ArticlemedRxiv : the preprint server for health sciences2024
Open access · greenAbstract readPreprint
In one paragraph
Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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.
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.
Who cites it
1 citing paper in PubMed, 10 citations in OpenAlex.
- The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders.Frontiers in molecular neuroscience · 2024Review
Corrections and comments
- Updated by
Authors and funding
97 authors at 20 institutions in 5 countries.
Yuyang ChenBig Data Institute, University of Oxford, Oxford, UK.
Ruebena DawesBig Data Institute, University of Oxford, Oxford, UK.
Hyung Chul KimBig Data Institute, University of Oxford, Oxford, UK.
Sarah L StentonBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Susan WalkerGenomics England, London, UK.
Alicia LjungdahlInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Jenny LordSheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
Vijay S GaneshBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-8709-9351
Jialan MaBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Alexandra C Martin-GearyBig Data Institute, University of Oxford, Oxford, UK.
Gabrielle LemireBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Elston N D'SouzaBig Data Institute, University of Oxford, Oxford, UK.
Shan DongInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Jamie M EllingfordGenomics England, London, UK.
David R AdamsUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0000-0002-6660-1242
Kirsten AllanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Madhura BakshiDepartment of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.
Erin E BaldwinDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Seth I BergerCenter for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.ORCID 0000-0001-7517-4302
Jonathan A BernsteinDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-5369-346X
Natasha J BrownVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-5108-8861
Kimberly ChapmanDivision of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
Alison G ComptonVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0002-2725-7055
Chloe A CunninghamVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0002-2525-1936
Precilla D'SouzaUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0009-0007-0395-1011
Emmanuèle C DélotCenter for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.
Kerith-Rae DiasNeuroscience Research Australia, Sydney, NSW, Australia.ORCID 0000-0002-4707-8089
Ellen R EliasDepartment of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.
Carey-Anne EvansNeuroscience Research Australia, Sydney, NSW, Australia.
Lisa EwansDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Kimberly EzellDivision of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0009-0005-7200-7644
Jamie L FraserCenter for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.ORCID 0000-0002-7794-8903
Lyndon GallacherVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0003-2245-9034
Casie A GenettiDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Christina L GrantDivision of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.ORCID 0000-0002-0627-4614
Tobias HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-0707-657X
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0001-5051-9714
Anna Le FevreVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0001-5843-9516
Richard J LeventerDepartment of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.ORCID 0000-0003-0362-5607
Jan E LiebeltPaediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.
Paul J LockhartDepartment of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.ORCID 0000-0003-2531-8413
Alan S MaDepartment of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.ORCID 0000-0002-9293-4753
Ellen F MacnamaraUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0000-0002-9418-3287
Taylor M MaurerGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0009-0002-2330-7980
Hector R MendezGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-6465-452X
Stephen B MontgomeryGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-5200-3903
Marie-Cécile NassogneService de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.
Serena NeumannDivision of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Melanie O'LearyBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Elizabeth E PalmerDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.ORCID 0000-0003-1844-215X
John PhillipsDivision of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Georgia PitsavaInstitute for Clinical and Translational Research, University of California, Irvine, CA, USA.
Ryan PysarDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Heidi L RehmBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-6025-0015
Chloe M ReuterGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-0429-9922
Nicole RevencuCenter for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Angelika RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Rocio RiusDepartment of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.ORCID 0000-0002-9871-3126
Lance RodanDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Tony RoscioliNeuroscience Research Australia, Sydney, NSW, Australia.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5664-7987
Rani SachdevDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Cas SimonsCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.ORCID 0000-0003-3147-8042
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Penny SnellBruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Laura ClairDepartment of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0001-8640-1371
Tiong Yang TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0001-8455-7778
Natalie B TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0003-3339-7342
Suzanna El TempleDepartment of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.
David R ThorburnVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0002-7725-9470
Cynthia J TifftUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0000-0002-3931-1207
Eloise UebergangMurdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0003-0305-7822
Grace E VanNoyBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1257-9702
Eric VilainInstitute for Clinical and Translational Science, University of California, Irvine, CA, USA.ORCID 0000-0002-5557-3709
David H ViskochilDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Laura WeddCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.
Matthew T WheelerGREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-8721-3022
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0001-7611-634X
Monica WojcikDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-8162-5031
Lynne A WolfeUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Zoe WolfensonUndiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Changrui XiaoDepartment of Neurology, University of California, Irvine, CA, USA.ORCID 0000-0001-9536-3389
David ZoccheNorth West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.ORCID 0000-0003-1390-0334
John L RubensteinDepartment of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.
Eirene Markenscoff-PapadimitriouDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.
Sebastian M FicaDepartment of Biochemistry, University of Oxford, Oxford, UK.
Diana BaralleSchool of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0002-7212-9554
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.
Joanna Mm HowsonHuman Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK.ORCID 0000-0001-7618-0050
Stephan J SandersInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.ORCID 0000-0001-9112-5148
Anne O'Donnell-LuriaBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
Nicola WhiffinBig Data Institute, University of Oxford, Oxford, UK.ORCID 0000-0003-1554-6594
Broad Institute · USThe University of Melbourne · AUNational Human Genome Research Institute · USStanford Medicine · USChildren's National · USGarvan Institute of Medical Research · AUUniversity of California, San Francisco · USCentre for Human Genetics · GBUNSW Sydney · AUBaylor College of Medicine · USBoston Children's Hospital · USUniversity of California, Irvine · USUniversity of Duisburg-Essen · DEVanderbilt University Medical Center · USVictorian Clinical Genetics Services · AUCliniques Universitaires Saint-Luc · BELiverpool Hospital · AUMurdoch Children's Research Institute · AUUniversity of Tübingen · DEUniversity of Utah · US
Funding
CTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9MStanford Mendelian Genomics Research CenterU01HG011762 · NHGRI · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, Stephen Montgomery · 2021 to 2026
$16.7MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MUniversity of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8MBroad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MValidation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang · 2019 to 2026
$14.3MPediatric Mendelian Genomics Research CenterU01HG011745 · NHGRI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Eric J. Vilain · 2021 to 2026
$13.3MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MPreclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9MClinical Outcomes in Aicardi Goutières SyndromeU01NS106845 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2019 to 2023
$7.5MAssessing Genomic, Regulatory and Transcriptional Variation at Single Nuclei Resolution in the Brains of Individuals with Autism Spectrum DisorderR01MH125516 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ARNOLD KRIEGSTEIN, Tomasz Nowakowski · 2021 to 2026
$3.8MNCATS NIH HHS UM1 TR004409NHGRI NIH HHS R01 HG009141NHGRI NIH HHS R21 HG012397NHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG010217NHGRI NIH HHS U01 HG011745NHGRI NIH HHS U01 HG011755NHGRI NIH HHS U01 HG011762NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG008900NIAMS NIH HHS K23 AR083505NICHD NIH HHS P50 HD103555NIMH NIH HHS R01 MH122681NIMH NIH HHS R01 MH129751NIMH NIH HHS U01 MH122681NINDS NIH HHS U01 NS106845NINDS NIH HHS U01 NS134358NINDS NIH HHS U24 NS131172NINDS NIH HHS U54 NS115052Wellcome Trust
Abstract
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes
Identifiers
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.