Evidence map›Paper›PMID 39990802›Full record

ArticleArXiv2025

Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan and 105 more

Abstract readPreprint
In one paragraph

Article in ArXiv, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

115 authors.

Laura CifDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.ORCID 0000-0002-3188-3788
Diane DemaillyDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Jean-Pierre LinComplex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Katy E BarwickMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Mario SaComplex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Lucia AbelaMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Sony MalhotraInstitute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.
Wui K ChongDevelopmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.
Dora SteelMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Alba Sanchis-JuanNIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Adeline NgohMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Natalie TrumpMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Esther MeyerMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Xavier VasquesEuropean IBM Systems Center, Montpellier, France.
Julia RankinClinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Meredith W AllainDivision of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.
Carolyn D ApplegateMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sanaz Attaripour IsfahaniHuman Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Julien BaleineUnité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.
Bettina BalintDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Jennifer A BassettiDivision of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.
Emma L BapleClinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Kailash P BhatiaDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Catherine BlanchetDépartement d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.
Lydie BurglenDépartement de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.
Gilles CambonieUnité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.
Emilie Chan SengDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Sandra Chantot BastaraudUnité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.
Fabienne CyprienDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Christine CoubesDépartement de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.
Vincent d'HardemareUnité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.
Deciphering Developmental Disorders Study
Asif DojaDivision of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Nathalie DorisonUnité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.
Diane DoummarNeuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.
Marisela E Dy-HollinsDepartment of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Ellyn FarrellyDivision of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.
David R FitzpatrickHuman Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.
Conor FearonDepartment of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
Elizabeth L FiegDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Brent L FogelDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Eva B FormanDepartment of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
Rachel G FoxDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.ORCID 0000-0001-6265-2256
Genomics England Research Consortium
William A GahlUndiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Serena GalosiDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Victoria GonzalezDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Tracey D GravesDepartment of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.
Allison GregoryDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
Mark HallettHuman Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Harutomo HasegawaComplex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Susan J HayflickDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
Ada HamoshMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Marie HullyDépartement de Neurologie, APHP-Necker-Enfants Malades, Paris, France.
Sandra JansenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Suh Young JeongDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
Joel B KrierDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Sidney KrystalDépartement de Neuroradiologie, Hôpital Fondation Rothschild, Paris.ORCID 0000-0002-3357-8509
Kishore R KumarTranslational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.ORCID 0000-0003-3482-6962
Chloé LaurencinDépartement de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
Hane LeeDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Gaetan LescaDépartement de Génétique, Hôpital Universitaire de Lyon, Lyon, France.
Laurence Lion FrançoisDépartement de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.
Timothy LynchDepartment of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
Neil MahantMovement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.
Julian A Martinez-AgostoDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Christophe MilesiUnité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.
Kelly A MillsDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Michel MondainDépartement d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.
Hugo Morales-BricenoMovement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.
NIHR BioResource
John R OstergaardCentre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Swasti PalInstitute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.
Juan C PallaisDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Frédérique PavillardDépartement d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Pierre-Francois PerrigaultDépartement d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Andrea K PetersenRandall Children's Hospital, Portland, OR, USA.
Gustavo PoloDépartement de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.
Gaetan PoulenDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Tuula RinneDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Thomas RoujeauDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Caleb RogersDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
Agathe RoubertieDépartement de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.
Michelle SahagianDivision of Neurology, Rady Children's Hospital San Diego, CA, USA.
Elise SchaeferMedical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Laila SelimCairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.
Richard SelwayDepartment of Neurosurgery, King's College Hospital, London, UK.
Nutan SharmaDepartment of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Rebecca SignerDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Ariane G SoldatosUndiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
David A StevensonDivision of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.
Fiona StewartDepartment of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.
Michel TchanSydney Medical School, University of Sydney, Sydney, NSW, Australia.
Undiagnosed Diseases Network
Ishwar C VermaInstitute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.
Bert B A de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Jenny L WilsonDivision of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.
Derek A WongDivision of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Raghda ZaitounDepartment of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.ORCID 0000-0003-4434-000X
Dolly ZhenDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
Anna ZnaczkoDepartment of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.
Russell C DaleDepartment of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.
Claudio M de GusmãoDepartment of Neurology, Harvard Medical School, Boston, MA, USA.
Jennifer FriedmanDivision of Neurology, Rady Children's Hospital San Diego, CA, USA.
Victor S C FungMovement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.
Mary D KingDepartment of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
Shekeeb S MohammadDepartment of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.
Luis RohenaDivision of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.
Jeff L WaughDivision of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.
Camilo ToroUndiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
F Lucy RaymondNIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Maya TopfInstitute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.
Philippe CoubesDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.
Kathleen M GormanMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Manju A KurianMolecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

Funding

UW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Center for Integrated Approaches to Undiagnosed DiseasesU01HG007690 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOSCALZO, JOSEPH · 2014 to 2022
$10.4M
UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
TorsinA as a key link in receptor-mediated signalingP01NS087997 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI STANDAERT, DAVID G. · 2015 to 2019
$6.4M
Molecular Imaging of the Nicotinic Cholinergic Receptor in Parkinson's disease (PD): Implication of for understanding the neurobiology of cognitive impairmentK23NS101096 · NINDS · JOHNS HOPKINS UNIVERSITY · PI MILLS, KELLY ALEXANDER · 2017 to 2021
$1000k
NHGRI NIH HHS U01 HG007690NHGRI NIH HHS U01 HG007703NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NINDS NIH HHS K23 NS101096NINDS NIH HHS P01 NS087997Wellcome Trust
6 · The paper itself

Abstract

Heterozygous mutations in

Indexed as

deep brain stimulation (DBS)dystoniageneticsKMT2Bneurodevelopment

Identifiers

PMID39990802
PMCPMC11844621

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.