{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:38:07Z","timestamp":1790483887752,"version":"4.1.0"},"reference-count":41,"publisher":"The Company of Biologists","issue":"10","license":[{"start":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T00:00:00Z","timestamp":1758499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["532002382"],"award-info":[{"award-number":["532002382"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"crossref","award":["EQU202003010222"],"award-info":[{"award-number":["EQU202003010222"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004431","name":"Fondation de France","doi-asserted-by":"crossref","award":["00123416"],"award-info":[{"award-number":["00123416"]}],"id":[{"id":"10.13039\/501100004431","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004431","name":"Fondation de France","doi-asserted-by":"crossref","award":["00154573"],"award-info":[{"award-number":["00154573"]}],"id":[{"id":"10.13039\/501100004431","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100031366","name":"ERA-Net NEURON","doi-asserted-by":"crossref","award":["ANR- 21-NEU2-0003-03"],"award-info":[{"award-number":["ANR- 21-NEU2-0003-03"]}],"id":[{"id":"10.13039\/100031366","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100021419","name":"PHENOMIN","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100021419","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Institut Clinique de la Souris"},{"name":"German Neurology Society"},{"DOI":"10.13039\/501100018936","name":"Universit\u00e4tsklinikum Heidelberg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100018936","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in NR2F1, characterized by developmental delay, intellectual disability, optic nerve anomalies and autism spectrum disorder. Most pathogenic variants cluster within the highly conserved DNA-binding domain (DBD) or ligand-binding domain (LBD) of NR2F1 and are associated with variable clinical severity, suggesting a genotype-phenotype correlation. Although previous mouse models have provided important insights, comprehensive behavioral characterization remains limited. Here, we present two novel BBSOAS mouse models harboring patient-specific variants in the DBD (Nr2f1+\/R139L) and LBD (Nr2f1+\/E397*), alongside the established Nr2f1+\/\u2212 model. We analyzed brain morphology and behavior to further expand the murine phenotype and investigate the genotype-phenotype correlation. We demonstrate that these models recapitulate key aspects of the BBSOAS phenotype, including deficits in cognition, social communication and motor function, and that the presence and severity of behavioral abnormalities are dependent on variant type. Our findings provide new evidence for a genotype-phenotype correlation associated with domain-specific NR2F1 variants and establish a robust platform for future mechanistic and therapeutic studies.<\/jats:p>","DOI":"10.1242\/dmm.052426","type":"journal-article","created":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T07:36:48Z","timestamp":1756193808000},"source":"Crossref","is-referenced-by-count":3,"title":["Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior"],"prefix":"10.1242","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2069-5470","authenticated-orcid":false,"given":"Johann G.","family":"Maass","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]},{"name":"Boston Children's Hospital 2 Division of Genetics and Genomics , , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3878-2366","authenticated-orcid":false,"given":"Dominik","family":"Kamionek","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabelle","family":"Mantilleri","sequence":"additional","affiliation":[{"name":"Institute of Biology Valrose (iBV), University C\u00f4te d'Azur (UCA), CNRS 7277, Inserm 1091 3 , Avenue Valrose 28, Nice 06108 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Theiss","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"D\u00f6tsch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1696-3030","authenticated-orcid":false,"given":"Felix","family":"Franke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1696-4402","authenticated-orcid":false,"given":"Tim","family":"Schubert","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7872-2831","authenticated-orcid":false,"given":"Jonas G.","family":"Scheck","sequence":"additional","affiliation":[{"name":"University Hospital Heidelberg 4 Neuroradiology Department , , 69120 Heidelberg ,","place":["Germany"]},{"name":"German Cancer Research Center (DKFZ) 5 Clinical Cooperation Unit Translational Radiation Oncology , , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Pitzer","sequence":"additional","affiliation":[{"name":"Interdisciplinary Neurobehavioral Core, Heidelberg University 6 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Piovani","sequence":"additional","affiliation":[{"name":"Institute of Biology Valrose (iBV), University C\u00f4te d'Azur (UCA), CNRS 7277, Inserm 1091 3 , Avenue Valrose 28, Nice 