliations[0].institution_ids	https://openalex.org/I4210157006
authorships[18].affiliations[0].raw_affiliation_string	Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France
authorships[18].institutions[0].id	https://openalex.org/I4210157006
authorships[18].institutions[0].ror	https://ror.org/04pn6vp43
authorships[18].institutions[0].type	healthcare
authorships[18].institutions[0].lineage	https://openalex.org/I4210157006
authorships[18].institutions[0].country_code	FR
authorships[18].institutions[0].display_name	Centre Hospitalier Universitaire de Saint-Étienne
authorships[18].author_position	middle
authorships[18].raw_author_name	Francis Ramond
authorships[18].is_corresponding	False
authorships[18].raw_affiliation_strings	Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France
authorships[19].author.id	https://openalex.org/A5114244964
authorships[19].author.orcid
authorships[19].author.display_name	Talia Allan
authorships[19].countries	AU
authorships[19].affiliations[0].institution_ids	https://openalex.org/I165779595, https://openalex.org/I4210163497
authorships[19].affiliations[0].raw_affiliation_string	Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria , Australia
authorships[19].institutions[0].id	https://openalex.org/I4210163497
authorships[19].institutions[0].ror	https://ror.org/05dbj6g52
authorships[19].institutions[0].type	healthcare
authorships[19].institutions[0].lineage	https://openalex.org/I4210163497
authorships[19].institutions[0].country_code	AU
authorships[19].institutions[0].display_name	Austin Health
authorships[19].institutions[1].id	https://openalex.org/I165779595
authorships[19].institutions[1].ror	https://ror.org/01ej9dk98
authorships[19].institutions[1].type	education
authorships[19].institutions[1].lineage	https://openalex.org/I165779595
authorships[19].institutions[1].country_code	AU
authorships[19].institutions[1].display_name	The University of Melbourne
authorships[19].author_position	middle
authorships[19].raw_author_name	Talia Allan
authorships[19].is_corresponding	False
authorships[19].raw_affiliation_strings	Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria , Australia
authorships[20].author.id	https://openalex.org/A5110443389
authorships[20].author.orcid
authorships[20].author.display_name	Isabelle An
authorships[20].countries	FR
authorships[20].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[20].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France
authorships[20].institutions[0].id	https://openalex.org/I4210097159
authorships[20].institutions[0].ror	https://ror.org/00pg5jh14
authorships[20].institutions[0].type	healthcare
authorships[20].institutions[0].lineage	https://openalex.org/I4210097159
authorships[20].institutions[0].country_code	FR
authorships[20].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[20].institutions[1].id	https://openalex.org/I39804081
authorships[20].institutions[1].ror	https://ror.org/02en5vm52
authorships[20].institutions[1].type	education
authorships[20].institutions[1].lineage	https://openalex.org/I39804081
authorships[20].institutions[1].country_code	FR
authorships[20].institutions[1].display_name	Sorbonne Université
authorships[20].author_position	middle
authorships[20].raw_author_name	Isabelle An
authorships[20].is_corresponding	False
authorships[20].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France
authorships[21].author.id	https://openalex.org/A5026525987
authorships[21].author.orcid
authorships[21].author.display_name	Camila Araújo
authorships[21].countries	BR
authorships[21].affiliations[0].institution_ids	https://openalex.org/I17974374
authorships[21].affiliations[0].raw_affiliation_string	Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil
authorships[21].institutions[0].id	https://openalex.org/I17974374
authorships[21].institutions[0].ror	https://ror.org/036rp1748
authorships[21].institutions[0].type	education
authorships[21].institutions[0].lineage	https://openalex.org/I17974374
authorships[21].institutions[0].country_code	BR
authorships[21].institutions[0].display_name	Universidade de São Paulo
authorships[21].author_position	middle
authorships[21].raw_author_name	Camila Araujo
authorships[21].is_corresponding	False
authorships[21].raw_affiliation_strings	Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil
authorships[22].author.id	https://openalex.org/A5033048071
authorships[22].author.orcid
authorships[22].author.display_name	Stéphanie Arpin
authorships[22].countries	FR
authorships[22].affiliations[0].institution_ids	https://openalex.org/I4210095477
authorships[22].affiliations[0].raw_affiliation_string	Service de Génétique, CHU de Tours, Tours, France
authorships[22].institutions[0].id	https://openalex.org/I4210095477
authorships[22].institutions[0].ror	https://ror.org/00jpq0w62
authorships[22].institutions[0].type	healthcare
authorships[22].institutions[0].lineage	https://openalex.org/I4210095477
authorships[22].institutions[0].country_code	FR
authorships[22].institutions[0].display_name	Centre Hospitalier Universitaire de Tours
authorships[22].author_position	middle
authorships[22].raw_author_name	Stephanie Arpin
authorships[22].is_corresponding	False
authorships[22].raw_affiliation_strings	Service de Génétique, CHU de Tours, Tours, France
authorships[23].author.id	https://openalex.org/A5086656119
authorships[23].author.orcid	https://orcid.org/0000-0001-6492-6716
authorships[23].author.display_name	Christina Austin‐Tse
authorships[23].countries	US
authorships[23].affiliations[0].institution_ids	https://openalex.org/I107606265, https://openalex.org/I4210150380
authorships[23].affiliations[0].raw_affiliation_string	Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
authorships[23].institutions[0].id	https://openalex.org/I4210150380
authorships[23].institutions[0].ror	https://ror.org/04tbrah05
authorships[23].institutions[0].type	nonprofit
authorships[23].institutions[0].lineage	https://openalex.org/I4210150380
authorships[23].institutions[0].country_code	US
authorships[23].institutions[0].display_name	Broad Center
authorships[23].institutions[1].id	https://openalex.org/I107606265
authorships[23].institutions[1].ror	https://ror.org/05a0ya142
authorships[23].institutions[1].type	nonprofit
authorships[23].institutions[1].lineage	https://openalex.org/I107606265
authorships[23].institutions[1].country_code	US
authorships[23].institutions[1].display_name	Broad Institute
authorships[23].author_position	middle
authorships[23].raw_author_name	Christina Austin-Tse
