{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T22:27:30Z","timestamp":1784845650765,"version":"3.55.0"},"reference-count":64,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T00:00:00Z","timestamp":1749600000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disease and Stroke","doi-asserted-by":"publisher","award":["1F31NS129242"],"award-info":[{"award-number":["1F31NS129242"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disease and Stroke","doi-asserted-by":"publisher","award":["NS134755A1"],"award-info":[{"award-number":["NS134755A1"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD105354"],"award-info":[{"award-number":["P50 HD105354"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020432","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["1DP2MH129985"],"award-info":[{"award-number":["1DP2MH129985"]}],"id":[{"id":"10.13039\/100020432","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020432","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R00MH111836"],"award-info":[{"award-number":["R00MH111836"]}],"id":[{"id":"10.13039\/100020432","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020432","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["1S10OD032363"],"award-info":[{"award-number":["1S10OD032363"]}],"id":[{"id":"10.13039\/100020432","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005634","name":"Esther A. and Joseph Klingenstein Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005634","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000879","name":"Alfred P. Sloan Foundation","doi-asserted-by":"publisher","award":["FG-2020-13529"],"award-info":[{"award-number":["FG-2020-13529"]}],"id":[{"id":"10.13039\/100000879","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000874","name":"Brain and Behavior Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000874","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National"},{"name":"Alliance for Research on Schizophrenia and Depression"},{"DOI":"10.13039\/501100022221","name":"SickKids Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022221","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Azrieli Precision Child Health Platform"},{"DOI":"10.13039\/100014653","name":"NIHR Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203308"],"award-info":[{"award-number":["NIHR203308"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Individuals with monoallelic gain-of-function variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of DOT1L remains unclear. Here, we sought to define the effects of partial DOT1L loss by applying bulk and single-nucleus RNA-sequencing, ChIP-sequencing, imaging, multielectrode array recordings and behavioural analysis of zebrafish and multiple mouse models.<\/jats:p>\n                  <jats:p>We present a cohort of 16 individuals (12 females, 4 males) with neurodevelopmental disorders and monoallelic DOT1L variants, including a frameshift deletion, an in-frame deletion, a nonsense, and missense variants clustered in the catalytic domain. We demonstrate that specific variants cause loss of methyltransferase activity. In primary cortical neurons, Dot1l knockdown disrupts transcription of synaptic genes, neuron branching, expression of a synaptic protein and neuronal activity. Further in the cortex of heterozygous Dot1l mice, Dot1l loss causes sex-specific transcriptional responses and H3K79me2 depletion, including within downregulated genes. Lastly, using both zebrafish and mouse models, we found behavioural disruptions that include developmental deficits and sex-specific social behavioural changes.<\/jats:p>\n                  <jats:p>Overall, we define how DOT1L loss leads to neurological dysfunction by demonstrating that partial Dot1l loss impacts neuronal transcription, neuron morphology and behaviour across multiple models and systems.<\/jats:p>","DOI":"10.1093\/brain\/awaf212","type":"journal-article","created":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T07:24:37Z","timestamp":1749453877000},"page":"343-359","source":"Crossref","is-referenced-by-count":3,"title":["Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder"],"prefix":"10.1093","volume":"149","author":[{"given":"Marissa J","family":"Maroni","sequence":"first","affiliation":[{"name":"Neuroscience Graduate Group, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Epigenetics Institute, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Barton","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Epigenetics Institute, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Cell and Molecular Biology Graduate Group, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Epigenetics Institute, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9239-3846","authenticated-orcid":false,"given":"Ashish R","family":"Deshwar","sequence":"additional","affiliation":[{"name":"Program in Developmental and Stem Cell Biology, Sickkids Research Institute , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 1E8 ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]},{"name":"Program in Genetics and Genome