06108 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4402-4974","authenticated-orcid":false,"given":"Michele","family":"Bertacchi","sequence":"additional","affiliation":[{"name":"Institute of Biology Valrose (iBV), University C\u00f4te d'Azur (UCA), CNRS 7277, Inserm 1091 3 , Avenue Valrose 28, Nice 06108 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Deschaux","sequence":"additional","affiliation":[{"name":"Institute of Biology Valrose (iBV), University C\u00f4te d'Azur (UCA), CNRS 7277, Inserm 1091 3 , Avenue Valrose 28, Nice 06108 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anubhav","family":"Singh","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-An","family":"Chen","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine 7 Department of Molecular and Human Genetics , , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Fr\u00f6hlich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7105-2957","authenticated-orcid":false,"given":"Mich\u00e8le","family":"Studer","sequence":"additional","affiliation":[{"name":"Institute of Biology Valrose (iBV), University C\u00f4te d'Azur (UCA), CNRS 7277, Inserm 1091 3 , Avenue Valrose 28, Nice 06108 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2148-7490","authenticated-orcid":false,"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University Clinic 1 , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2025,9,22]]},"reference":[{"key":"2025092204570140700_DMM052426C1","doi-asserted-by":"publisher","first-page":"4151","DOI":"10.1242\/dev.02600","article-title":"COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth","volume":"133","author":"Armentano","year":"2006","journal-title":"Development"},{"key":"2025092204570140700_DMM052426C2","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.1038\/nn1958","article-title":"COUP-TFI regulates the balance of cortical patterning between frontal\/motor and sensory areas","volume":"10","author":"Armentano","year":"2007","journal-title":"Nat. Neurosci."},{"key":"2025092204570140700_DMM052426C3","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1242\/dmm.006239","article-title":"Standard operating procedures for describing and performing metabolic tests of glucose homeostasis in mice","volume":"3","author":"Ayala","year":"2010","journal-title":"Dis. Model. Mech."},{"key":"2025092204570140700_DMM052426C4","doi-asserted-by":"publisher","first-page":"e0116363","DOI":"10.1371\/journal.pone.0116363","article-title":"Effects of an H3R antagonist on the animal model of autism induced by prenatal exposure to valproic acid","volume":"10","author":"Baronio","year":"2015","journal-title":"PLoS ONE"},{"key":"2025092204570140700_DMM052426C5","doi-asserted-by":"publisher","first-page":"e104163","DOI":"10.15252\/embj.2019104163","article-title":"NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients","volume":"39","author":"Bertacchi","year":"2020","journal-title":"EMBO J."},{"key":"2025092204570140700_DMM052426C6","doi-asserted-by":"publisher","first-page":"1260","DOI":"10.3390\/cells11081260","article-title":"Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome","volume":"11","author":"Bertacchi","year":"2022","journal-title":"Cells"},{"key":"2025092204570140700_DMM052426C7","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1016\/j.ajhg.2014.01.002","article-title":"NR2F1 mutations cause optic atrophy with intellectual disability","volume":"94","author":"Bosch","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"2025092204570140700_DMM052426C8","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/s0014-2999(03)01274-3","article-title":"The mouse light\/dark box test","volume":"463","author":"Bourin","year":"2003","journal-title":"Eur. J. Pharmacol."},{"key":"2025092204570140700_DMM052426C9","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1038\/gim.2016.18","article-title":"The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations","volume":"18","author":"Chen","year":"2016","journal-title":"Genet. Med."},{"key":"2025092204570140700_DMM052426C10","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1093\/hmg\/ddz233","article-title":"Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity","volume":"29","author":"Chen","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"2025092204570140700_DMM052426C11","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1038\/s41386-018-0303-6","article-title":"DeepSqueak: a deep learning-based system for detection and analysis of ultrasonic vocalizations","volume":"44","author":"Coffey","year":"2019","journal-title":"Neuropsychopharmacology"},{"key":"2025092204570140700_DMM052426C12","doi-asserted-by":"publisher","first-page":"e12556","DOI":"10.1111\/gbb.12556","article-title":"Hyperactive and anxiolytic-like behaviors result from loss of COUP-TFI\/Nr2f1 in the mouse cortex","volume":"18","author":"Contesse","year":"2019","journal-title":"Genes Brain Behav."