authorships[23].is_corresponding	False
authorships[23].raw_affiliation_strings	Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
authorships[24].author.id	https://openalex.org/A5107916232
authorships[24].author.orcid
authorships[24].author.display_name	Stéphane Auvin
authorships[24].countries	FR
authorships[24].affiliations[0].institution_ids	https://openalex.org/I4210097159, https://openalex.org/I4210126712
authorships[24].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France
authorships[24].institutions[0].id	https://openalex.org/I4210097159
authorships[24].institutions[0].ror	https://ror.org/00pg5jh14
authorships[24].institutions[0].type	healthcare
authorships[24].institutions[0].lineage	https://openalex.org/I4210097159
authorships[24].institutions[0].country_code	FR
authorships[24].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[24].institutions[1].id	https://openalex.org/I4210126712
authorships[24].institutions[1].ror	https://ror.org/02dcqy320
authorships[24].institutions[1].type	healthcare
authorships[24].institutions[1].lineage	https://openalex.org/I4210097159, https://openalex.org/I4210126712
authorships[24].institutions[1].country_code	FR
authorships[24].institutions[1].display_name	Hôpital Robert-Debré
authorships[24].author_position	middle
authorships[24].raw_author_name	Stéphane Auvin
authorships[24].is_corresponding	False
authorships[24].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France
authorships[25].author.id	https://openalex.org/A5063873478
authorships[25].author.orcid	https://orcid.org/0000-0003-4951-2552
authorships[25].author.display_name	Sarah Baer
authorships[25].countries	FR
authorships[25].affiliations[0].institution_ids	https://openalex.org/I4210145324
authorships[25].affiliations[0].raw_affiliation_string	Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
authorships[25].institutions[0].id	https://openalex.org/I4210145324
authorships[25].institutions[0].ror	https://ror.org/04bckew43
authorships[25].institutions[0].type	healthcare
authorships[25].institutions[0].lineage	https://openalex.org/I4210145324
authorships[25].institutions[0].country_code	FR
authorships[25].institutions[0].display_name	Hôpitaux Universitaires de Strasbourg
authorships[25].author_position	middle
authorships[25].raw_author_name	Sarah Baer
authorships[25].is_corresponding	False
authorships[25].raw_affiliation_strings	Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
authorships[26].author.id	https://openalex.org/A5032147376
authorships[26].author.orcid	https://orcid.org/0000-0002-5352-0929
authorships[26].author.display_name	Nadia Bahi‐Buisson
authorships[26].countries	FR
authorships[26].affiliations[0].institution_ids	https://openalex.org/I154526488, https://openalex.org/I204730241
authorships[26].affiliations[0].raw_affiliation_string	Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France
authorships[26].institutions[0].id	https://openalex.org/I154526488
authorships[26].institutions[0].ror	https://ror.org/02vjkv261
authorships[26].institutions[0].type	government
authorships[26].institutions[0].lineage	https://openalex.org/I154526488
authorships[26].institutions[0].country_code	FR
authorships[26].institutions[0].display_name	Inserm
authorships[26].institutions[1].id	https://openalex.org/I204730241
authorships[26].institutions[1].ror	https://ror.org/05f82e368
authorships[26].institutions[1].type	education
authorships[26].institutions[1].lineage	https://openalex.org/I204730241
authorships[26].institutions[1].country_code	FR
authorships[26].institutions[1].display_name	Université Paris Cité
authorships[26].author_position	middle
authorships[26].raw_author_name	Nadia Bahi-Buisson
authorships[26].is_corresponding	False
authorships[26].raw_affiliation_strings	Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France
authorships[27].author.id	https://openalex.org/A5001819616
authorships[27].author.orcid	https://orcid.org/0000-0003-2762-1002
authorships[27].author.display_name	Mads Bak
authorships[27].countries	DK
authorships[27].affiliations[0].institution_ids	https://openalex.org/I2802567020, https://openalex.org/I2802709434
authorships[27].affiliations[0].raw_affiliation_string	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark
authorships[27].institutions[0].id	https://openalex.org/I2802567020
authorships[27].institutions[0].ror	https://ror.org/05bpbnx46
authorships[27].institutions[0].type	healthcare
authorships[27].institutions[0].lineage	https://openalex.org/I2802567020
authorships[27].institutions[0].country_code	DK
authorships[27].institutions[0].display_name	Copenhagen University Hospital
authorships[27].institutions[1].id	https://openalex.org/I2802709434
authorships[27].institutions[1].ror	https://ror.org/03mchdq19
authorships[27].institutions[1].type	healthcare
authorships[27].institutions[1].lineage	https://openalex.org/I2802567020, https://openalex.org/I2802709434, https://openalex.org/I4210145385
authorships[27].institutions[1].country_code	DK
authorships[27].institutions[1].display_name	Rigshospitalet
authorships[27].author_position	middle
authorships[27].raw_author_name	Mads Bak
authorships[27].is_corresponding	False
authorships[27].raw_affiliation_strings	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark
authorships[28].author.id	https://openalex.org/A5103496071
authorships[28].author.orcid	https://orcid.org/0000-0001-7240-7932
authorships[28].author.display_name	Magalie Barth
authorships[28].countries	FR
authorships[28].affiliations[0].institution_ids	https://openalex.org/I49451733
authorships[28].affiliations[0].raw_affiliation_string	Department of Medical Genetics, Angers University Hospital, Angers, France
authorships[28].institutions[0].id	https://openalex.org/I49451733
authorships[28].institutions[0].ror	https://ror.org/04yrqp957
authorships[28].institutions[0].type	education
authorships[28].institutions[0].lineage	https://openalex.org/I49451733
authorships[28].institutions[0].country_code	FR
authorships[28].institutions[0].display_name	Université d'Angers
authorships[28].author_position	middle
authorships[28].raw_author_name	Magalie Barth
authorships[28].is_corresponding	False
authorships[28].raw_affiliation_strings	Department of Medical Genetics, Angers University Hospital, Angers, France
authorships[29].author.id	https://openalex.org/A5070118171
authorships[29].author.orcid	https://orcid.org/0000-0001-6430-4693
authorships[29].author.display_name	Stéphanie Baulac
authorships[29].countries	FR
