{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T20:56:09Z","timestamp":1776113769604,"version":"3.50.1"},"reference-count":176,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":16,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82473927"],"award-info":[{"award-number":["82473927"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LTGD24C040007"],"award-info":[{"award-number":["LTGD24C040007"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["World J Pediatr"],"published-print":{"date-parts":[[2026,3]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Williams syndrome (WS; OMIM #194,050) is a multisystem pediatric genetic disorder caused by a heterozygous microdeletion of a 1.5\u20131.8\u00a0Mb region at chromosome 7q11.23, encompassing 26 to 28 genes. Clinical hallmarks include cardiovascular anomalies, distinctive craniofacial morphology and neurodevelopmental deficits characterized by hypersociability, cognitive impairment and anxiety. Although causative therapies for WS still remain elusive, advances in gene editing and forebrain organoids have already greatly furthered our understanding of the underlying mechanisms.<\/jats:p>\n <\/jats:sec>\n \n Data sources<\/jats:title>\n \n This narrative review was conducted by searching for papers using PubMed\/MEDLINE. Relevant publications were identified using single and\/or combined keywords including: Williams syndrome, 7q11.23, microdeletion, microduplication, atypical deletion, neurodevelopment, neuroanatomy, neuroimaging. cognitive impairment, mouse models,\n GTF2I<\/jats:italic>\n ,\n GTF2IRD1<\/jats:italic>\n ,\n CLIP2<\/jats:italic>\n ,\n LIMK1<\/jats:italic>\n ,\n NCF1, EIF4H, STX1A\/B, FZD9, HIP1, CLDN3, FKBP6,<\/jats:italic>\n organoid, induced pluripotent stem cell (iPSC) and forebrain organoids.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Mouse models including multigene deletion strains recapitulating the WS critical region and single-gene knockout strains targeting\n Gtf2i<\/jats:italic>\n ,\n Gtf2ird1<\/jats:italic>\n ,\n Clip2<\/jats:italic>\n and\n Limk1<\/jats:italic>\n replicate key WS neurodevelopmental phenotypes, substantially contributing to mechanistic studies and therapeutic screening. In addition, forebrain organoids derived from patients or generated by gene editing have provided human-specific insights into progenitor dynamics, synaptic function, and ribosome biogenesis.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n This review synthesizes recent progress in WS modeling in the context of neurodevelopmental impairments. While animal models and forebrain organoids have substantially accelerated both mechanistic understanding and translational research in WS, effective diagnostic and therapeutic approaches are still unavailable. Integration of animal models and forebrain organoids, together with the advanced technologies, will be essential for biomarker discovery and development of mechanism-based therapeutic approaches.<\/jats:p>\n <\/jats:sec>\n \n Graphical Abstract<\/jats:title>\n <\/jats:sec>","DOI":"10.1007\/s12519-026-01020-x","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T18:50:45Z","timestamp":1773773445000},"page":"284-302","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions"],"prefix":"10.1007","volume":"22","author":[{"given":"Ya-Yue","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Jun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chai","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Han","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da-Qing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiao-Juan","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9879-8513","authenticated-orcid":false,"given":"Yi-Cheng","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"1020_CR1","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1177\/088307380201700406","volume":"17","author":"P Str\u00f8mme","year":"2002","unstructured":"Str\u00f8mme P, Bj\u00f8mstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17:269\u201371. https:\/\/doi.org\/10.1177\/088307380201700406.","journal-title":"J Child Neurol"},{"key":"1020_CR2","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1007\/s11065-022-09571-2","volume":"33","author":"CA Serrano-Ju\u00e1rez","year":"2023","unstructured":"Serrano-Ju\u00e1rez CA, Prieto-Corona B, Rodr\u00edguez-Camacho M, Sandoval-Lira L, Villalva-S\u00e1nchez \u00c1F, Y\u00e1\u00f1ez-T\u00e9llez MG, et al. Neuropsychological genotype-phenotype in patients with Williams syndrome with atypical deletions: a systematic review. Neuropsychol Rev. 2023;33:891\u2013911. https:\/\/doi.org\/10.1007\/s11065-022-09571-2.","journal-title":"Neuropsychol Rev"},{"key":"1020_CR3","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1007\/s10803-022-05807-5","volume":"54","author":"AE Gillooly","year":"2024","unstructured":"Gillooly AE, Riby DM, Durkin K, Rhodes SM. Friendships in children with Williams syndrome: parent and child perspectives. J Autism Dev Disord. 2024;54:509\u201317. https:\/\/doi.org\/10.1007\/s10803-022-05807-5.","journal-title":"J Autism Dev Disord"},{"key":"1020_CR4","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1080\/87565641.2003.9651895","volume":"23","author":"BP Klein-Tasman","year":"2003","unstructured":"Klein-Tasman BP, Mervis CB. Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Dev Neuropsychol. 2003;23:269\u201390. https:\/\/doi.org\/10.1080\/87565641.2003.9651895.","journal-title":"Dev Neuropsychol"},{"key":"1020_CR5","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1097\/YCO.0000000000000914","volume":"37","author":"RP Thom","year":"2024","unstructured":"Thom RP. Psychiatric and behavioral manifestations of Williams syndrome. Curr Opin Psychiatry. 2024;37:65\u201370. https:\/\/doi.org\/10.1097\/YCO.0000000000000914.","journal-title":"Curr Opin Psychiatry"},{"key":"1020_CR6","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1002\/ajmg.1320360321","volume":"36","author":"SA Tomc","year":"1990","unstructured":"Tomc SA, Williamson NK, Pauli RM. Temperament in Williams syndrome. Am J Med Genet. 