Biology, SickKids Research Institute , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip D","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Cell and Developmental Biology, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephine","family":"Millard","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Cell and Developmental Biology, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine , New York, NY 10016 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annastelle","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Epigenetics Institute, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Cell and Molecular Biology Graduate Group, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rili","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Epigenetics Institute, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alekh","family":"Paranjapye","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Epigenetics Institute, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor","family":"Faundes","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Enfermedades Metab\u00f3licas, Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos, Universidad de Chile , Santiago 7830490 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela M","family":"Repetto","sequence":"additional","affiliation":[{"name":"Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Cl\u00ednica Alemana-Universidad del Desarrollo , Las Condes 7610671 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caoimhe","family":"McKenna","sequence":"additional","affiliation":[{"name":"Northern Ireland Regional Genetics Service , Belfast BT9 7AB, Northern Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelle L","family":"Shillington","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Cincinnati Children\u2019s Hospital Medical Center , Cincinnati, OH 45229 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanika","family":"Phornphutkul","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Rhode Island Hospital , Providence, RI 0290 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne B","family":"Hove","sequence":"additional","affiliation":[{"name":"Member of ERNBond, Rare Diseases Unit, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital , Copenhagen 2100 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1211-9979","authenticated-orcid":false,"given":"Grazia M S","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center , GD Rotterdam 3015 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Schot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center , GD Rotterdam 3015 ,","place":["The Netherlands"]},{"name":"Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center , GD Rotterdam 3015 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1231-1562","authenticated-orcid":false,"given":"Tahsin Stefan","family":"Barakat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center , GD Rotterdam 3015 ,","place":["The Netherlands"]},{"name":"Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center , GD Rotterdam 3015 ,","place":["The Netherlands"]},{"name":"ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center , GD Rotterdam 3015 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M","family":"Richmond","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland, Royal Brisbane & Women\u2019s Hospital , Herston, Queensland 4006 ,","place":["Australia"]},{"name":"School of Medicine, Griffith University , Gold Coast, Queensland 4215 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Lauzon","sequence":"additional","affiliation":[{"name":"Alberta Children\u2019s Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary , Calgary AB T2N 1N4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed Ibrahim Elsayed","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Brody School of Medicine, East Carolina University , Greenville, NC 27834 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1272-0518","authenticated-orcid":false,"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[{"name":"Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Universit\u00e9, Inserm, CNRS, H\u00f4pital Piti\u00e9 Salp\u00eatri\u00e8re , 75013 Paris ,","place":["France"]},{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Assistance Publique-H\u00f4pitaux de Paris (APHP) Sorbonne Universit\u00e9, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75651 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"H\u00e9ron","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Assistance Publique-H\u00f4pitaux de Paris (APHP) Sorbonne Universit\u00e9, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75651 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minke M A","family":"van Aalst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center , GD Rotterdam 3015 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Slavena","family":"Atemin","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u2018Genica\u2019 , Sofia 1612 ,","place":["Bulgaria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mila","family":"Sleptsova","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u2018Genica\u2019 , Sofia 1612 ,","place":["Bulgaria"]},{"name":"Department of Medical Chemistry and Biochemistry, Medical University Sofia , Sofia 1431 ,","place":["Bulgaria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iliyana","family":"Aleksandrova","sequence":"additional","affiliation":[{"name":"Clinic of Child Neurology, MHATNP \u2018St. Naum\u2019, Medical University Sofia , Sofia 1431 ,","place":["Bulgaria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albena","family":"Todorova","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u2018Genica\u2019 , Sofia 1612 ,","place":["Bulgaria"]},{"name":"Department of Medical Chemistry and Biochemistry, Medical University Sofia , Sofia 1431 ,","place":["Bulgaria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra L","family":"Watkins","sequence":"additional","affiliation":[{"name":"Department of Genetics, McMaster Children\u2019s Hospital , Hamilton, ON L8N 3Z5 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariya A","family":"Kozenko","sequence":"additional","affiliation":[{"name":"Department of Genetics, McMaster Children\u2019s Hospital , Hamilton, ON L8N 3Z5 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Natera-de Benito","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Hospital Sant Joan de Deu , Barcelona 08950 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Ortez","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Hospital Sant Joan de Deu , Barcelona 08950 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berta","family":"Estevez-Arias","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Hospital Sant Joan de Deu , Barcelona 08950 ,","place":["Spain"]},{"name":"Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu , Barcelona 08950 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Lecoquierre","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen , Rouen 76000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e9vin","family":"Cassinari","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen , Rouen 76000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Guerrot","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen , Rouen 76000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Levy","sequence":"additional","affiliation":[{"name":"Department of Genetics, APHP-Robert Debr\u00e9 University Hospital , Paris 75019 ,","place":["France"]},{"name":"Laboratoire de biologie m\u00e9dicale multisites SeqOIA\u2014FMG2025 , Paris 75014 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xenia","family":"Latypova","sequence":"additional","affiliation":[{"name":"Department of Genetics, APHP-Robert Debr\u00e9 University Hospital , Paris 75019 ,","place":["France"]},{"name":"Laboratoire de biologie m\u00e9dicale multisites SeqOIA\u2014FMG2025 , Paris 75014 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[{"name":"Department of Genetics, APHP-Robert Debr\u00e9 University Hospital , Paris 75019 ,","place":["France"]},{"name":"Laboratoire de biologie m\u00e9dicale multisites SeqOIA\u2014FMG2025 , Paris 75014 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A Micheil","family":"Innes","sequence":"additional","affiliation":[{"name":"University of Calgary Department of Medical Genetics, Alberta Children\u2019s Hospital Research Institute , Calgary, AB T3B 6A8 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Ru","family":"Yang","sequence":"additional","affiliation":[{"name":"University of Calgary Department of Medical Genetics, Alberta Children\u2019s Hospital Research Institute , Calgary, AB T3B 6A8 ,","place":["Canada"]},{"name":"Department of Medical Genetics, University of British Columbia , Vancouver, BC V6T 1Z4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8527-2210","authenticated-orcid":false,"given":"Siddharth","family":"Banka","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester M13 9WL ,","place":["UK"]},{"name":"Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester , Manchester M13 9WL ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children\u2019s Hospital, LMU Hospital, Ludwig-Maximilians-University , Munich 80539 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maureen","family":"Jacob","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Kruer","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children\u2019s Hospital , Phoenix, AZ 85016 ,","place":["USA"]},{"name":"Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine\u2014Phoenix , Phoenix, AZ 85004 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Skidmore","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children\u2019s Hospital , Phoenix, AZ 85016 ,","place":["USA"]},{"name":"Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine\u2014Phoenix , Phoenix, AZ 85004 ,","place":["USA"]},{"name":"College of Health Solutions, Arizona State University , Tempe, AZ 85287 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina I","family":"Galaz-Montoya","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children\u2019s Hospital , Phoenix, AZ 85016 ,","place":["USA"]},{"name":"Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine\u2014Phoenix , Phoenix, AZ 85004 ,","place":["USA"]},{"name":"Genetics, GIDP PhD Program , Tucson, AZ 85721 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somayeh","family":"Bakhtiari","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children\u2019s Hospital , Phoenix, AZ 85016 ,","place":["USA"]},{"name":"Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine\u2014Phoenix , Phoenix, AZ 85004 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica L","family":"Mester","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Granato","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karim-Jean","family":"Armache","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine , New York, NY 10016 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0099-9945","authenticated-orcid":false,"given":"Gregory","family":"Costain","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 1E8 ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]},{"name":"Program in Genetics and Genome Biology, SickKids Research Institute , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7064-8123","authenticated-orcid":false,"given":"Erica","family":"Korb","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Epigenetics Institute, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,6,11]]},"reference":[{"key":"2026010812425972100_awaf212-B1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.4172\/2472-1786.100073","article-title":"Why do we find it so hard to calculate the burden of neurodevelopmental disorders","volume":"4","author":"Megan Cleaton","year":"2018","journal-title":"J Child Dev Disord"},{"key":"2026010812425972100_awaf212-B2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13034-022-00462-1","article-title":"Current state of knowledge on the prevalence of neurodevelopmental disorders in childhood according to the DSM-5: A systematic review in accordance with the PRISMA criteria","volume":"16","author":"Franc\u00e9s","year":"2022","journal-title":"Child Adolesc Psychiatry Ment Health"},{"key":"2026010812425972100_awaf212-B3","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1001\/jamapsychiatry.2021.3815","article-title":"Neurodevelopmental disorders among publicly or privately insured children in the United States","volume":"79","author":"Straub","year":"2022","journal-title":"JAMA Psychiatry"},{"key":"2026010812425972100_awaf212-B4","volume-title":"America\u2019s children and the environment","author":"Axelrad","year":"2013","edition":"3rd ed"},{"key":"2026010812425972100_awaf212-B5","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat Genet"},{"key":"2026010812425972100_awaf212-B6","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Prevalence and architecture of de novo mutations in developmental disorders","volume":"542","author":"McRae","year":"2017","journal-title":"Nature"},{"key":"2026010812425972100_awaf212-B7","doi-asserted-by":"crossref","first-page":"4932","DOI":"10.1038\/s41467-020-18723-y","article-title":"Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders","volume":"11","author":"Wang","year":"2020","journal-title":"Nat Commun"},{"key":"2026010812425972100_awaf212-B8","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nrg3413","article-title":"From neural development to cognition: Unexpected roles for chromatin","volume":"14","author":"Ronan","year":"2013","journal-title":"Nat Rev Genet"},{"key":"2026010812425972100_awaf212-B9","doi-asserted-by":"crossref","first-page":"2517","DOI":"10.1007\/s00018-020-03714-5","article-title":"The emerging role of chromatin remodelers in neurodevelopmental disorders: A developmental perspective","volume":"78","author":"Mossink","year":"2020","journal-title":"Cell Mol Life Sci"},{"key":"2026010812425972100_awaf212-B10","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1101\/lm.029363.112","article-title":"Histone H3 lysine methylation in cognition and intellectual disability disorders","volume":"20","author":"Parkel","year":"2013","journal-title":"Learn Mem"},{"key":"2026010812425972100_awaf212-B11","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.3390\/ijms18071404","article-title":"Histone lysine methylation and neurodevelopmental disorders","volume":"18","author":"Kim","year":"2017","journal-title":"Int J Mol Sci"},{"key":"2026010812425972100_awaf212-B12","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ajhg.2017.11.013","article-title":"Histone lysine methylases and demethylases in the landscape of human developmental disorders","volume":"102","author":"Faundes","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2026010812425972100_awaf212-B13","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1080\/10409238.2021.1979457","article-title":"Reprogramming of the epigenome in neurodevelopmental disorders","volume":"57","author":"Wilson","year":"2022","journal-title":"Crit Rev Biochem Mol Biol"},{"key":"2026010812425972100_awaf212-B14","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1001\/jamapediatrics.2023.4952","article-title":"Rare de novo and inherited genes