authorships[29].affiliations[0].institution_ids	https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I39804081, https://openalex.org/I4210097159, https://openalex.org/I4210121705, https://openalex.org/I4210152724
authorships[29].affiliations[0].raw_affiliation_string	Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
authorships[29].institutions[0].id	https://openalex.org/I4210097159
authorships[29].institutions[0].ror	https://ror.org/00pg5jh14
authorships[29].institutions[0].type	healthcare
authorships[29].institutions[0].lineage	https://openalex.org/I4210097159
authorships[29].institutions[0].country_code	FR
authorships[29].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[29].institutions[1].id	https://openalex.org/I1294671590
authorships[29].institutions[1].ror	https://ror.org/02feahw73
authorships[29].institutions[1].type	government
authorships[29].institutions[1].lineage	https://openalex.org/I1294671590
authorships[29].institutions[1].country_code	FR
authorships[29].institutions[1].display_name	Centre National de la Recherche Scientifique
authorships[29].institutions[2].id	https://openalex.org/I154526488
authorships[29].institutions[2].ror	https://ror.org/02vjkv261
authorships[29].institutions[2].type	government
authorships[29].institutions[2].lineage	https://openalex.org/I154526488
authorships[29].institutions[2].country_code	FR
authorships[29].institutions[2].display_name	Inserm
authorships[29].institutions[3].id	https://openalex.org/I4210152724
authorships[29].institutions[3].ror	https://ror.org/050gn5214
authorships[29].institutions[3].type	facility
authorships[29].institutions[3].lineage	https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I39804081, https://openalex.org/I4210096427, https://openalex.org/I4210152724
authorships[29].institutions[3].country_code	FR
authorships[29].institutions[3].display_name	Institut du Cerveau
authorships[29].institutions[4].id	https://openalex.org/I4210121705
authorships[29].institutions[4].ror	https://ror.org/02mh9a093
authorships[29].institutions[4].type	healthcare
authorships[29].institutions[4].lineage	https://openalex.org/I4210097159, https://openalex.org/I4210121705
authorships[29].institutions[4].country_code	FR
authorships[29].institutions[4].display_name	Pitié-Salpêtrière Hospital
authorships[29].institutions[5].id	https://openalex.org/I39804081
authorships[29].institutions[5].ror	https://ror.org/02en5vm52
authorships[29].institutions[5].type	education
authorships[29].institutions[5].lineage	https://openalex.org/I39804081
authorships[29].institutions[5].country_code	FR
authorships[29].institutions[5].display_name	Sorbonne Université
authorships[29].author_position	middle
authorships[29].raw_author_name	Stéphanie Baulac
authorships[29].is_corresponding	False
authorships[29].raw_affiliation_strings	Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
authorships[30].author.id	https://openalex.org/A5119535023
authorships[30].author.orcid
authorships[30].author.display_name	Nathalie Bednark Weirauch
authorships[30].countries	FR
authorships[30].affiliations[0].institution_ids	https://openalex.org/I4210105796, https://openalex.org/I96226040
authorships[30].affiliations[0].raw_affiliation_string	Service de Pédiatrie, CHU Reims, Reims, France
authorships[30].institutions[0].id	https://openalex.org/I4210105796
authorships[30].institutions[0].ror	https://ror.org/01jbb3w63
authorships[30].institutions[0].type	healthcare
authorships[30].institutions[0].lineage	https://openalex.org/I4210105796
authorships[30].institutions[0].country_code	FR
authorships[30].institutions[0].display_name	Centre Hospitalier Universitaire de Reims
authorships[30].institutions[1].id	https://openalex.org/I96226040
authorships[30].institutions[1].ror	https://ror.org/03hypw319
authorships[30].institutions[1].type	education
authorships[30].institutions[1].lineage	https://openalex.org/I96226040
authorships[30].institutions[1].country_code	FR
authorships[30].institutions[1].display_name	Université de Reims Champagne-Ardenne
authorships[30].author_position	middle
authorships[30].raw_author_name	Nathalie Bednark Weirauch
authorships[30].is_corresponding	False
authorships[30].raw_affiliation_strings	Service de Pédiatrie, CHU Reims, Reims, France
authorships[31].author.id	https://openalex.org/A5032705046
authorships[31].author.orcid	https://orcid.org/0000-0002-4659-8437
authorships[31].author.display_name	Matthias Begemann
authorships[31].countries	DE
authorships[31].affiliations[0].institution_ids	https://openalex.org/I4210120689, https://openalex.org/I887968799
authorships[31].affiliations[0].raw_affiliation_string	Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany
authorships[31].institutions[0].id	https://openalex.org/I887968799
authorships[31].institutions[0].ror	https://ror.org/04xfq0f34
authorships[31].institutions[0].type	education
authorships[31].institutions[0].lineage	https://openalex.org/I887968799
authorships[31].institutions[0].country_code	DE
authorships[31].institutions[0].display_name	RWTH Aachen University
authorships[31].institutions[1].id	https://openalex.org/I4210120689
authorships[31].institutions[1].ror	https://ror.org/02gm5zw39
authorships[31].institutions[1].type	healthcare
authorships[31].institutions[1].lineage	https://openalex.org/I4210120689
authorships[31].institutions[1].country_code	DE
authorships[31].institutions[1].display_name	Universitätsklinikum Aachen
authorships[31].author_position	middle
authorships[31].raw_author_name	Matthias Begemann
authorships[31].is_corresponding	False
authorships[31].raw_affiliation_strings	Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany
authorships[32].author.id	https://openalex.org/A5073067741
authorships[32].author.orcid	https://orcid.org/0000-0002-3561-6804
authorships[32].author.display_name	Mark F. Bennett
authorships[32].countries	AU
authorships[32].affiliations[0].institution_ids	https://openalex.org/I165779595, https://openalex.org/I4210163497
authorships[32].affiliations[0].raw_affiliation_string	Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria , Australia
authorships[32].institutions[0].id	https://openalex.org/I4210163497
authorships[32].institutions[0].ror	https://ror.org/05dbj6g52
authorships[32].institutions[0].type	healthcare
authorships[32].institutions[0].lineage	https://openalex.org/I4210163497
authorships[32].institutions[0].country_code	AU
authorships[32].institutions[0].display_name	Austin Health
authorships[32].institutions[1].id	https://openalex.org/I165779595
authorships[32].institutions[1].ror	https://ror.org/01ej9dk98