1990;36:345\u201352. https:\/\/doi.org\/10.1002\/ajmg.1320360321.","journal-title":"Am J Med Genet"},{"key":"1020_CR7","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1080\/19315860902725867","volume":"2","author":"HF Dodd","year":"2009","unstructured":"Dodd HF, Porter MA. Psychopathology in Williams syndrome: the effect of individual differences across the life span. J Ment Health Res Intellect Disabil. 2009;2:89\u2013109. https:\/\/doi.org\/10.1080\/19315860902725867.","journal-title":"J Ment Health Res Intellect Disabil"},{"key":"1020_CR8","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1080\/87565641.2003.9651896","volume":"23","author":"EM Dykens","year":"2003","unstructured":"Dykens EM. Anxiety, fears, and phobias in persons with Williams syndrome. Dev Neuropsychol. 2003;23:291\u2013316. https:\/\/doi.org\/10.1080\/87565641.2003.9651896.","journal-title":"Dev Neuropsychol"},{"key":"1020_CR9","doi-asserted-by":"publisher","first-page":"22","DOI":"10.29046\/JJP.020.1.003","volume":"20","author":"J Kennedy","year":"2006","unstructured":"Kennedy J, Kaye D, Sadler L. Psychiatric diagnoses in patients with Williams syndrome and their families. Jefferson J Psychiatry. 2006;20:22\u201331. https:\/\/doi.org\/10.29046\/JJP.020.1.003.","journal-title":"Jefferson J Psychiatry"},{"key":"1020_CR10","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1002\/ajmg.b.30344","volume":"141B","author":"OT Leyfer","year":"2006","unstructured":"Leyfer OT, Woodruff\u2010Borden J, Klein\u2010Tasman BP, Fricke JS, Mervis CB. Prevalence of psychiatric disorders in 4 to 16\u2010year\u2010olds with Williams syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:615\u201322. https:\/\/doi.org\/10.1002\/ajmg.b.30344.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"1020_CR11","doi-asserted-by":"publisher","first-page":"1838","DOI":"10.1016\/j.ridd.2014.04.015","volume":"35","author":"R Ng","year":"2014","unstructured":"Ng R, J\u00e4rvinen A, Bellugi U. Toward a deeper characterization of the social phenotype of Williams syndrome: the association between personality and social drive. Res Dev Disabil. 2014;35:1838\u201349. https:\/\/doi.org\/10.1016\/j.ridd.2014.04.015.","journal-title":"Res Dev Disabil"},{"key":"1020_CR12","doi-asserted-by":"publisher","first-page":"3765","DOI":"10.1007\/s10803-016-2909-z","volume":"47","author":"R Royston","year":"2017","unstructured":"Royston R, Howlin P, Waite J, Oliver C. Anxiety disorders in Williams syndrome contrasted with intellectual disability and the general population: a systematic review and meta-analysis. J Autism Dev Disord. 2017;47:3765\u201377. https:\/\/doi.org\/10.1007\/s10803-016-2909-z.","journal-title":"J Autism Dev Disord"},{"key":"1020_CR13","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-35176-7","volume":"13","author":"V Sideropoulos","year":"2023","unstructured":"Sideropoulos V, Sokhn N, Palikara O, Van Herwegen J, Samson AC. Anxiety, concerns and emotion regulation in individuals with Williams syndrome and Down syndrome during the COVID-19 outbreak: a global study. Sci Rep. 2023;13:8177. https:\/\/doi.org\/10.1038\/s41598-023-35176-7.","journal-title":"Sci Rep"},{"key":"1020_CR14","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1111\/j.1365-2788.2011.01411.x","volume":"55","author":"M Elsabbagh","year":"2011","unstructured":"Elsabbagh M, Cohen H, Cohen M, Rosen S, Karmiloff\u2010Smith A. Severity of hyperacusis predicts individual differences in speech perception in Williams syndrome. J Intellect Disabil Res. 2011;55:563\u201371. https:\/\/doi.org\/10.1111\/j.1365-2788.2011.01411.x.","journal-title":"J Intellect Disabil Res"},{"key":"1020_CR15","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1212\/01.wnl.0000196643.35395.5f","volume":"66","author":"D Gothelf","year":"2006","unstructured":"Gothelf D, Farber N, Raveh E, Apter A, Attias J. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology. 2006;66:390\u20135. https:\/\/doi.org\/10.1212\/01.wnl.0000196643.35395.5f.","journal-title":"Neurology"},{"key":"1020_CR16","doi-asserted-by":"publisher","DOI":"10.2310\/7070.2001.20811","volume":"30","author":"LB Johnson","year":"2001","unstructured":"Johnson LB, Comeau M, Clarke KD. Hyperacusis in Williams syndrome. J Otolaryngol. 2001;30:090. https:\/\/doi.org\/10.2310\/7070.2001.20811.","journal-title":"J Otolaryngol"},{"key":"1020_CR17","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1111\/psyp.12407","volume":"52","author":"O Zarchi","year":"2015","unstructured":"Zarchi O, Avni C, Attias J, Frisch A, Carmel M, Michaelovsky E, et al. Hyperactive auditory processing in Williams syndrome: evidence from auditory evoked potentials. Psychophysiology. 2015;52:782\u20139. https:\/\/doi.org\/10.1111\/psyp.12407.","journal-title":"Psychophysiology"},{"key":"1020_CR18","doi-asserted-by":"publisher","DOI":"10.29219\/fnr.v67.9321","volume":"67","author":"D Renzi","year":"2023","unstructured":"Renzi D, Stanley T, Waxler J, Lee H, Pober B, Nordstrom M. Body mass index variation in adults with Williams syndrome: associations with predicted dietary intake and food behaviors. Food Nutr Res. 2023;67:9321. https:\/\/doi.org\/10.29219\/fnr.v67.9321.","journal-title":"Food Nutr Res"},{"issue":"Suppl 1","key":"1020_CR19","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1162\/089892900561959","volume":"12","author":"U Bellugi","year":"2000","unstructured":"Bellugi U, Lichtenberger L, Jones W, Lai Z, St. George MI. The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses. J Cogn Neurosci. 2000;12(Suppl 1):7\u201329. https:\/\/doi.org\/10.1162\/089892900561959.","journal-title":"J Cogn Neurosci"},{"key":"1020_CR20","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1111\/j.1469-7610.2008.01887.x","volume":"49","author":"MA Martens","year":"2008","unstructured":"Martens MA, Wilson SJ, Reutens DC. Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry. 2008;49:576\u2013608. https:\/\/doi.org\/10.1111\/j.1469-7610.2008.01887.x.","journal-title":"J Child Psychol Psychiatry"},{"key":"1020_CR21","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1080\/87565641.2003.9651891","volume":"23","author":"EK Farran","year":"2003","unstructured":"Farran EK, Jarrold C. Visuospatial cognition in Williams syndrome: reviewing and accounting for the strengths and weaknesses in performance. Dev Neuropsychol. 2003;23:173\u2013200. https:\/\/doi.org\/10.1080\/87565641.2003.9651891.","journal-title":"Dev Neuropsychol"},{"key":"1020_CR22","doi-asserted-by":"publisher","first-page":"2887","DOI":"10.1007\/s00221-020-05946-0","volume":"238","author":"Y Ito","year":"2020","unstructured":"Ito Y, Ito T, Kurahashi N, Ochi N, Noritake K, Sugiura H, et al. Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study. Exp Brain Res. 2020;238:2887\u201395. https:\/\/doi.org\/10.1007\/s00221-020-05946-0.","journal-title":"Exp Brain Res"},{"key":"1020_CR23","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.neuron.2004.08.014","volume":"43","author":"A Meyer-Lindenberg","year":"2004","unstructured":"Meyer-Lindenberg A, Kohn P, Mervis CB, Kippenhan JS, Olsen RK, Morris CA, et al. Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron. 2004;43:623\u201331. https:\/\/doi.org\/10.1016\/j.neuron.2004.08.014.","journal-title":"Neuron"},{"key":"1020_CR24","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1111\/jir.12346","volume":"61","author":"YP Wuang","year":"2017","unstructured":"Wuang YP, Tsai HY. Sensorimotor and visual perceptual functioning in school\u2010aged children with Williams syndrome. J Intellect Disabil Res. 2017;61:348\u201362. https:\/\/doi.org\/10.1111\/jir.12346.","journal-title":"J Intellect Disabil Res"},{"key":"1020_CR25","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1111\/jir.12317","volume":"60","author":"A Berencsi","year":"2016","unstructured":"Berencsi A, Gombos F, Kov\u00e1cs I. Capacity to improve fine motor skills in Williams syndrome. J Intellect Disabil Res. 2016;60:956\u201368. https:\/\/doi.org\/10.1111\/jir.12317.","journal-title":"J Intellect Disabil Res"},{"key":"1020_CR26","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2023.105364","volume":"153","author":"RP Thom","year":"2023","unstructured":"Thom RP, Canales C, Tresvalles M, McDougle CJ, Hooker JM, Chen Y, et al. Neuroimaging research in Williams syndrome: beginning to bridge the gap with clinical care. Neurosci Biobehav Rev. 2023;153:105364. https:\/\/doi.org\/10.1016\/j.neubiorev.2023.105364.","journal-title":"Neurosci Biobehav Rev"},{"key":"1020_CR27","doi-asserted-by":"publisher","first-page":"1096","DOI":"10.1016\/j.neuroimage.2007.04.024","volume":"36","author":"M-C Chiang","year":"2007","unstructured":"Chiang M-C, Reiss AL, Lee AD, Bellugi U, Galaburda AM, Korenberg JR, et al. 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry. Neuroimage. 2007;36:1096\u2013109. https:\/\/doi.org\/10.1016\/j.neuroimage.2007.04.024.","journal-title":"Neuroimage"},{"key":"1020_CR28","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1016\/j.ridd.2013.12.014","volume":"35","author":"A Os\u00f3rio","year":"2014","unstructured":"Os\u00f3rio A, Soares JM, Prieto MF, Vasconcelos C, Fernandes C, Sousa S, et al. Cerebral and cerebellar MRI volumes in williams syndrome. Res Dev Disabil. 2014;35:922\u20138. https:\/\/doi.org\/10.1016\/j.ridd.2013.12.014.","journal-title":"Res Dev Disabil"},{"issue":"Suppl 1","key":"1020_CR29","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1162\/089892900561986","volume":"12","author":"AL Reiss","year":"2000","unstructured":"Reiss AL, Eliez S, Schmitt JE, Straus E, Lai Z, Jones W, et al. IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study. J Cogn Neurosci. 2000;12(Suppl 1):65\u201373. https:\/\/doi.org\/10.1162\/089892900561986.","journal-title":"J Cogn Neurosci"},{"key":"1020_CR30","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0031913","volume":"7","author":"SA Meda","year":"2012","unstructured":"Meda SA, Pryweller JR, Thornton-Wells TA. Regional brain differences in cortical thickness, surface area and subcortical volume in individuals with Williams syndrome. PLoS ONE. 2012;7:e31913. https:\/\/doi.org\/10.1371\/journal.pone.0031913.","journal-title":"PLoS ONE"},{"key":"1020_CR31","doi-asserted-by":"publisher","first-page":"5009","DOI":"10.1523\/JNEUROSCI.5272-03.2004","volume":"24","author":"AL Reiss","year":"2004","unstructured":"Reiss AL, Eckert MA, Rose FE, Karchemskiy A, Kesler S, Chang M, et al. An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome. J Neurosci. 2004;24:5009\u201315. https:\/\/doi.org\/10.1523\/JNEUROSCI.5272-03.2004.","journal-title":"J Neurosci"},{"key":"1020_CR32","doi-asserted-by":"publisher","first-page":"4146","DOI":"10.1523\/JNEUROSCI.0165-05.2005","volume":"25","author":"PM Thompson","year":"2005","unstructured":"Thompson PM, Lee AD, Dutton RA, Geaga JA, Hayashi KM, Eckert MA, et al. Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. J Neurosci. 2005;25:4146\u201358. https:\/\/doi.org\/10.1523\/JNEUROSCI.0165-05.2005.","journal-title":"J Neurosci"},{"key":"1020_CR33","doi-asserted-by":"publisher","first-page":"1888","DOI":"10.1172\/JCI24892","volume":"115","author":"A Meyer-Lindenberg","year":"2005","unstructured":"Meyer-Lindenberg A. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 2005;115:1888\u201395. https:\/\/doi.org\/10.1172\/JCI24892.","journal-title":"J Clin Invest"},{"key":"1020_CR34","doi-asserted-by":"publisher","first-page":"2767","DOI":"10.1016\/j.ridd.2011.05.033","volume":"32","author":"L Capit\u00e3o","year":"2011","unstructured":"Capit\u00e3o L, Sampaio A, Sampaio C, Vasconcelos C, F\u00e9rnandez M, Garayz\u00e1bal E, et al. MRI amygdala volume in Williams syndrome. Res Dev Disabil. 2011;32:2767\u201372. https:\/\/doi.org\/10.1016\/j.ridd.2011.05.033.","journal-title":"Res Dev Disabil"},{"key":"1020_CR35","doi-asserted-by":"publisher","first-page":"1132","DOI":"10.1523\/JNEUROSCI.5324-08.2009","volume":"29","author":"BW Haas","year":"2009","unstructured":"Haas BW, Mills D, Yam A, Hoeft F, Bellugi U, Reiss A. Genetic influences on sociability: heightened amygdala reactivity and event-related responses to positive social stimuli in Williams syndrome. J Neurosci. 