in familial and nonfamilial pediatric attention-deficit\/hyperactivity disorder","volume":"178","author":"Arnett","year":"2024","journal-title":"JAMA Pediatr"},{"key":"2026010812425972100_awaf212-B15","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1016\/j.ajhg.2023.09.009","article-title":"Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies","volume":"110","author":"Nil","year":"2023","journal-title":"Am J Hum Genet"},{"key":"2026010812425972100_awaf212-B16","doi-asserted-by":"crossref","first-page":"e1000190","DOI":"10.1371\/journal.pgen.1000190","article-title":"The histone H3K79 methyltransferase Dot1L is essential for mammalian development and heterochromatin structure","volume":"4","author":"Jones","year":"2008","journal-title":"PLoS Genet"},{"key":"2026010812425972100_awaf212-B17","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s00412-015-0570-5","article-title":"The upstreams and downstreams of H3K79 methylation by DOT1L","volume":"125","author":"Vlaming","year":"2016","journal-title":"Chromosoma"},{"key":"2026010812425972100_awaf212-B18","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/nsmb.1432","article-title":"Nonprocessive methylation by Dot1 leads to functional redundancy of histone H3K79 methylation states","volume":"15","author":"Frederiks","year":"2008","journal-title":"Nat Struct Mol Biol"},{"key":"2026010812425972100_awaf212-B19","doi-asserted-by":"crossref","first-page":"12485","DOI":"10.1038\/srep12485","article-title":"RE-IIBP Methylates H3K79 and induces MEIS1-mediated apoptosis via H2BK120 ubiquitination by RNF20","volume":"5","author":"Woo Park","year":"2015","journal-title":"Sci Rep"},{"key":"2026010812425972100_awaf212-B20","doi-asserted-by":"crossref","first-page":"2825","DOI":"10.1128\/MCB.02076-07","article-title":"DOT1L\/KMT4 recruitment and H3K79 methylation are ubiquitously coupled with gene transcription in mammalian cells","volume":"28","author":"Steger","year":"2008","journal-title":"Mol Cell Biol"},{"key":"2026010812425972100_awaf212-B21","doi-asserted-by":"crossref","first-page":"39698","DOI":"10.1074\/jbc.M112.384057","article-title":"Human histone H3K79 methyltransferase DOT1L methyltransferase binds actively transcribing RNA polymerase II to regulate gene expression","volume":"287","author":"Kim","year":"2012","journal-title":"J Biol Chem"},{"key":"2026010812425972100_awaf212-B22","doi-asserted-by":"crossref","first-page":"e2106148118","DOI":"10.1073\/pnas.2106148118","article-title":"DOT1L complex regulates transcriptional initiation in human erythroleukemic cells","volume":"118","author":"Wu","year":"2021","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2026010812425972100_awaf212-B23","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1126\/science.adc9318","article-title":"Menin \u201creads\u201d H3K79me2 mark in a nucleosomal context","volume":"379","author":"Lin","year":"2023","journal-title":"Science"},{"key":"2026010812425972100_awaf212-B24","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1101\/gad.2057811","article-title":"The diverse functions of Dot1 and H3K79 methylation","volume":"25","author":"Nguyen","year":"2011","journal-title":"Genes Dev"},{"key":"2026010812425972100_awaf212-B25","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1093\/nar\/gky953","article-title":"DOT1L promotes progenitor proliferation and primes neuronal layer identity in the developing cerebral cortex","volume":"47","author":"Franz","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2026010812425972100_awaf212-B26","doi-asserted-by":"crossref","first-page":"4273","DOI":"10.1007\/s12035-018-1377-1","article-title":"Differential methylation of H3K79 reveals DOT1L target genes and function in the cerebellum in vivo","volume":"56","author":"Bovio","year":"2019","journal-title":"Mol Neurobiol"},{"key":"2026010812425972100_awaf212-B27","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/s13041-020-00623-3","article-title":"Differentiation and localization of interneurons in the developing spinal cord depends on DOT1L expression","volume":"13","author":"Gray de Cristoforis","year":"2020","journal-title":"Mol Brain"},{"key":"2026010812425972100_awaf212-B28","doi-asserted-by":"crossref","first-page":"10272","DOI":"10.1093\/cercor\/bhad281","article-title":"DOT1L deletion impairs the development of cortical parvalbumin-expressing interneurons","volume":"33","author":"Cheffer","year":"2023","journal-title":"Cereb Cortex"},{"key":"2026010812425972100_awaf212-B29","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/stem.2187","article-title":"DOT1L activity promotes proliferation and protects cortical neural stem cells from activation of ATF4-DDIT3-mediated ER stress in vitro","volume":"34","author":"Roidl","year":"2016","journal-title":"Stem Cells"},{"key":"2026010812425972100_awaf212-B30","doi-asserted-by":"crossref","first-page":"5200","DOI":"10.1038\/s41467-020-19001-7","article-title":"DOT1L-mediated murine neuronal differentiation associates with H3K79me2 accumulation and preserves SOX2-enhancer accessibility","volume":"11","author":"Ferrari","year":"2020","journal-title":"Nat