authorships[32].institutions[1].type	education
authorships[32].institutions[1].lineage	https://openalex.org/I165779595
authorships[32].institutions[1].country_code	AU
authorships[32].institutions[1].display_name	The University of Melbourne
authorships[32].author_position	middle
authorships[32].raw_author_name	Mark F. Bennett
authorships[32].is_corresponding	False
authorships[32].raw_affiliation_strings	Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria , Australia
authorships[33].author.id	https://openalex.org/A5119535024
authorships[33].author.orcid
authorships[33].author.display_name	Uriel Bensabath
authorships[33].countries	FR
authorships[33].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[33].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[33].institutions[0].id	https://openalex.org/I4210097159
authorships[33].institutions[0].ror	https://ror.org/00pg5jh14
authorships[33].institutions[0].type	healthcare
authorships[33].institutions[0].lineage	https://openalex.org/I4210097159
authorships[33].institutions[0].country_code	FR
authorships[33].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[33].institutions[1].id	https://openalex.org/I39804081
authorships[33].institutions[1].ror	https://ror.org/02en5vm52
authorships[33].institutions[1].type	education
authorships[33].institutions[1].lineage	https://openalex.org/I39804081
authorships[33].institutions[1].country_code	FR
authorships[33].institutions[1].display_name	Sorbonne Université
authorships[33].author_position	middle
authorships[33].raw_author_name	Uriel Bensabath
authorships[33].is_corresponding	False
authorships[33].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[34].author.id	https://openalex.org/A5105818839
authorships[34].author.orcid
authorships[34].author.display_name	Stéphane Bézieau
authorships[34].countries	FR
authorships[34].affiliations[0].institution_ids	https://openalex.org/I3019204325, https://openalex.org/I4210157800, https://openalex.org/I97188460
authorships[34].affiliations[0].raw_affiliation_string	Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
authorships[34].institutions[0].id	https://openalex.org/I3019204325
authorships[34].institutions[0].ror	https://ror.org/05c1qsg97
authorships[34].institutions[0].type	healthcare
authorships[34].institutions[0].lineage	https://openalex.org/I3019204325
authorships[34].institutions[0].country_code	FR
authorships[34].institutions[0].display_name	Centre Hospitalier Universitaire de Nantes
authorships[34].institutions[1].id	https://openalex.org/I4210157800
authorships[34].institutions[1].ror	https://ror.org/04fc8dp24
authorships[34].institutions[1].type	facility
authorships[34].institutions[1].lineage	https://openalex.org/I154526488, https://openalex.org/I21491767, https://openalex.org/I4210111578, https://openalex.org/I4210157800
authorships[34].institutions[1].country_code	FR
authorships[34].institutions[1].display_name	Génétique Médicale & Génomique Fonctionelle
authorships[34].institutions[2].id	https://openalex.org/I97188460
authorships[34].institutions[2].ror	https://ror.org/03gnr7b55
authorships[34].institutions[2].type	education
authorships[34].institutions[2].lineage	https://openalex.org/I97188460
authorships[34].institutions[2].country_code	FR
authorships[34].institutions[2].display_name	Nantes Université
authorships[34].author_position	middle
authorships[34].raw_author_name	Stéphane Bézieau
authorships[34].is_corresponding	False
authorships[34].raw_affiliation_strings	Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
authorships[35].author.id	https://openalex.org/A5065882119
authorships[35].author.orcid
authorships[35].author.display_name	Rakia Bhouri
authorships[35].countries	FR
authorships[35].affiliations[0].institution_ids	https://openalex.org/I4210159273
authorships[35].affiliations[0].raw_affiliation_string	Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France
authorships[35].institutions[0].id	https://openalex.org/I4210159273
authorships[35].institutions[0].ror	https://ror.org/04n1nkp35
authorships[35].institutions[0].type	healthcare
authorships[35].institutions[0].lineage	https://openalex.org/I4210159273
authorships[35].institutions[0].country_code	FR
authorships[35].institutions[0].display_name	Hôpital Intercommunal de Créteil
authorships[35].author_position	middle
authorships[35].raw_author_name	Rakia Bhouri
authorships[35].is_corresponding	False
authorships[35].raw_affiliation_strings	Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France
authorships[36].author.id	https://openalex.org/A5087171698
authorships[36].author.orcid
authorships[36].author.display_name	Margaux Biehler
authorships[36].countries	FR
authorships[36].affiliations[0].institution_ids	https://openalex.org/I4210145324, https://openalex.org/I4210163538
authorships[36].affiliations[0].raw_affiliation_string	Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
authorships[36].institutions[0].id	https://openalex.org/I4210163538
authorships[36].institutions[0].ror	https://ror.org/05fkq4848
authorships[36].institutions[0].type	healthcare
authorships[36].institutions[0].lineage	https://openalex.org/I4210145324, https://openalex.org/I4210163538
authorships[36].institutions[0].country_code	FR
authorships[36].institutions[0].display_name	Hôpital Civil, Strasbourg
authorships[36].institutions[1].id	https://openalex.org/I4210145324
authorships[36].institutions[1].ror	https://ror.org/04bckew43
authorships[36].institutions[1].type	healthcare
authorships[36].institutions[1].lineage	https://openalex.org/I4210145324
authorships[36].institutions[1].country_code	FR
authorships[36].institutions[1].display_name	Hôpitaux Universitaires de Strasbourg
authorships[36].author_position	middle
authorships[36].raw_author_name	Margaux Biehler
authorships[36].is_corresponding	False
authorships[36].raw_affiliation_strings	Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
authorships[37].author.id	https://openalex.org/A5005400962
authorships[37].author.orcid	https://orcid.org/0000-0001-8935-5761
authorships[37].author.display_name	Trine Bjørg Hammer
authorships[37].countries	DK
authorships[37].affiliations[0].institution_ids	https://openalex.org/I2802567020, https://openalex.org/I2802709434
authorships[37].affiliations[0].raw_affiliation_string	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark
authorships[37].institutions[0].id	https://openalex.org/I2802567020
authorships[37].institutions[0].ror	https://ror.org/05bpbnx46
authorships[37].institutions[0].type	healthcare