2009;29:1132\u20139. https:\/\/doi.org\/10.1523\/JNEUROSCI.5324-08.2009.","journal-title":"J Neurosci"},{"key":"1020_CR36","doi-asserted-by":"publisher","first-page":"E860","DOI":"10.1073\/pnas.1114774109","volume":"109","author":"M Jabbi","year":"2012","unstructured":"Jabbi M, Kippenhan JS, Kohn P, Marenco S, Mervis CB, Morris CA, et al. The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function. Proc Natl Acad Sci U S A. 2012;109:E860\u20136. https:\/\/doi.org\/10.1073\/pnas.1114774109.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1020_CR37","doi-asserted-by":"publisher","first-page":"2446","DOI":"10.1016\/j.neuropsychologia.2009.04.017","volume":"47","author":"MA Martens","year":"2009","unstructured":"Martens MA, Wilson SJ, Dudgeon P, Reutens DC. Approachability and the amygdala: insights from Williams syndrome. Neuropsychologia. 2009;47:2446\u201353. https:\/\/doi.org\/10.1016\/j.neuropsychologia.2009.04.017.","journal-title":"Neuropsychologia"},{"key":"1020_CR38","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1038\/nn1494","volume":"8","author":"A Meyer-Lindenberg","year":"2005","unstructured":"Meyer-Lindenberg A, Hariri AR, Munoz KE, Mervis CB, Mattay VS, Morris CA, et al. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci. 2005;8:991\u20133. https:\/\/doi.org\/10.1038\/nn1494.","journal-title":"Nat Neurosci"},{"key":"1020_CR39","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1016\/j.neuroimage.2009.11.069","volume":"50","author":"KE Mu\u00f1oz","year":"2010","unstructured":"Mu\u00f1oz KE, Meyer-Lindenberg A, Hariri AR, Mervis CB, Mattay VS, Morris CA, et al. Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content. Neuroimage. 2010;50:340\u20136. https:\/\/doi.org\/10.1016\/j.neuroimage.2009.11.069.","journal-title":"Neuroimage"},{"key":"1020_CR40","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1093\/scan\/nsp023","volume":"4","author":"BM Paul","year":"2009","unstructured":"Paul BM, Snyder AZ, Haist F, Raichle ME, Bellugi U, Stiles J. Amygdala response to faces parallels social behavior in Williams syndrome. Soc Cogn Affect Neurosci. 2009;4:278\u201385. https:\/\/doi.org\/10.1093\/scan\/nsp023.","journal-title":"Soc Cogn Affect Neurosci"},{"key":"1020_CR41","doi-asserted-by":"publisher","first-page":"2118","DOI":"10.1016\/j.ridd.2013.03.026","volume":"34","author":"D Menghini","year":"2013","unstructured":"Menghini D, Di Paola M, Murri R, Costanzo F, Caltagirone C, Vicari S, et al. Cerebellar vermis abnormalities and cognitive functions in individuals with Williams syndrome. Res Dev Disabil. 2013;34:2118\u201326. https:\/\/doi.org\/10.1016\/j.ridd.2013.03.026.","journal-title":"Res Dev Disabil"},{"key":"1020_CR42","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0047457","volume":"7","author":"MA Porter","year":"2012","unstructured":"Porter MA, Dobson-Stone C, Kwok JBJ, Schofield PR, Beckett W, Tassabehji M. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. PLoS One. 2012;7:e47457. https:\/\/doi.org\/10.1371\/journal.pone.0047457.","journal-title":"PLoS One"},{"key":"1020_CR43","doi-asserted-by":"publisher","first-page":"1695","DOI":"10.1007\/s10803-020-04656-4","volume":"51","author":"CA Serrano-Ju\u00e1rez","year":"2021","unstructured":"Serrano-Ju\u00e1rez CA, Prieto-Corona B, Rodr\u00edguez-Camacho M, Venegas-Vega CA, Y\u00e1\u00f1ez-T\u00e9llez MaG, Silva-Pereyra J, et al. An exploration of social cognition in children with different degrees of genetic deletion in Williams syndrome. J Autism Dev Disord. 2021;51:1695\u2013704. https:\/\/doi.org\/10.1007\/s10803-020-04656-4.","journal-title":"J Autism Dev Disord"},{"key":"1020_CR44","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1017\/S1355617718000711","volume":"24","author":"CA Serrano-Ju\u00e1rez","year":"2018","unstructured":"Serrano-Ju\u00e1rez CA, Venegas-Vega CA, Y\u00e1\u00f1ez-T\u00e9llez MaG, Rodr\u00edguez-Camacho M, Silva-Pereyra J, Salgado-Ceballos H, et al. Cognitive, behavioral, and adaptive profiles in Williams syndrome with and without loss of GTF2IRD2. J Int Neuropsychol Soc. 2018;24:896\u2013904. https:\/\/doi.org\/10.1017\/S1355617718000711.","journal-title":"J Int Neuropsychol Soc"},{"key":"1020_CR45","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci10110839","volume":"10","author":"ML Dentici","year":"2020","unstructured":"Dentici ML, Bergonzini P, Scibelli F, Caciolo C, De Rose P, Cumbo F, et al. 7q11.23 microduplication syndrome: clinical and neurobehavioral profiling. Brain Sci. 2020;10:839. https:\/\/doi.org\/10.3390\/brainsci10110839.","journal-title":"Brain Sci"},{"key":"1020_CR46","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1038\/nn.4276","volume":"19","author":"B Barak","year":"2016","unstructured":"Barak B, Feng G. Neurobiology of social behavior abnormalities in autism and Williams syndrome. Nat Neurosci. 2016;19:647\u201355. https:\/\/doi.org\/10.1038\/nn.4276.","journal-title":"Nat Neurosci"},{"key":"1020_CR47","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1007\/s12519-022-00629-y","volume":"19","author":"TA De Lima","year":"2023","unstructured":"De Lima TA, Zuanetti PA, Nunes MEN, Hamad APA. Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period. World J Pediatr. 2023;19:715\u201326. https:\/\/doi.org\/10.1007\/s12519-022-00629-y.","journal-title":"World J Pediatr"},{"key":"1020_CR48","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1056\/NEJMra0903074","volume":"362","author":"BR Pober","year":"2010","unstructured":"Pober BR. Williams\u2013Beuren syndrome. N Engl J Med. 2010;362:239\u201352. https:\/\/doi.org\/10.1056\/NEJMra0903074.","journal-title":"N Engl J Med"},{"key":"1020_CR49","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-021-00276-z","volume":"7","author":"BA Kozel","year":"2021","unstructured":"Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, et al. Williams syndrome. Nat Rev Dis Primers. 