Commun"},{"key":"2026010812425972100_awaf212-B31","doi-asserted-by":"crossref","first-page":"27365","DOI":"10.1073\/pnas.2001075117","article-title":"DOT1L-controlled cell-fate determination and transcription elongation are independent of H3K79 methylation","volume":"117","author":"Cao","year":"2020","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2026010812425972100_awaf212-B32","doi-asserted-by":"crossref","first-page":"e56233","DOI":"10.15252\/embr.202256233","article-title":"DOT1L activity affects neural stem cell division mode and reduces differentiation and ASNS expression","volume":"24","author":"Appiah","year":"2023","journal-title":"EMBO Rep"},{"key":"2026010812425972100_awaf212-B33","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.3390\/ijms24021387","article-title":"Neuronal Dot1l activity acts as a mitochondrial gene-repressor associated with human brain aging via H3K79 hypermethylation","volume":"24","author":"Van Heesbeen","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2026010812425972100_awaf212-B34","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: A matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum Mutat"},{"key":"2026010812425972100_awaf212-B35","first-page":"1030","article-title":"MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains","volume":"40","author":"Wiel","year":"2019","journal-title":"Hum Mutat"},{"key":"2026010812425972100_awaf212-B36","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2026010812425972100_awaf212-B37","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/nn.4524","article-title":"Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder","volume":"20","author":"C Yuen","year":"2017","journal-title":"Nat Neurosci"},{"key":"2026010812425972100_awaf212-B38","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1016\/j.cell.2019.02.002","article-title":"Mechanism of cross-talk between H2B ubiquitination and H3 methylation by Dot1L","volume":"176","author":"Worden","year":"2019","journal-title":"Cell"},{"key":"2026010812425972100_awaf212-B39","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/bioinformatics\/btt691","article-title":"mCSM: Predicting the effects of mutations in proteins using graph-based signatures","volume":"30","author":"Pires","year":"2014","journal-title":"Bioinformatics"},{"issue":"W1","key":"2026010812425972100_awaf212-B40","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gkae337","article-title":"RING 4.0: Faster residue interaction networks with novel interaction types across over 35,000 different chemical structures","volume":"52","author":"Del Conte","year":"2024","journal-title":"Nucleic Acids Res"},{"key":"2026010812425972100_awaf212-B41","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ajhg.2018.06.009","article-title":"Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles","volume":"103","author":"Coban-Akdemir","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2026010812425972100_awaf212-B42","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1038\/nature12111","article-title":"The zebrafish reference genome sequence and its relationship to the human genome","volume":"496","author":"Howe","year":"2013","journal-title":"Nature"},{"key":"2026010812425972100_awaf212-B43","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1186\/1471-2105-12-357","article-title":"An integrative approach to ortholog prediction for disease-focused and other functional studies","volume":"12","author":"Hu","year":"2011","journal-title":"BMC Bioinform"},{"key":"2026010812425972100_awaf212-B44","doi-asserted-by":"crossref","first-page":"3769","DOI":"10.1038\/s41380-023-02272-z","article-title":"Mitochondrial proteins encoded by the 22q11.2 neurodevelopmental locus regulate neural stem and progenitor cell proliferation","volume":"28","author":"Campbell","year":"2023","journal-title":"Mol Psychiatry"},{"key":"2026010812425972100_awaf212-B45","doi-asserted-by":"crossref","first-page":"112243","DOI":"10.1016\/j.celrep.2023.112243","article-title":"High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways","volume":"42","author":"Weinschutz Mendes","year":"2023","journal-title":"Cell Rep"},{"key":"2026010812425972100_awaf212-B46","doi-asserted-by":"publisher","author":"Capps","DOI":"10.1101\/2024.01.18.576309"},{"key":"2026010812425972100_awaf212-B47","doi-asserted-by":"crossref","first-page":"e59683","DOI":"10.7554\/eLife.59683","article-title":"A simple and effective F0 knockout method for rapid screening of behaviour and other complex phenotypes","volume":"10","author":"Kroll","year":"2021","journal-title":"Elife"},{"issue":"D1","key":"2026010812425972100_awaf212-B48","doi-asserted-by":"crossref","first-page":"D988","DOI":"10.1093\/nar\/gkab1049","article-title":"Ensembl 2022","volume":"50","author":"Cunningham","year":"2022","journal-title":"Nucleic Acids Res"},{"key":"2026010812425972100_awaf212-B49","doi-asserted-by":"crossref","first-page":"14717","DOI":"10.1523\/JNEUROSCI.2770-14.2014","article-title":"Unique function of kinesin Kif5A in localization of mitochondria in