authorships[37].institutions[0].lineage	https://openalex.org/I2802567020
authorships[37].institutions[0].country_code	DK
authorships[37].institutions[0].display_name	Copenhagen University Hospital
authorships[37].institutions[1].id	https://openalex.org/I2802709434
authorships[37].institutions[1].ror	https://ror.org/03mchdq19
authorships[37].institutions[1].type	healthcare
authorships[37].institutions[1].lineage	https://openalex.org/I2802567020, https://openalex.org/I2802709434, https://openalex.org/I4210145385
authorships[37].institutions[1].country_code	DK
authorships[37].institutions[1].display_name	Rigshospitalet
authorships[37].author_position	middle
authorships[37].raw_author_name	Trine Bjørg Hammer
authorships[37].is_corresponding	False
authorships[37].raw_affiliation_strings	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark
authorships[38].author.id	https://openalex.org/A5066798905
authorships[38].author.orcid
authorships[38].author.display_name	Julie Bogoin
authorships[38].countries	FR
authorships[38].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[38].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[38].institutions[0].id	https://openalex.org/I4210097159
authorships[38].institutions[0].ror	https://ror.org/00pg5jh14
authorships[38].institutions[0].type	healthcare
authorships[38].institutions[0].lineage	https://openalex.org/I4210097159
authorships[38].institutions[0].country_code	FR
authorships[38].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[38].institutions[1].id	https://openalex.org/I39804081
authorships[38].institutions[1].ror	https://ror.org/02en5vm52
authorships[38].institutions[1].type	education
authorships[38].institutions[1].lineage	https://openalex.org/I39804081
authorships[38].institutions[1].country_code	FR
authorships[38].institutions[1].display_name	Sorbonne Université
authorships[38].author_position	middle
authorships[38].raw_author_name	Julie Bogoin
authorships[38].is_corresponding	False
authorships[38].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[39].author.id	https://openalex.org/A5014812082
authorships[39].author.orcid	https://orcid.org/0000-0002-0222-0141
authorships[39].author.display_name	Elena Bonanno
authorships[39].countries	FR
authorships[39].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[39].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[39].institutions[0].id	https://openalex.org/I4210097159
authorships[39].institutions[0].ror	https://ror.org/00pg5jh14
authorships[39].institutions[0].type	healthcare
authorships[39].institutions[0].lineage	https://openalex.org/I4210097159
authorships[39].institutions[0].country_code	FR
authorships[39].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[39].institutions[1].id	https://openalex.org/I39804081
authorships[39].institutions[1].ror	https://ror.org/02en5vm52
authorships[39].institutions[1].type	education
authorships[39].institutions[1].lineage	https://openalex.org/I39804081
authorships[39].institutions[1].country_code	FR
authorships[39].institutions[1].display_name	Sorbonne Université
authorships[39].author_position	middle
authorships[39].raw_author_name	Emilie Bonanno
authorships[39].is_corresponding	False
authorships[39].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[40].author.id	https://openalex.org/A5068672224
authorships[40].author.orcid
authorships[40].author.display_name	Simon Boussion
authorships[40].countries	FR
authorships[40].affiliations[0].institution_ids	https://openalex.org/I2279609970, https://openalex.org/I3018718406
authorships[40].affiliations[0].raw_affiliation_string	Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France
authorships[40].institutions[0].id	https://openalex.org/I3018718406
authorships[40].institutions[0].ror	https://ror.org/02ppyfa04
authorships[40].institutions[0].type	healthcare
authorships[40].institutions[0].lineage	https://openalex.org/I3018718406
authorships[40].institutions[0].country_code	FR
authorships[40].institutions[0].display_name	Centre Hospitalier Universitaire de Lille
authorships[40].institutions[1].id	https://openalex.org/I2279609970
authorships[40].institutions[1].ror	https://ror.org/02kzqn938
authorships[40].institutions[1].type	education
authorships[40].institutions[1].lineage	https://openalex.org/I2279609970
authorships[40].institutions[1].country_code	FR
authorships[40].institutions[1].display_name	Université de Lille
authorships[40].author_position	middle
authorships[40].raw_author_name	Simon Boussion
authorships[40].is_corresponding	False
authorships[40].raw_affiliation_strings	Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France
authorships[41].author.id	https://openalex.org/A5112876753
authorships[41].author.orcid
authorships[41].author.display_name	Nuria C. Bramswig
authorships[41].countries	DE
authorships[41].affiliations[0].institution_ids	https://openalex.org/I4210103666
authorships[41].affiliations[0].raw_affiliation_string	Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany
authorships[41].institutions[0].id	https://openalex.org/I4210103666
authorships[41].institutions[0].ror	https://ror.org/01856cw59
authorships[41].institutions[0].type	healthcare
authorships[41].institutions[0].lineage	https://openalex.org/I4210103666
authorships[41].institutions[0].country_code	DE
authorships[41].institutions[0].display_name	University Hospital Münster
authorships[41].author_position	middle
authorships[41].raw_author_name	Nuria C. Bramswig
authorships[41].is_corresponding	False
authorships[41].raw_affiliation_strings	Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany
authorships[42].author.id	https://openalex.org/A5069138611
authorships[42].author.orcid	https://orcid.org/0000-0003-2425-4446
authorships[42].author.display_name	Céline Bris
authorships[42].countries	FR
authorships[42].affiliations[0].institution_ids	https://openalex.org/I49451733
authorships[42].affiliations[0].raw_affiliation_string	Department of Medical Genetics, Angers University Hospital, Angers, France
authorships[42].institutions[0].id	https://openalex.org/I49451733
authorships[42].institutions[0].ror	https://ror.org/04yrqp957
authorships[42].institutions[0].type	education
authorships[42].institutions[0].lineage	https://openalex.org/I49451733
authorships[42].institutions[0].country_code	FR
authorships[42].institutions[0].display_name	Université d'Angers
authorships[42].author_position	middle
authorships[42].raw_author_name	Céline Bris
authorships[42].is_corresponding	False
authorships[42].raw_affiliation_strings	Department of Medical Genetics, Angers University Hospital, Angers, France
