ArticleGenes2024
A Genotype/Phenotype Study of
Abstract read
In one paragraph
Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
0numbers the graph read from it
0cells of the map it votes in
7citing 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
7 citing papers in PubMed.
- Rare Coding Variants Reveal Distinct Genetic Architectures Across Multidimensional Sleep Phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency.Science advances · 2026Article
- Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.Human molecular genetics · 2026Article
- Cumulative environmental exposures adversely impact social behaviour and are associated with dysregulation of genes and proteins involved in epigenetic, ribosomal, and immune regulation in male mice.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.NPJ genomic medicine · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience.Frontiers in neuroscience · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
38 authors.
Maria Carla BorrotoCentre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Coralie MichaudCentre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Chloé HudonCentre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0003-3255-0456
Katherine AgreDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.
Carolyn D ApplegateDepartment of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0002-9323-3887
Alan H BeggsThe Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-8818-0568
Hans T BjornssonDepartment of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.ORCID 0000-0002-9743-4205
Mei-Jan ChenDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Cynthia CurryGenetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA.
Orrin DevinskyDepartments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA.ORCID 0000-0003-0044-4632
Tracy Dudding-BythHunter Genetics, Newcastle, NSW 2298, Australia.
Kelly FaganUCSF Benioff Children's Hospital, San Francisco, CA 93940, USA.
Candice R FinnilaHudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.
Ralitza GavrilovaDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.
Casie A GenettiThe Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Susan M HiattHudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Monica H WojcikThe Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-8162-5031
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Caroline M KolvenbachDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Bruce R KorfDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Paul KruszkaGeneDx LLC, Gaithersburg, MD 20877, USA.ORCID 0000-0003-4949-0875
Hong LiDepartment of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.
Jessica LitwinDepartment of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA.
Julien MarcadierDivision of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID 0000-0001-6127-6308
Patrick R BlackburnDepartment of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA.
Margot R F ReijndersDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Heiko ReutterInstitute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany.ORCID 0000-0002-3591-5265
Ina SchanzeInstitute of Human Genetics, 39120 Magdeburg, Germany.
Joseph T ShiehDivision of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA.
Cathy A StevensDepartment of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA.
Zaheer ValivullahCenter for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.
Marie-José van den BoogaardDepartment of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.ORCID 0000-0002-3100-9337
Eric W KleeDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.ORCID 0000-0003-2946-5795
Philippe M CampeauCentre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.ORCID 0000-0001-9713-7107
Funding
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4MGenomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5MThe Burden of Genetic Disorders in Infant MortalityK23HD102589 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI WOJCIK, MONICA HSIUNG · 2020 to 2024
$840kNHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG007301NHGRI NIH HHS UM1HG007301NICHD NIH HHS K23 HD102589NICHD NIH HHS P50 HD105351
Abstract
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in
Indexed as
Jumonji Domain-Containing Histone DemethylasesMutation, MissensePhenotypeAdolescentAdultChildChild, PreschoolFemaleGenetic Association StudiesGenotypeHumansInfantIntellectual DisabilityMaleNuclear ProteinsRepressor ProteinsJumonji Domain-Containing Histone DemethylasesKDM5B protein, humanNuclear ProteinsRepressor Proteinsepigeneticsgenetic syndromeshistone demethylationintellectual disabilitiesKDM5neurodevelopmental disorderspolygenetic interactions
Identifiers
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Read underepoch 390
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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.