ArticleScience advances2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
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In one paragraph
Article in Science advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
5.3field-weighted citation impact, top 4% of its field
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
9 citing papers in PubMed, 17 citations in OpenAlex.
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- KMT5B in Cancerous and Noncancerous Diseases: Clinical and Mechanical Considerations.International journal of medical sciences · 2026Review
- Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.Journal of clinical medicine · 2025Article
- Bridging Genotype to Phenotype inGenes · 2025Review
- Disrupted diencephalon development and neuropeptidergic pathways in zebrafish with autism-risk mutations.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly.Frontiers in neuroscience · 2025Review
- Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b.Cell death discovery · 2024Article
- NovelHeliyon · 2024Article
- Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.Croatian medical journal · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
120 authors at 20 institutions in 15 countries.
Sarah E SheppardCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-3480-8123
Laura BryantCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-8483-8940
Rochelle N WickramasekaraStessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.ORCID 0000-0003-3090-9357
Courtney VaccaroCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Brynn RobertsonStessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
Jodi HallgrenStessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.ORCID 0000-0002-3892-8213
Jason HulenStessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
Cynthia J WatsonStessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
Victor FaundesDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID 0000-0002-6746-0103
Yannis DuffourdUnité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Pearl LeeAbramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-1274-2891
M Celeste SimonAbramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0001-9106-447X
Xavier de la CruzVall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID 0000-0002-9738-8472
Natália PadillaVall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID 0000-0002-7872-2279
Marco Flores-MendezRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-0524-9740
Naiara AkizuRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-9222-6960
Jacqueline SmilerCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-3201-228X
Renata Pellegrino Da SilvaCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-2265-6727
Michael MarchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-9173-6862
Abdias Diaz-RosadoCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Isabella Peixoto de BarcelosCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-3843-4520
Zhao Xiang ChoaEpithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.ORCID 0000-0002-1838-7931
Chin Yan LimEpithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.ORCID 0000-0002-1585-002X
Christèle DubourgLaboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.ORCID 0000-0003-1345-4522
Hubert JournelService de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.
Florence DemurgerDepartment of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.
Maureen MulhernDepartment of Pathology, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0001-8642-4741
Cigdem AkmanDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Natalie LippaInstitute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-7316-1476
Marisa AndrewsDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-5448-1204
Dustin BaldridgeDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-6027-6020
John ConstantinoDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0001-8888-4186
Arie van HaeringenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Irina Snoeck-StreefDepartment of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands.
Penny ChowDepartment of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0002-1726-0242
Anne HingDepartment of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
John M GrahamMedical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.
Margaret AuMedical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.
Laurence FaivreUFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement," FHU-TRANSLAD, Dijon, France.ORCID 0000-0001-9770-444X
Wei ShenUniversity of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-3779-0451
Rong MaoUniversity of Utah, Salt Lake City, UT, USA.
Janice PalumbosUniversity of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-8543-6828
David ViskochilUniversity of Utah, Salt Lake City, UT, USA.
William GahlNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-2494-6752
Cynthia TifftNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-3931-1207
Ellen MacnamaraNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9418-3287
Natalie HauserMedical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.
Rebecca MillerMedical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.
Jessica MaffeoMedical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.
Alexandra AfenjarAP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.
Diane DoummarAP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.
Boris KerenGenetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.ORCID 0000-0001-6172-8247
Pamela ArnDepartment of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA.
Sarah Macklin-MantiaDepartment of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA.ORCID 0000-0001-5141-3321
Ilse MeerschautCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.ORCID 0000-0001-5502-0568
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.ORCID 0000-0002-9743-4205
André ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.ORCID 0000-0002-6301-6363
Christiane ZweierInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Carole BrewerClinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK.
Anand SaggarClinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK.
Marie F SmelandDepartment of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.ORCID 0000-0002-1015-6338
Ajith KumarNortheast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.ORCID 0000-0003-3878-2856
Frances ElmslieSouth West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.ORCID 0000-0002-2508-9107
Charu DeshpandeDepartment of Medical Genetics, Guy's Hospital, London SE1 9RT, UK.ORCID 0000-0002-2069-1043
Mathilde NizonCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.
Benjamin CogneCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.
Yvette van IerlandDepartment of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.ORCID 0000-0003-1055-9855
Martina WilkeDepartment of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.ORCID 0000-0002-8115-8517
Marjon van SlegtenhorstDepartment of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.
Suzanne KoudijsDepartment of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.ORCID 0000-0001-8066-2853
Jin Yun ChenNeurology Department, Massachusetts General Hospital, Boston, MA, USA.
David DredgeUniversity Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.
Danielle PierNeurology Department, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0001-8621-9131
Saskia WortmannUniversity Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.ORCID 0000-0002-1968-8103
Erik-Jan KamsteegUniversity Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.ORCID 0000-0001-6480-1892
Johannes KochUniversity Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.
Devon HaynesDivision of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.ORCID 0000-0002-9660-4153
Lynda PollackDivision of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.