axons","volume":"34","author":"Campbell","year":"2014","journal-title":"J Neurosci"},{"key":"2026010812425972100_awaf212-B50","doi-asserted-by":"crossref","first-page":"e168","DOI":"10.1093\/nar\/gku936","article-title":"Easy quantitative assessment of genome editing by sequence trace decomposition","volume":"42","author":"Brinkman","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"2026010812425972100_awaf212-B51","first-page":"923","article-title":"A behavioral assay to measure responsiveness of zebrafish to changes in light intensities","volume":"20","author":"Emran","year":"2008","journal-title":"J Vis Exp"},{"key":"2026010812425972100_awaf212-B52","doi-asserted-by":"crossref","first-page":"2526","DOI":"10.1242\/jeb.003939","article-title":"Modulation of locomotor activity in larval zebrafish during light adaptation","volume":"210","author":"Burgess","year":"2007","journal-title":"J Exp Biol"},{"key":"2026010812425972100_awaf212-B53","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/dev.420070109","article-title":"The development and behavioral characteristics of the startle response in the zebra fish","volume":"7","author":"Kimmel","year":"1974","journal-title":"Dev Psychobiol"},{"key":"2026010812425972100_awaf212-B54","doi-asserted-by":"crossref","first-page":"4984","DOI":"10.1523\/JNEUROSCI.0615-07.2007","article-title":"Sensorimotor gating in larval zebrafish","volume":"27","author":"Burgess","year":"2007","journal-title":"J Neurosci"},{"key":"2026010812425972100_awaf212-B55","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.neuron.2019.05.002","article-title":"SynGO: An evidence-based, expert-curated knowledge base for the synapse","volume":"103","author":"Koopmans","year":"2019","journal-title":"Neuron"},{"key":"2026010812425972100_awaf212-B56","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nn.2741","article-title":"Dendritic spine pathology in neuropsychiatric disorders","volume":"14","author":"Penzes","year":"2011","journal-title":"Nat Neurosci"},{"key":"2026010812425972100_awaf212-B57","doi-asserted-by":"crossref","first-page":"5080","DOI":"10.1093\/nar\/23.24.5080","article-title":"A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells","volume":"23","author":"Schwenk","year":"1995","journal-title":"Nucleic Acids Res"},{"key":"2026010812425972100_awaf212-B58","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/cr.2011.115","article-title":"Essential role of DOT1L in maintaining normal adult hematopoiesis","volume":"21","author":"Nguyen","year":"2011","journal-title":"Cell Res"},{"key":"2026010812425972100_awaf212-B59","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1101\/gad.2018511","article-title":"DOT1L regulates dystrophin expression and is critical for cardiac function","volume":"25","author":"Nguyen","year":"2011","journal-title":"Genes Dev"},{"key":"2026010812425972100_awaf212-B60","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.4103\/1673-5374.300340","article-title":"Ultrasonic vocalizations in mice: Relevance for ethologic and neurodevelopmental disorders studies","volume":"16","author":"Premoli","year":"2021","journal-title":"Neural Regen Res"},{"key":"2026010812425972100_awaf212-B61","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/dvg.20256","article-title":"Genetic targeting of principal neurons in neocortex and hippocampus of NEX-Cre mice","volume":"44","author":"Goebbels","year":"2006","journal-title":"Genesis"},{"key":"2026010812425972100_awaf212-B62","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1038\/npp.2012.116","article-title":"The impact of MeCP2 loss- or gain-of-function on synaptic plasticity","volume":"38","author":"Na","year":"2013","journal-title":"Neuropsychopharmacol"},{"key":"2026010812425972100_awaf212-B63","doi-asserted-by":"crossref","first-page":"4109","DOI":"10.1038\/s41467-023-39645-5","article-title":"Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders","volume":"14","author":"Gracia-Diaz","year":"2023","journal-title":"Nat Commun"},{"key":"2026010812425972100_awaf212-B64","doi-asserted-by":"crossref","first-page":"113994","DOI":"10.1016\/j.expneurol.2022.113994","article-title":"Mice lacking full length Adgrb1 (Bai1) exhibit social deficits, increased seizure susceptibility, and altered brain development","volume":"351","author":"Shiu","year":"2022","journal-title":"Exp Neurol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awaf212\/63464728\/awaf212.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/149\/1\/343\/63464728\/awaf212.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/149\/1\/343\/63464728\/awaf212.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T17:43:28Z","timestamp":1767894208000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/149\/1\/343\/8159995"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,11]]},"references-count":64,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,6,11]]},"published-print":{"date-parts":[[2026,1,8]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaf212","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,1]]},"published":{"date-parts":[[2025,6,11]]}}}