2021;7:42. https:\/\/doi.org\/10.1038\/s41572-021-00276-z.","journal-title":"Nat Rev Dis Primers"},{"key":"1020_CR50","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2024-084297","volume":"15","author":"Q Zhou","year":"2025","unstructured":"Zhou Q, Cao Y, Erejep N, Li L, Xiu W, Shi J, et al. Chinese neonatal follow-up network: a national protocol for follow-up assessment and collaborative research to improve developmental outcomes of high-risk preterm infants. BMJ Open. 2025;15:e084297. https:\/\/doi.org\/10.1136\/bmjopen-2024-084297.","journal-title":"BMJ Open"},{"key":"1020_CR51","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1007\/s12519-023-00742-6","volume":"19","author":"Q Zhou","year":"2023","unstructured":"Zhou Q, Cao Y, Zhang L, Erejep N, Xiu W-L, Shi J-Y, et al. Status of the neonatal follow-up system in China: survey and analysis. World J Pediatr. 2023;19:1104\u201310. https:\/\/doi.org\/10.1007\/s12519-023-00742-6.","journal-title":"World J Pediatr"},{"key":"1020_CR52","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1007\/s12519-025-00948-w","volume":"21","author":"SS Shi","year":"2025","unstructured":"Shi SS, Zhang QN, Shu Q. Brain injury and neurodevelopmental trajectory in neonates with complex congenital heart disease: current status and challenges. World J Pediatr. 2025;21:627\u201331. https:\/\/doi.org\/10.1007\/s12519-025-00948-w.","journal-title":"World J Pediatr"},{"key":"1020_CR53","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1016\/j.athoracsur.2019.04.094","volume":"108","author":"F-Y Wu","year":"2019","unstructured":"Wu F-Y, Mondal A, Del Nido PJ, Gauvreau K, Emani SM, Baird CW, et al. Long-term surgical prognosis of primary supravalvular aortic stenosis repair. Ann Thorac Surg. 2019;108:1202\u20139. https:\/\/doi.org\/10.1016\/j.athoracsur.2019.04.094.","journal-title":"Ann Thorac Surg"},{"key":"1020_CR54","doi-asserted-by":"publisher","first-page":"2106","DOI":"10.1016\/j.ridd.2012.06.006","volume":"33","author":"MA Martens","year":"2012","unstructured":"Martens MA, Seyfer DL, Andridge RR, Foster JEA, Chowdhury M, McClure KE, et al. Parent report of antidepressant, anxiolytic, and antipsychotic medication use in individuals with Williams syndrome: effectiveness and adverse effects. Res Dev Disabil. 2012;33:2106\u201321. https:\/\/doi.org\/10.1016\/j.ridd.2012.06.006.","journal-title":"Res Dev Disabil"},{"key":"1020_CR55","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1080\/14656566.2024.2308678","volume":"25","author":"E Shin","year":"2024","unstructured":"Shin E, Renzi D, Canales C, Ravichandran C, McDougle CJ, Thom RP. Buspirone for the treatment of anxiety in Williams syndrome: a retrospective chart review study. Expert Opin Pharmacother. 2024;25:113\u201320. https:\/\/doi.org\/10.1080\/14656566.2024.2308678.","journal-title":"Expert Opin Pharmacother"},{"key":"1020_CR56","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1089\/cap.2024.0124","volume":"35","author":"RP Thom","year":"2025","unstructured":"Thom RP, Renzi D, Pecukonis M, Mullett J, Ravichandran C, McDougle CJ. A prospective open-label trial of buspirone for the treatment of anxiety in Williams syndrome. J Child Adolesc Psychopharmacol. 2025;35:222\u201330. https:\/\/doi.org\/10.1089\/cap.2024.0124.","journal-title":"J Child Adolesc Psychopharmacol"},{"key":"1020_CR57","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1007\/s10803-019-04301-9","volume":"50","author":"RP Thom","year":"2020","unstructured":"Thom RP, Keary CJ, Waxler JL, Pober BR, McDougle CJ. Buspirone for the treatment of generalized anxiety disorder in Williams syndrome: a case series. J Autism Dev Disord. 2020;50:676\u201382. https:\/\/doi.org\/10.1007\/s10803-019-04301-9.","journal-title":"J Autism Dev Disord"},{"key":"1020_CR58","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1177\/088307389701200405","volume":"12","author":"HN Bawden","year":"1997","unstructured":"Bawden HN, MacDonald GW, Shea S. Treatment of children with Williams syndrome with methylphenidate. J Child Neurol. 1997;12:248\u201352. https:\/\/doi.org\/10.1177\/088307389701200405.","journal-title":"J Child Neurol"},{"key":"1020_CR59","doi-asserted-by":"publisher","first-page":"1700","DOI":"10.1016\/j.ridd.2013.02.015","volume":"34","author":"MA Martens","year":"2013","unstructured":"Martens MA, Seyfer DL, Andridge RR, Foster JEA, McClure KE, Coury DL. Caregiver survey of pharmacotherapy to treat attention deficit\/hyperactivity disorder in individuals with Williams syndrome. Res Dev Disabil. 2013;34:1700\u20139. https:\/\/doi.org\/10.1016\/j.ridd.2013.02.015.","journal-title":"Res Dev Disabil"},{"key":"1020_CR60","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1097\/DBP.0000000000000503","volume":"38","author":"MA Martens","year":"2017","unstructured":"Martens MA, Seyfer DL, Andridge RR, Coury DL. Use and effectiveness of sleep medications by parent report in individuals with Williams syndrome. J Dev Behav Pediatr. 2017;38:765\u201371. https:\/\/doi.org\/10.1097\/DBP.0000000000000503.","journal-title":"J Dev Behav Pediatr"},{"key":"1020_CR61","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1044\/lle18.3.98","volume":"18","author":"CB Mervis","year":"2011","unstructured":"Mervis CB, Velleman SL. Children with Williams syndrome: language, cognitive, and behavioral characteristics and their implications for intervention. Perspect Lang Learn Educ. 2011;18:98\u2013107. https:\/\/doi.org\/10.1044\/lle18.3.98.","journal-title":"Perspect Lang Learn Educ"},{"key":"1020_CR62","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1002\/ajmg.c.30257","volume":"154C","author":"LR Osborne","year":"2010","unstructured":"Osborne LR. Animal models of Williams syndrome. Am J Med Genet C Semin Med Genet. 2010;154C:209\u201319. https:\/\/doi.org\/10.1002\/ajmg.c.30257.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1020_CR63","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1101\/gr.214802","volume":"12","author":"U DeSilva","year":"2002","unstructured":"DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, Thomas JW, et al. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in williams syndrome. Genome Res. 2002;12:3\u201315. https:\/\/doi.org\/10.1101\/gr.214802.","journal-title":"Genome Res"},{"key":"1020_CR64","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1002\/emmm.200900003","volume":"1","author":"HH Li","year":"2009","unstructured":"Li HH, Roy M, Kuscuoglu U, Spencer CM, Halm B, Harrison KC, et al. Induced chromosome deletions cause hypersociability and other features of Williams\u2013Beuren syndrome in mice. EMBO Mol Med. 2009;1:50\u201365. https:\/\/doi.org\/10.1002\/emmm.200900003.","journal-title":"EMBO Mol Med"},{"key":"1020_CR65","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1038\/31729","volume":"393","author":"S Arber","year":"1998","unstructured":"Arber S, Barbayannis FA, Hanser H, Schneider C, Stanyon CA, Bernard O, et al. Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. Nature. 1998;393:805\u20139. https:\/\/doi.org\/10.1038\/31729.","journal-title":"Nature"},{"key":"1020_CR66","first-page":"1159","volume":"5","author":"O Bernard","year":"1994","unstructured":"Bernard O, Ganiatsas S, Kannourakis G, Dringen R. Kiz-1, a protein with LIM zinc finger and kinase domains, is expressed mainly in neurons. Cell Growth Differ Mol Biol J Am Assoc Cancer Res. 1994;5:1159\u201371.","journal-title":"Cell Growth Differ Mol Biol J Am Assoc Cancer Res"},{"key":"1020_CR67","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1038\/31735","volume":"393","author":"N Yang","year":"1998","unstructured":"Yang N, Higuchi O, Ohashi K, Nagata K, Wada A, Kangawa K, et al. Cofilin phosphorylation by LIM-kinase 1 and its role in rac-mediated actin reorganization. Nature. 1998;393:809\u201312. https:\/\/doi.org\/10.1038\/31735.","journal-title":"Nature"},{"key":"1020_CR68","doi-asserted-by":"publisher","first-page":"6481","DOI":"10.1093\/hmg\/ddu368","volume":"23","author":"M Segura-Puimedon","year":"2014","unstructured":"Segura-Puimedon M, Sah\u00fan I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, et al. Heterozygous deletion of the Williams\u2013Beuren syndrome critical interval in mice recapitulates most features of the human disorder. Hum Mol Genet. 2014;23:6481\u201394. https:\/\/doi.org\/10.1093\/hmg\/ddu368.","journal-title":"Hum Mol Genet"},{"key":"1020_CR69","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24043261","volume":"24","author":"N Abdalla","year":"2023","unstructured":"Abdalla N, Ortiz-Romero P, Rodriguez-Rovira I, P\u00e9rez-Jurado LA, Egea G, Campuzano V. The combined treatment of curcumin with verapamil ameliorates the cardiovascular pathology in a Williams\u2013Beuren syndrome mouse model. Int J Mol Sci. 2023;24:3261. https:\/\/doi.org\/10.3390\/ijms24043261.","journal-title":"Int J Mol Sci"},{"key":"1020_CR70","doi-asserted-by":"publisher","first-page":"1691","DOI":"10.1038\/mt.2015.130","volume":"23","author":"C Borralleras","year":"2015","unstructured":"Borralleras C, Sahun I, P\u00e9rez-Jurado LA, Campuzano V. Intracisternal Gtf2i gene therapy ameliorates deficits in cognition and synaptic plasticity of a mouse model of Williams\u2013Beuren syndrome. Mol Ther. 2015;23:1691\u20139. https:\/\/doi.org\/10.1038\/mt.2015.130.","journal-title":"Mol Ther"},{"key":"1020_CR71","doi-asserted-by":"publisher","DOI":"10.3390\/cells12030391","volume":"12","author":"S Giannoccaro","year":"2023","unstructured":"Giannoccaro S, Ferraguto C, Petroni V, Marcelly C, Nogues X, Campuzano V, et al. Early neurobehavioral characterization of the CD mouse model of Williams\u2013Beuren syndrome. Cells. 2023;12:391. https:\/\/doi.org\/10.3390\/cells12030391.","journal-title":"Cells"},{"key":"1020_CR72","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-57803-3","volume":"10","author":"F Jim\u00e9nez-Altay\u00f3","year":"2020","unstructured":"Jim\u00e9nez-Altay\u00f3 F, Ortiz-Romero P, Puertas-Umbert L, Dantas AP, P\u00e9rez B, Vila E, et al. Stenosis coexists with compromised \u03b11-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome. Sci Rep. 2020;10:889. https:\/\/doi.org\/10.1038\/s41598-020-57803-3.","journal-title":"Sci Rep"},{"key":"1020_CR73","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.72560","volume":"11","author":"A Navarro-Romero","year":"2022","unstructured":"Navarro-Romero A, Galera-L\u00f3pez L, Ortiz-Romero P, Llorente-Ovejero A, De Los Reyes-Ram\u00edrez L, Bengoetxea De Tena I, et al. Cannabinoid signaling modulation through JZL184 restores key phenotypes of a mouse model for williams\u2013beuren syndrome. Elife. 2022;11:e72560. https:\/\/doi.org\/10.7554\/eLife.72560.","journal-title":"Elife"},{"key":"1020_CR74","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12750","volume":"21","author":"KR Nygaard","year":"2022","unstructured":"Nygaard KR, Swift RG, Glick RM, Wagner RE, Maloney SE, Gould GG, et al. Oxytocin receptor activation does not mediate associative fear deficits in a Williams syndrome model. Genes Brain Behav. 2022;21:e12750. https:\/\/doi.org\/10.1111\/gbb.12750.","journal-title":"Genes Brain Behav"},{"key":"1020_CR75","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2021.670785","volume":"12","author":"P Ortiz-Romero","year":"2021","unstructured":"Ortiz-Romero P, Gonz\u00e1lez-Sim\u00f3n A, Egea G, P\u00e9rez-Jurado LA, Campuzano V. Co-treatment with verapamil and curcumin attenuates the behavioral alterations observed in Williams\u2013Beuren syndrome mice by regulation of MAPK pathway and microglia overexpression. Front Pharmacol. 2021;12:670785. https:\/\/doi.org\/10.3389\/fphar.2021.670785.","journal-title":"Front Pharmacol"},{"key":"1020_CR76","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1007\/s12519-024-00843-w","volume":"20","author":"A-J Cai","year":"2024","unstructured":"Cai A-J, Gao K, Zhang F, Jiang Y-W. Recent advances and current status of gene therapy for epilepsy. World J Pediatr. 