},{"key":"2025092204570140700_DMM052426C13","doi-asserted-by":"publisher","first-page":"4153","DOI":"10.1128\/mcb.12.9.4153-4163.1992","article-title":"Chicken ovalbumin upstream promoter transcription factor (COUP-TF) dimers bind to different GGTCA response elements, allowing COUP-TF to repress hormonal induction of the vitamin D3, thyroid hormone, and retinoic acid receptors","volume":"12","author":"Cooney","year":"1992","journal-title":"Mol. Cell. Biol."},{"key":"2025092204570140700_DMM052426C14","doi-asserted-by":"publisher","first-page":"212","DOI":"10.3174\/ajnr.A7758","article-title":"Common neuroimaging findings in Bosch-Boonstra-Schaaf optic atrophy syndrome","volume":"44","author":"Desai","year":"2023","journal-title":"AJNR. Am. J. Neuroradiol."},{"key":"2025092204570140700_DMM052426C15","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.jneumeth.2007.04.009","article-title":"The CatWalk gait analysis in assessment of both dynamic and static gait changes after adult rat sciatic nerve resection","volume":"164","author":"Deumens","year":"2007","journal-title":"J. Neurosci. Methods"},{"key":"2025092204570140700_DMM052426C16","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1037\/0735-7044.102.4.471","article-title":"Spatial cognitive maps: differential role of parietal cortex and hippocampal formation","volume":"102","author":"DiMattia","year":"1988","journal-title":"Behav. Neurosci."},{"key":"2025092204570140700_DMM052426C17","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1016\/j.bbr.2013.08.031","article-title":"The Autism ProSAP1\/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations","volume":"256","author":"Ey","year":"2013","journal-title":"Behav. Brain Res."},{"key":"2025092204570140700_DMM052426C18","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1016\/j.cct.2009.06.007","article-title":"Performance of five two-sample location tests for skewed distributions with unequal variances","volume":"30","author":"Fagerland","year":"2009","journal-title":"Contemp. Clin. Trials"},{"key":"2025092204570140700_DMM052426C19","doi-asserted-by":"publisher","first-page":"1629","DOI":"10.1093\/cercor\/bhv336","article-title":"Gradient COUP-TFI expression is required for functional organization of the hippocampal septo-temporal longitudinal axis","volume":"27","author":"Flore","year":"2017","journal-title":"Cereb. Cortex"},{"key":"2025092204570140700_DMM052426C20","doi-asserted-by":"crossref","DOI":"10.1007\/978-1-0716-2748-8","volume-title":"Psychiatric Vulnerability, Mood, and Anxiety Disorders","author":"Harro","year":"2023","edition":"1st edn"},{"key":"2025092204570140700_DMM052426C21","doi-asserted-by":"publisher","first-page":"108889","DOI":"10.1016\/j.jneumeth.2020.108889","article-title":"Use of the CatWalk gait analysis system to assess functional recovery in rodent models of peripheral nerve injury - a systematic review","volume":"345","author":"Heinzel","year":"2020","journal-title":"J. Neurosci. Methods"},{"key":"2025092204570140700_DMM052426C22","doi-asserted-by":"publisher","first-page":"2448","DOI":"10.1121\/10.0030473","article-title":"Enhancing the analysis of murine neonatal ultrasonic vocalizations: Development, evaluation, and application of different mathematical models","volume":"156","author":"Herdt","year":"2024","journal-title":"J. Acoust. Soc. Am."},{"key":"2025092204570140700_DMM052426C23","doi-asserted-by":"publisher","first-page":"fcab162","DOI":"10.1093\/braincomms\/fcab162","article-title":"Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model","volume":"3","author":"Jurkute","year":"2021","journal-title":"Brain Commun."},{"key":"2025092204570140700_DMM052426C24","doi-asserted-by":"publisher","first-page":"e17721","DOI":"10.1371\/journal.pone.0017721","article-title":"Cross fostering experiments suggest that mice songs are innate","volume":"6","author":"Kikusui","year":"2011","journal-title":"PLoS ONE"},{"key":"2025092204570140700_DMM052426C25","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/j.expneurol.2004.09.016","article-title":"Stepwise motor and all-or-none sensory recovery is associated with nonlinear sparing after incremental spinal cord injury in rats","volume":"191","author":"Kloos","year":"2005","journal-title":"Exp. Neurol."},{"key":"2025092204570140700_DMM052426C26","doi-asserted-by":"publisher","first-page":"e07892","DOI":"10.7554\/eLife.07892","article-title":"A quantitative framework for whole-body coordination reveals specific deficits in freely walking ataxic mice","volume":"4","author":"Machado","year":"2015","journal-title":"eLife"},{"key":"2025092204570140700_DMM052426C27","doi-asserted-by":"publisher","first-page":"e0161984","DOI":"10.1371\/journal.pone.0161984","article-title":"Trendelenburg-like gait, instability and altered step patterns in a mouse model for limb girdle muscular dystrophy 2i","volume":"11","author":"Maricelli","year":"2016","journal-title":"PLoS ONE"},{"key":"2025092204570140700_DMM052426C28","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1186\/s12915-015-0154-0","article-title":"Quantification of gait parameters in freely walking rodents","volume":"13","author":"Mendes","year":"2015","journal-title":"BMC Biol."