authorships[43].author.id	https://openalex.org/A5119535025
authorships[43].author.orcid
authorships[43].author.display_name	Adelaide Brosseau-Beauvir
authorships[43].countries	FR
authorships[43].affiliations[0].institution_ids	https://openalex.org/I4210132604
authorships[43].affiliations[0].raw_affiliation_string	Center for Intellectual Disability Reference, Brest University Hospital, Brest, France
authorships[43].institutions[0].id	https://openalex.org/I4210132604
authorships[43].institutions[0].ror	https://ror.org/03evbwn87
authorships[43].institutions[0].type	healthcare
authorships[43].institutions[0].lineage	https://openalex.org/I154526488, https://openalex.org/I4210105774, https://openalex.org/I4210132604, https://openalex.org/I4210161065
authorships[43].institutions[0].country_code	FR
authorships[43].institutions[0].display_name	Centre Hospitalier Régional Universitaire de Brest
authorships[43].author_position	middle
authorships[43].raw_author_name	Adelaide Brosseau-Beauvir
authorships[43].is_corresponding	False
authorships[43].raw_affiliation_strings	Center for Intellectual Disability Reference, Brest University Hospital, Brest, France
authorships[44].author.id	https://openalex.org/A5112519181
authorships[44].author.orcid
authorships[44].author.display_name	Ange-Line Bruel
authorships[44].countries	FR
authorships[44].affiliations[0].institution_ids	https://openalex.org/I177064439
authorships[44].affiliations[0].raw_affiliation_string	Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR12 équipe GAD, Dijon, F
authorships[44].institutions[0].id	https://openalex.org/I177064439
authorships[44].institutions[0].ror	https://ror.org/03k1bsr36
authorships[44].institutions[0].type	education
authorships[44].institutions[0].lineage	https://openalex.org/I177064439
authorships[44].institutions[0].country_code	FR
authorships[44].institutions[0].display_name	Université de Bourgogne
authorships[44].author_position	middle
authorships[44].raw_author_name	Ange-Line Bruel
authorships[44].is_corresponding	False
authorships[44].raw_affiliation_strings	Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR12 équipe GAD, Dijon, F
authorships[45].author.id	https://openalex.org/A5021236267
authorships[45].author.orcid	https://orcid.org/0000-0002-0901-0905
authorships[45].author.display_name	Julien Buratti
authorships[45].countries	FR
authorships[45].affiliations[0].institution_ids	https://openalex.org/I39804081, https://openalex.org/I4210097159
authorships[45].affiliations[0].raw_affiliation_string	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[45].institutions[0].id	https://openalex.org/I4210097159
authorships[45].institutions[0].ror	https://ror.org/00pg5jh14
authorships[45].institutions[0].type	healthcare
authorships[45].institutions[0].lineage	https://openalex.org/I4210097159
authorships[45].institutions[0].country_code	FR
authorships[45].institutions[0].display_name	Assistance Publique – Hôpitaux de Paris
authorships[45].institutions[1].id	https://openalex.org/I39804081
authorships[45].institutions[1].ror	https://ror.org/02en5vm52
authorships[45].institutions[1].type	education
authorships[45].institutions[1].lineage	https://openalex.org/I39804081
authorships[45].institutions[1].country_code	FR
authorships[45].institutions[1].display_name	Sorbonne Université
authorships[45].author_position	middle
authorships[45].raw_author_name	Julien Buratti
authorships[45].is_corresponding	False
authorships[45].raw_affiliation_strings	Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
authorships[46].author.id	https://openalex.org/A5070869585
authorships[46].author.orcid	https://orcid.org/0000-0002-9040-3051
authorships[46].author.display_name	Pascal Chambon
authorships[46].countries	FR
authorships[46].affiliations[0].institution_ids	https://openalex.org/I154526488, https://openalex.org/I4210105918, https://openalex.org/I62396329
authorships[46].affiliations[0].raw_affiliation_string	Univ Rouen Normandie, Normandie Univ, Inserm U145 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France
authorships[46].institutions[0].id	https://openalex.org/I154526488
authorships[46].institutions[0].ror	https://ror.org/02vjkv261
authorships[46].institutions[0].type	government
authorships[46].institutions[0].lineage	https://openalex.org/I154526488
authorships[46].institutions[0].country_code	FR
authorships[46].institutions[0].display_name	Inserm
authorships[46].institutions[1].id	https://openalex.org/I4210105918
authorships[46].institutions[1].ror	https://ror.org/01k40cz91
authorships[46].institutions[1].type	education
authorships[46].institutions[1].lineage	https://openalex.org/I4210105918
authorships[46].institutions[1].country_code	FR
authorships[46].institutions[1].display_name	Normandie Université
authorships[46].institutions[2].id	https://openalex.org/I62396329
authorships[46].institutions[2].ror	https://ror.org/03nhjew95
authorships[46].institutions[2].type	education
authorships[46].institutions[2].lineage	https://openalex.org/I4210105918, https://openalex.org/I62396329
authorships[46].institutions[2].country_code	FR
authorships[46].institutions[2].display_name	Université de Rouen Normandie
authorships[46].author_position	middle
authorships[46].raw_author_name	Pascal Chambon
authorships[46].is_corresponding	False
authorships[46].raw_affiliation_strings	Univ Rouen Normandie, Normandie Univ, Inserm U145 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France
authorships[47].author.id	https://openalex.org/A5000225236
authorships[47].author.orcid	https://orcid.org/0000-0002-2333-9408
authorships[47].author.display_name	Nicole Chémaly
authorships[47].countries	FR
authorships[47].affiliations[0].institution_ids	https://openalex.org/I154526488, https://openalex.org/I204730241
authorships[47].affiliations[0].raw_affiliation_string	Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France
authorships[47].institutions[0].id	https://openalex.org/I154526488
authorships[47].institutions[0].ror	https://ror.org/02vjkv261
authorships[47].institutions[0].type	government
authorships[47].institutions[0].lineage	https://openalex.org/I154526488
authorships[47].institutions[0].country_code	FR
authorships[47].institutions[0].display_name	Inserm
authorships[47].institutions[1].id	https://openalex.org/I204730241
authorships[47].institutions[1].ror	https://ror.org/05f82e368
authorships[47].institutions[1].type	education
authorships[47].institutions[1].lineage	https://openalex.org/I204730241