2024;20:1115\u201337. https:\/\/doi.org\/10.1007\/s12519-024-00843-w.","journal-title":"World J Pediatr"},{"key":"1020_CR77","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1038\/ng.3169","volume":"47","author":"A Adamo","year":"2015","unstructured":"Adamo A, Atashpaz S, Germain PL, Zanella M, D\u2019Agostino G, Albertin V, et al. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. Nat Genet. 2015;47:132\u201341. https:\/\/doi.org\/10.1038\/ng.3169.","journal-title":"Nat Genet"},{"key":"1020_CR78","doi-asserted-by":"publisher","first-page":"2","DOI":"10.5966\/sctm.2012-0054","volume":"2","author":"C Kinnear","year":"2013","unstructured":"Kinnear C, Chang WY, Khattak S, Hinek A, Thompson T, De Carvalho Rodrigues D, et al. Modeling and rescue of the vascular phenotype of Williams-Beuren syndrome in patient induced pluripotent stem cells. Stem Cells Transl Med. 2013;2:2\u201315. https:\/\/doi.org\/10.5966\/sctm.2012-0054.","journal-title":"Stem Cells Transl Med"},{"key":"1020_CR79","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2020.102087","volume":"49","author":"B Kuebler","year":"2020","unstructured":"Kuebler B, Aran B, Flores R, P\u00e9rez-Jurado LA, Veiga A, Corominas R, et al. Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering williams-beuren syndrome (7q11.23 deletion). Stem Cell Res. 2020;49:102087. https:\/\/doi.org\/10.1016\/j.scr.2020.102087.","journal-title":"Stem Cell Res"},{"key":"1020_CR80","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1038\/nature19067","volume":"536","author":"T Chailangkarn","year":"2016","unstructured":"Chailangkarn T, Trujillo CA, Freitas BC, Hrvoj-Mihic B, Herai RH, Yu DX, et al. A human neurodevelopmental model for Williams syndrome. Nature. 2016;536:338\u201343. https:\/\/doi.org\/10.1038\/nature19067.","journal-title":"Nature"},{"key":"1020_CR81","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.98081","volume":"13","author":"X Zhao","year":"2024","unstructured":"Zhao X, Sun Q, Shou Y, Chen W, Wang M, Qu W, et al. A human forebrain organoid model reveals the essential function of GTF2IRD1-TTR-ERK axis for the neurodevelopmental deficits of williams syndrome. Elife. 2024;13:RP98081. https:\/\/doi.org\/10.7554\/eLife.98081.","journal-title":"Elife"},{"key":"1020_CR82","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-015-0168-0","volume":"8","author":"S Khattak","year":"2015","unstructured":"Khattak S, Brimble E, Zhang W, Zaslavsky K, Strong E, Ross PJ, et al. Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. Mol Brain. 2015;8:77. https:\/\/doi.org\/10.1186\/s13041-015-0168-0.","journal-title":"Mol Brain"},{"key":"1020_CR83","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1038\/ng.3169","volume":"47","author":"A Adamo","year":"2015","unstructured":"Adamo A, Atashpaz S, Germain P-L, Zanella M, D\u2019Agostino G, Albertin V, et al. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. Nat Genet. 2015;47:132\u201341. https:\/\/doi.org\/10.1038\/ng.3169.","journal-title":"Nat Genet"},{"key":"1020_CR84","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.adh2726","volume":"9","author":"A L\u00f3pez-Tob\u00f3n","year":"2023","unstructured":"L\u00f3pez-Tob\u00f3n A, Shyti R, Villa CE, Cheroni C, Fuentes-Bravo P, Trattaro S, et al. GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders. Sci Adv. 2023;9:eadh2726. https:\/\/doi.org\/10.1126\/sciadv.adh2726.","journal-title":"Sci Adv"},{"key":"1020_CR85","doi-asserted-by":"publisher","DOI":"10.1172\/jci168982","volume":"134","author":"M Mihailovich","year":"2024","unstructured":"Mihailovich M, Germain PL, Shyti R, Pozzi D, Noberini R, Liu Y, et al. Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability. J Clin Invest. 2024;134:e168982. https:\/\/doi.org\/10.1172\/jci168982.","journal-title":"J Clin Invest"},{"key":"1020_CR86","doi-asserted-by":"publisher","first-page":"3877","DOI":"10.1016\/j.cell.2022.08.022","volume":"185","author":"CM Davenport","year":"2022","unstructured":"Davenport CM, Teubner BJW, Han SB, Patton MH, Eom TY, Garic D, et al. Innate frequency-discrimination hyperacuity in williams-beuren syndrome mice. Cell. 2022;185:3877\u201395.e21. https:\/\/doi.org\/10.1016\/j.cell.2022.08.022.","journal-title":"Cell"},{"key":"1020_CR87","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1073\/pnas.0811531106","volume":"106","author":"B Enkhmandakh","year":"2009","unstructured":"Enkhmandakh B, Makeyev AV, Erdenechimeg L, Ruddle FH, Chimge N-O, Tussie-Luna MI, et al. Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci. 2009;106:181\u20136. https:\/\/doi.org\/10.1073\/pnas.0811531106.","journal-title":"Proc Natl Acad Sci"},{"key":"1020_CR88","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/S1567-133X(03)00155-8","volume":"4","author":"B Enkhmandakh","year":"2004","unstructured":"Enkhmandakh B, Bitchevaia N, Ruddle F, Bayarsaihan D. The early embryonic expression of TFII-I during mouse preimplantation development. Gene Expr Patterns. 2004;4:25\u20138. https:\/\/doi.org\/10.1016\/S1567-133X(03)00155-8.","journal-title":"Gene Expr Patterns"},{"key":"1020_CR89","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1016\/j.bbrc.2009.06.045","volume":"386","author":"AV Makeyev","year":"2009","unstructured":"Makeyev AV, Bayarsaihan D. New TFII-I family target genes involved in embryonic development. Biochem Biophys Res Commun. 2009;386:554\u20138. https:\/\/doi.org\/10.1016\/j.bbrc.2009.06.045.","journal-title":"Biochem Biophys Res Commun"},{"key":"1020_CR90","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.gene.2011.10.030","volume":"492","author":"AL Roy","year":"2012","unstructured":"Roy AL. Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10 years later. Gene. 2012;492:32\u201341. https:\/\/doi.org\/10.1016\/j.gene.2011.10.030.","journal-title":"Gene"},{"key":"1020_CR91","doi-asserted-by":"publisher","first-page":"10940","DOI":"10.1128\/MCB.25.24.10940-10952.2005","volume":"25","author":"ZP Desgranges","year":"2005","unstructured":"Desgranges ZP, Ahn J, Lazebnik MB, Ashworth T, Lee C, Pestell RC, et al. Inhibition of TFII-I-dependent cell cycle regulation by p53. Mol Cell Biol. 2005;25:10940\u201352. https:\/\/doi.org\/10.1128\/MCB.25.24.10940-10952.2005.","journal-title":"Mol Cell Biol"},{"key":"1020_CR92","doi-asserted-by":"publisher","first-page":"596","DOI":"10.4161\/cc.8.4.7728","volume":"8","author":"T Ashworth","year":"2009","unstructured":"Ashworth T, Roy AL. Phase specific functions of the transcription factor TFII-I during cell cycle. Cell Cycle. 