Hannah TitheradgeWest Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.ORCID 0000-0003-2111-9943
Kara RanguinDepartment of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.ORCID 0000-0002-9732-8090
Anne-Sophie Denommé-PichonUnité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.ORCID 0000-0002-8986-8222
Sacha WeberDepartment of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.ORCID 0000-0001-9363-5141
Rubén Pérez de la FuenteUDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.ORCID 0000-0002-2749-2709
Jaime Sánchez Del PozoUDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.
Jose Miguel Lezana RosalesUDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.ORCID 0000-0003-3510-2077
Pascal JosetUniversity of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.
Katharina SteindlUniversity of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.ORCID 0000-0002-4425-3072
Anita RauchUniversity of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.ORCID 0000-0003-2930-3163
Davide MeiPaediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.ORCID 0000-0001-6790-6251
Francesco MariPaediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.ORCID 0000-0001-6914-5812
Renzo GuerriniPaediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.ORCID 0000-0002-7272-7079
James LespinasseUF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France.
Frédéric Tran Mau-ThemUnité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.ORCID 0000-0002-3795-9456
Christophe PhilippeUnité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Benjamin DauriatService de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France.
Laure RaymondService de génétique, Laboratoire Eurofins Biomnis, Lyon, France.
Sébastien MouttonService de génétique, Laboratoire Eurofins Biomnis, Lyon, France.ORCID 0000-0002-8942-6731
Anna M Cueto-GonzálezHospital Vall d'Hebron, Barcelona, Spain.ORCID 0000-0001-7694-6124
Tiong Yang TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Cyril MignotAP-HP, Sorbonne Université, Département de Génétique, Paris, France.
Sarah GrottoAP-HP, Sorbonne Université, Département de Génétique, Paris, France.
Florence RenaldoAP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France.
Theodore G DrivasDepartment of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-8717-0111
Laura HennessyDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Anna RaperDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Ilaria ParentiInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.ORCID 0000-0002-1825-6237
Frank J KaiserInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Alma KuechlerInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Øyvind L BuskDepartment of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.ORCID 0000-0002-6960-2304
Lily IslamWest Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Jacob A SiedlikDepartment of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA.ORCID 0000-0001-5341-2373
Lindsay B HendersonGeneDx, Gaithersburg, MD, USA.
Jane JuusolaGeneDx, Gaithersburg, MD, USA.
Richard PersonGeneDx, Gaithersburg, MD, USA.
Rhonda E SchnurGeneDx, Gaithersburg, MD, USA.
Antonio VitobelloUnité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.ORCID 0000-0003-3717-8374
Siddharth BankaDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID 0000-0002-8527-2210
Elizabeth J BhojCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-5748-3507
Holly A F StessmanStessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.ORCID 0000-0002-0764-3493
Children's Hospital of Philadelphia · USCreighton University · USSorbonne Université · FRInserm · FRErasmus MC · NLParacelsus Medical University · ATUniversity of Utah · USColumbia University Irving Medical Center · USEssen University Hospital · DEInova Fairfax Hospital · USMeyer Children's Hospital · ITNational Institutes of Health · USResearch Institute Hospital 12 de Octubre · ESUniversity of Pennsylvania · USUniversity of Zurich · CHWashington University in St. Louis · USBirmingham Women’s and Children’s NHS Foundation Trust · GBCancer Research Institute · USCedars-Sinai Medical Center · USCentre Hospitalier Universitaire de Rennes · FR
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MUNMC Structural Biology CoreP20GM103427 · NIGMS · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI Heather Colleen Jensen-Smith · 2012 to 2026
$59.2MZINC FINGER-INSPIRED FLUORESCENT CHEMOSENSORSP20RR016469 · NCRR · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI TURPEN, JAMES B · 2001 to 2011
$36.2MUnderstanding the progression of hearing loss in an endolymphatic hydrops modelP20GM139762 · NIGMS · CREIGHTON UNIVERSITY · PI Hui Hong · 2021 to 2026
$16.1MNRSA Training CoreTL1TR001880 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI MEAGHER, EMMA ANNE · 2016 to 2025
$10.0MMEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MCellular and Molecular Mechanisms of Vascular MalformationsZIAHD009003 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI SHEPPARD, SARAH · 2022 to 2025
$6.1MPathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1MUndiagnosed Diseases ProgramZIAHG200421 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2023 to 2025
$825kNCATS NIH HHS TL1 TR001880NCRR NIH HHS P20 RR016469NIGMS NIH HHS P20 GM103427NIGMS NIH HHS P20 GM139762NIGMS NIH HHS T32 GM008638Wellcome Trust
Abstract
Pathogenic variants in
Indexed as
Histone MethyltransferasesMegalencephalyNeurodevelopmental DisordersAnimalsHaploinsufficiencyHumansMethyltransferasesMiceMice, KnockoutPhenotypeHistone MethyltransferasesKMT5B protein, humanKmt5b protein, mouseMethyltransferases
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
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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 Socratic graph.