},{"key":"2025092204570140700_DMM052426C29","doi-asserted-by":"publisher","first-page":"2045","DOI":"10.1242\/dev.139949","article-title":"COUP-TFI mitotically regulates production and migration of dentate granule cells and modulates hippocampal Cxcr4 expression","volume":"144","author":"Parisot","year":"2017","journal-title":"Development"},{"key":"2025092204570140700_DMM052426C30","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1212\/WNL.56.7.972","article-title":"Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study","volume":"56","author":"Pinter","year":"2001","journal-title":"Neurology"},{"key":"2025092204570140700_DMM052426C31","doi-asserted-by":"publisher","first-page":"21372","DOI":"10.1038\/s41598-021-00625-8","article-title":"Gait performance of adolescent mice assessed by the CatWalk XT depends on age, strain and sex and correlates with speed and body weight","volume":"11","author":"Pitzer","year":"2021","journal-title":"Sci. Rep."},{"key":"2025092204570140700_DMM052426C32","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/s00362-009-0224-x","article-title":"The two-sample t-test: pre-testing its assumptions does not pay off","volume":"52","author":"Rasch","year":"2011","journal-title":"Stat. Pap."},{"key":"2025092204570140700_DMM052426C33","doi-asserted-by":"publisher","first-page":"1426","DOI":"10.1002\/ajmg.a.61580","article-title":"Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations","volume":"182","author":"Rech","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"key":"2025092204570140700_DMM052426C34","doi-asserted-by":"publisher","first-page":"fcac335","DOI":"10.1093\/braincomms\/fcac335","article-title":"Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization","volume":"5","author":"Scarrott","year":"2023","journal-title":"Brain Commun."},{"key":"2025092204570140700_DMM052426C35","doi-asserted-by":"publisher","first-page":"e3067","DOI":"10.1371\/journal.pone.0003067","article-title":"Unusual repertoire of vocalizations in the BTBR T+tf\/J mouse model of autism","volume":"3","author":"Scattoni","year":"2008","journal-title":"PLoS ONE"},{"key":"2025092204570140700_DMM052426C36","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.neubiorev.2019.04.012","article-title":"Behavioral neuroscience of autism","volume":"110","author":"Takumi","year":"2020","journal-title":"Neurosci. Biobehav. Rev."},{"key":"2025092204570140700_DMM052426C37","doi-asserted-by":"publisher","first-page":"ENEURO.0497-20.2021","DOI":"10.1523\/ENEURO.0497-20.2021","article-title":"Combination of defined CatWalk gait parameters for predictive locomotion recovery in experimental spinal cord injury rat models","volume":"8","author":"Timotius","year":"2021","journal-title":"eNeuro"},{"key":"2025092204570140700_DMM052426C38","doi-asserted-by":"publisher","first-page":"767965","DOI":"10.3389\/fnmol.2021.767965","article-title":"Structural and functional aspects of the neurodevelopmental gene NR2F1: from animal models to human pathology","volume":"14","author":"Tocco","year":"2021","journal-title":"Front. Mol. Neurosci."},{"key":"2025092204570140700_DMM052426C39","doi-asserted-by":"publisher","first-page":"3576","DOI":"10.1073\/pnas.0911792107","article-title":"Area-specific temporal control of corticospinal motor neuron differentiation by COUP-TFI","volume":"107","author":"Tomassy","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2025092204570140700_DMM052426C40","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1186\/s13104-018-3652-7","article-title":"Analysis of hippocampal-dependent learning and memory behaviour in mice lacking Nfix from adult neural stem cells","volume":"11","author":"Zalucki","year":"2018","journal-title":"BMC Res. Notes"},{"key":"2025092204570140700_DMM052426C41","doi-asserted-by":"publisher","first-page":"107521","DOI":"10.1016\/j.celrep.2020.03.085","article-title":"Imbalance of excitatory\/inhibitory neuron differentiation in neurodevelopmental disorders with an NR2F1 point mutation","volume":"31","author":"Zhang","year":"2020","journal-title":"Cell Rep."}],"container-title":["Disease Models &amp; Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.052426\/3662399\/dmm052426.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.052426\/3666219\/dmm052426.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.052426\/3666219\/dmm052426.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T08:57:10Z","timestamp":1758531430000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/dmm\/article\/18\/10\/dmm052426\/369253\/Models-of-Bosch-Boonstra-Schaaf-optic-atrophy"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,22]]},"references-count":41,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10,1]]}},"URL":"https:\/\/doi.org\/10.1242\/dmm.052426","relation":{},"ISSN":["1754-8403","1754-8411"],"issn-type":[{"value":"1754-8403","type":"print"},{"value":"1754-8411","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,22]]},"article-number":"dmm052426"}}