authorships[47].institutions[1].country_code	FR
authorships[47].institutions[1].display_name	Université Paris Cité
authorships[47].author_position	middle
authorships[47].raw_author_name	Nicole Chemaly
authorships[47].is_corresponding	False
authorships[47].raw_affiliation_strings	Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France
authorships[48].author.id	https://openalex.org/A5027210662
authorships[48].author.orcid	https://orcid.org/0000-0001-9729-7346
authorships[48].author.display_name	Bertrand Chesneau
authorships[48].countries	FR
authorships[48].affiliations[0].institution_ids	https://openalex.org/I4210138343
authorships[48].affiliations[0].raw_affiliation_string	Service de Génétique médicale, CHU Purpan, Toulouse, France
authorships[48].institutions[0].id	https://openalex.org/I4210138343
authorships[48].institutions[0].ror	https://ror.org/03vcx3f97
authorships[48].institutions[0].type	healthcare
authorships[48].institutions[0].lineage	https://openalex.org/I3019448017, https://openalex.org/I4210138343
authorships[48].institutions[0].country_code	FR
authorships[48].institutions[0].display_name	Hôpital Purpan
authorships[48].author_position	middle
authorships[48].raw_author_name	Bertrand Chesneau
authorships[48].is_corresponding	False
authorships[48].raw_affiliation_strings	Service de Génétique médicale, CHU Purpan, Toulouse, France
authorships[49].author.id	https://openalex.org/A5030708711
authorships[49].author.orcid	https://orcid.org/0000-0001-7913-3938
authorships[49].author.display_name	Estelle Colin
authorships[49].countries	FR
authorships[49].affiliations[0].institution_ids	https://openalex.org/I49451733
authorships[49].affiliations[0].raw_affiliation_string	Department of Medical Genetics, Angers University Hospital, Angers, France
authorships[49].institutions[0].id	https://openalex.org/I49451733
authorships[49].institutions[0].ror	https://ror.org/04yrqp957
authorships[49].institutions[0].type	education
authorships[49].institutions[0].lineage	https://openalex.org/I49451733
authorships[49].institutions[0].country_code	FR
authorships[49].institutions[0].display_name	Université d'Angers
authorships[49].author_position	middle
authorships[49].raw_author_name	Estelle Colin
authorships[49].is_corresponding	False
authorships[49].raw_affiliation_strings	Department of Medical Genetics, Angers University Hospital, Angers, France
has_content.pdf	True
has_content.grobid_xml	True
is_paratext	False
open_access.is_oa	True
open_access.oa_url	https://www.medrxiv.org/content/medrxiv/early/2025/09/04/2025.09.02.25334923.full.pdf
open_access.oa_status	green
open_access.any_repository_has_fulltext	False
created_date	2025-10-10T00:00:00
display_name	Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
has_fulltext	False
is_retracted	False
updated_date	2025-11-06T03:46:38.306776
primary_topic.id	https://openalex.org/T10604
primary_topic.field.id	https://openalex.org/fields/13
primary_topic.field.display_name	Biochemistry, Genetics and Molecular Biology
primary_topic.score	0.9998999834060669
primary_topic.domain.id	https://openalex.org/domains/1
primary_topic.domain.display_name	Life Sciences
primary_topic.subfield.id	https://openalex.org/subfields/1312
primary_topic.subfield.display_name	Molecular Biology
primary_topic.display_name	RNA Research and Splicing
related_works	https://openalex.org/W2069332834, https://openalex.org/W2157343576, https://openalex.org/W2284602184, https://openalex.org/W1968223204, https://openalex.org/W2143723159, https://openalex.org/W2971664336, https://openalex.org/W2003213264, https://openalex.org/W1947290886, https://openalex.org/W2004746002, https://openalex.org/W2136893558
cited_by_count	0
locations_count	2
best_oa_location.id	doi:10.1101/2025.09.02.25334923
best_oa_location.is_oa	True
best_oa_location.source.id	https://openalex.org/S4306402567
best_oa_location.source.issn
best_oa_location.source.type	repository
best_oa_location.source.is_oa	False
best_oa_location.source.issn_l
best_oa_location.source.is_core	False
best_oa_location.source.is_in_doaj	False
best_oa_location.source.display_name	bioRxiv (Cold Spring Harbor Laboratory)
best_oa_location.source.host_organization	https://openalex.org/I2750212522
best_oa_location.source.host_organization_name	Cold Spring Harbor Laboratory
best_oa_location.source.host_organization_lineage	https://openalex.org/I2750212522
best_oa_location.license	cc-by-nc
best_oa_location.pdf_url	https://www.medrxiv.org/content/medrxiv/early/2025/09/04/2025.09.02.25334923.full.pdf
best_oa_location.version	acceptedVersion
best_oa_location.raw_type	posted-content
best_oa_location.license_id	https://openalex.org/licenses/cc-by-nc
best_oa_location.is_accepted	True
best_oa_location.is_published	False
best_oa_location.raw_source_name
best_oa_location.landing_page_url	https://doi.org/10.1101/2025.09.02.25334923
primary_location.id	doi:10.1101/2025.09.02.25334923
primary_location.is_oa	True
primary_location.source.id	https://openalex.org/S4306402567
primary_location.source.issn
primary_location.source.type	repository
primary_location.source.is_oa	False
primary_location.source.issn_l
primary_location.source.is_core	False
primary_location.source.is_in_doaj	False
primary_location.source.display_name	bioRxiv (Cold Spring Harbor Laboratory)
primary_location.source.host_organization	https://openalex.org/I2750212522
primary_location.source.host_organization_name	Cold Spring Harbor Laboratory
primary_location.source.host_organization_lineage	https://openalex.org/I2750212522
primary_location.license	cc-by-nc
primary_location.pdf_url	https://www.medrxiv.org/content/medrxiv/early/2025/09/04/2025.09.02.25334923.full.pdf
primary_location.version	acceptedVersion
primary_location.raw_type	posted-content
primary_location.license_id	https://openalex.org/licenses/cc-by-nc
primary_location.is_accepted	True
primary_location.is_published	False
primary_location.raw_source_name
primary_location.landing_page_url	https://doi.org/10.1101/2025.09.02.25334923
publication_date	2025-09-04
publication_year	2025
referenced_works	https://openalex.org/W2992033677, https://openalex.org/W2939469771, https://openalex.org/W1544956655, https://openalex.org/W1776893913, https://openalex.org/W2253196423, https://openalex.org/W2017049760, https://openalex.org/W2090105807, https://openalex.org/W2098052980, https://openalex.org/W1929075796, https://openalex.org/W2780802327, https://openalex.org/W2552561945, https://openalex.org/W3164721733, https://openalex.org/W4400531604, https://openalex.org/W4399209063, https://openalex.org/W4410867328, https://openalex.org/W4409371871, https://openalex.org/W4409340242, https://openalex.org/W4220810507, https://openalex.org/W4389175118, https://openalex.org/W3045910546, https://openalex.org/W2259938310, https://openalex.org/W2073928054, https://openalex.org/W2168602920, https://openalex.org/W2101087555, https://openalex.org/W2060785264, https://openalex.org/W48446126, https://openalex.org/W2164448313, https://openalex.org/W150114986, https://openalex.org/W3214776680, https://openalex.org/W2612552788, https://openalex.org/W4390706779, https://openalex.org/W2123695081, https://openalex.org/W2471383896, https://openalex.org/W2047766036, https://openalex.org/W2257200896, https://openalex.org/W2109745480, https://openalex.org/W2012186666, https://openalex.org/W3031360434, https://openalex.org/W2096575861, https://openalex.org/W4237655687, https://openalex.org/W2846099848, https://openalex.org/W2155322043, https://openalex.org/W3189626768, https://openalex.org/W2169502075, https://openalex.org/W4256563997, https://openalex.org/W4406026255, https://openalex.org/W4403781665, https://openalex.org/W2231865019, https://openalex.org/W2156564520, https://openalex.org/W4388615740, https://openalex.org/W2982084458, https://openalex.org/W4285796131, https://openalex.org/W3105801940, https://openalex.org/W2113606273
referenced_works_count	54
abstract_inverted_index.,	13
abstract_inverted_index.a	26, 47, 105, 151, 155, 166
abstract_inverted_index.We	60
abstract_inverted_index.an	112
abstract_inverted_index.as	90, 92, 165, 172, 174
abstract_inverted_index.at	87
abstract_inverted_index.by	97
abstract_inverted_index.de	62, 106
abstract_inverted_index.in	2, 34, 46, 67, 76, 109
abstract_inverted_index.is	86
abstract_inverted_index.of	119, 169
abstract_inverted_index.on	144
abstract_inverted_index.to	20
abstract_inverted_index.we	38
abstract_inverted_index.108	80
abstract_inverted_index.126	77
abstract_inverted_index.200	41
abstract_inverted_index.DNA	137
abstract_inverted_index.NDD	85, 95
abstract_inverted_index.Our	148
abstract_inverted_index.RNA	6
abstract_inverted_index.and	14, 56, 64, 73, 99, 101, 123, 136, 146, 154, 159
abstract_inverted_index.for	31
abstract_inverted_index.the	93, 116
abstract_inverted_index.NDDs	75
abstract_inverted_index.ReNU	175
abstract_inverted_index.been	18
abstract_inverted_index.both	71
abstract_inverted_index.from	79, 104
abstract_inverted_index.have	16
abstract_inverted_index.high	117
abstract_inverted_index.novo	63, 107
abstract_inverted_index.rare	54
abstract_inverted_index.role	30
abstract_inverted_index.with	53, 70, 111, 131
abstract_inverted_index.(ReNU	10
abstract_inverted_index.-NDDs	126
abstract_inverted_index.Blood	134
abstract_inverted_index.Here,	37
abstract_inverted_index.NDDs,	170
abstract_inverted_index.cause	168
abstract_inverted_index.genes	8, 45
abstract_inverted_index.human	35
abstract_inverted_index.least	88
abstract_inverted_index.model	153
abstract_inverted_index.often	102
abstract_inverted_index.share	127
abstract_inverted_index.small	4
abstract_inverted_index.snRNA	44, 120
abstract_inverted_index.trans	110
abstract_inverted_index.twice	89
abstract_inverted_index.26,911	51
abstract_inverted_index.French	48
abstract_inverted_index.RNU2-2	15, 68, 84, 125, 163
abstract_inverted_index.RNU4-2	9
abstract_inverted_index.arises	103
abstract_inverted_index.caused	96
abstract_inverted_index.cohort	49
abstract_inverted_index.genes.	121
abstract_inverted_index.linked	19
abstract_inverted_index.major,	27
abstract_inverted_index.nearly	171
abstract_inverted_index.snRNAs	33
abstract_inverted_index.(NDDs),	24
abstract_inverted_index.(snRNA)	7
abstract_inverted_index.RNU5B-1	12
abstract_inverted_index.allele,	114
abstract_inverted_index.between	157
abstract_inverted_index.effects	143
abstract_inverted_index.nuclear	5
abstract_inverted_index.subtle,	141
abstract_inverted_index.support	150
abstract_inverted_index.through	57
abstract_inverted_index.variant	108
abstract_inverted_index.Abstract	0
abstract_inverted_index.Dominant	122
abstract_inverted_index.Variants	1
abstract_inverted_index.analysed	40
abstract_inverted_index.analyses	139
abstract_inverted_index.clinical	129
abstract_inverted_index.disease.	36
abstract_inverted_index.dominant	21, 72, 94, 158
abstract_inverted_index.features	130
abstract_inverted_index.findings	149
abstract_inverted_index.frequent	91, 132, 167
abstract_inverted_index.identify	61
abstract_inverted_index.recently	17
abstract_inverted_index.revealed	140
abstract_inverted_index.splicing	145
abstract_inverted_index.variants	66, 164
abstract_inverted_index.Recessive	83
abstract_inverted_index.biallelic	65
abstract_inverted_index.continuum	156
abstract_inverted_index.disorders	23, 55
abstract_inverted_index.epilepsy.	133
abstract_inverted_index.families.	82
abstract_inverted_index.inherited	113
abstract_inverted_index.n.4G>A	98
abstract_inverted_index.noncoding	32
abstract_inverted_index.prevalent	173
abstract_inverted_index.recessive	74, 124, 160
abstract_inverted_index.revealing	25
abstract_inverted_index.syndrome.	176
abstract_inverted_index.unrelated	81
abstract_inverted_index.associated	69
abstract_inverted_index.comprising	50
abstract_inverted_index.functional	43
abstract_inverted_index.mutability	118
abstract_inverted_index.overlooked	29
abstract_inverted_index.previously	28
abstract_inverted_index.reflecting	115
abstract_inverted_index.syndrome),	11
abstract_inverted_index.individuals	52, 78
abstract_inverted_index.methylation	138
abstract_inverted_index.n.35A>G,	100
abstract_inverted_index.overlapping	128
abstract_inverted_index.potentially	42
abstract_inverted_index.establishing	162
abstract_inverted_index.inheritance,	161
abstract_inverted_index.spliceosomal	3
abstract_inverted_index.international	58
abstract_inverted_index.episignatures.	147
abstract_inverted_index.systematically	39
abstract_inverted_index.collaborations.	59
abstract_inverted_index.transcriptomics	135
abstract_inverted_index.variant-specific	142
abstract_inverted_index.gradient-of-impact	152
abstract_inverted_index.neurodevelopmental	22
cited_by_percentile_year
corresponding_author_ids	https://openalex.org/A5034171757
countries_distinct_count	12
institutions_distinct_count	206
corresponding_institution_ids	https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I39804081, https://openalex.org/I4210097159, https://openalex.org/I4210121705, https://openalex.org/I4210152724
citation_normalized_percentile.value	0.38810282
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False