2009;8:596\u2013605. https:\/\/doi.org\/10.4161\/cc.8.4.7728.","journal-title":"Cell Cycle"},{"key":"1020_CR93","doi-asserted-by":"publisher","first-page":"9006","DOI":"10.1073\/pnas.0803051105","volume":"105","author":"N-O Chimge","year":"2008","unstructured":"Chimge N-O, Makeyev AV, Ruddle FH, Bayarsaihan D. Identification of the TFII-I family target genes in the vertebrate genome. Proc Natl Acad Sci U S A. 2008;105:9006\u201310. https:\/\/doi.org\/10.1073\/pnas.0803051105.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1020_CR94","doi-asserted-by":"publisher","first-page":"12807","DOI":"10.1073\/pnas.192464499","volume":"99","author":"MI Tussi\u00e9-Luna","year":"2002","unstructured":"Tussi\u00e9-Luna MI, Bayarsaihan D, Seto E, Ruddle FH, Roy AL. Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASx\u03b2. Proc Natl Acad Sci U S A. 2002;99:12807\u201312. https:\/\/doi.org\/10.1073\/pnas.192464499.","journal-title":"Proc Natl Acad Sci USA"},{"key":"1020_CR95","doi-asserted-by":"publisher","first-page":"9","DOI":"10.2217\/epi.12.71","volume":"5","author":"D Bayarsaihan","year":"2013","unstructured":"Bayarsaihan D. What role does TFII-I have to play in epigenetic modulation during embryogenesis? Epigenomics. 2013;5:9\u201311. https:\/\/doi.org\/10.2217\/epi.12.71.","journal-title":"Epigenomics"},{"key":"1020_CR96","doi-asserted-by":"publisher","first-page":"2588","DOI":"10.1110\/ps.04747604","volume":"13","author":"TA Hinsley","year":"2004","unstructured":"Hinsley TA, Cunliffe P, Tipney HJ, Brass A, Tassabehji M. Comparison of TFII\u2010I gene family members deleted in Williams\u2010Beuren syndrome. Protein Sci. 2004;13:2588\u201399. https:\/\/doi.org\/10.1110\/ps.04747604.","journal-title":"Protein Sci"},{"key":"1020_CR97","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1136\/jmg.2009.071712","volume":"47","author":"A Antonell","year":"2010","unstructured":"Antonell A, Del Campo M, Magano LF, Kaufmann L, Mart\u00ednez De La Iglesia J, Gallastegui F, et al. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the williams\u2013beuren syndrome neurocognitive profile. J Med Genet. 2010;47:312\u201320. https:\/\/doi.org\/10.1136\/jmg.2009.071712.","journal-title":"J Med Genet"},{"key":"1020_CR98","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1038\/ejhg.2009.108","volume":"18","author":"GB Ferrero","year":"2010","unstructured":"Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, et al. An atypical 7q11.23 deletion in a normal IQ williams\u2013beuren syndrome patient. Eur J Hum Genet. 2010;18:33\u20138. https:\/\/doi.org\/10.1038\/ejhg.2009.108.","journal-title":"Eur J Hum Genet"},{"key":"1020_CR99","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1136\/jmg.40.7.526","volume":"40","author":"C Gagliardi","year":"2003","unstructured":"Gagliardi C, Bonaglia MC, Selicorni A, Borgatti R, Giorda R. Unusual cognitive and behavioural profile in a williams syndrome patient with atypical 7q11.23 deletion. J Med Genet. 2003;40:526\u201330. https:\/\/doi.org\/10.1136\/jmg.40.7.526.","journal-title":"J Med Genet"},{"key":"1020_CR100","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0104088","volume":"9","author":"F Hoeft","year":"2014","unstructured":"Hoeft F, Dai L, Haas BW, Sheau K, Mimura M, Mills D, et al. Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome. PLoS One. 2014;9:e104088. https:\/\/doi.org\/10.1371\/journal.pone.0104088.","journal-title":"PLoS One"},{"key":"1020_CR101","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/j.jgg.2012.07.001","volume":"39","author":"RS Honjo","year":"2012","unstructured":"Honjo RS, Dutra RL, Nunes MM, Gomy I, Kulikowski LD, Jehee FS, et al. Atypical deletion in williams\u2013beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty. J Genet Genomics. 2012;39:571\u20134. https:\/\/doi.org\/10.1016\/j.jgg.2012.07.001.","journal-title":"J Genet Genomics"},{"key":"1020_CR102","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyg.2012.00168","author":"A Karmiloff-Smith","year":"2012","unstructured":"Karmiloff-Smith A, Broadbent H, Farran EK, Longhi E, D\u2019Souza D, Metcalfe K, et al. Social cognition in williams syndrome: genotype\/phenotype insights from partial deletion patients. Front Psychol. 2012. https:\/\/doi.org\/10.3389\/fpsyg.2012.00168.","journal-title":"Front Psychol"},{"key":"1020_CR103","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1080\/87565641.2013.825617","volume":"38","author":"DL Mills","year":"2013","unstructured":"Mills DL, Dai L, Fishman I, Yam A, Appelbaum LG, St. George M, et al. Genetic mapping of brain plasticity across development in Williams syndrome: ERP markers of face and language processing. Dev Neuropsychol. 2013;38:613\u201342. https:\/\/doi.org\/10.1080\/87565641.2013.825617.","journal-title":"Dev Neuropsychol"},{"key":"1020_CR104","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s41252-019-00128-8","volume":"4","author":"R Ng","year":"2020","unstructured":"Ng R, Fillet P, Bellugi U. Empathy in Williams syndrome: clues from typical and atypical deletion of 7q11.23. Adv Neurodev Disord. 2020;4:97\u2013101. https:\/\/doi.org\/10.1007\/s41252-019-00128-8.","journal-title":"Adv Neurodev Disord"},{"key":"1020_CR105","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.nbd.2006.12.009","volume":"26","author":"JM Van Hagen","year":"2007","unstructured":"Van Hagen JM, Van Der Geest JN, Van Der Giessen RS, Lagers-van Haselen GC, Eussen HJFMM, Gille JJP, et al. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in williams syndrome. Neurobiol Dis. 2007;26:112\u201324. https:\/\/doi.org\/10.1016\/j.nbd.2006.12.009.","journal-title":"Neurobiol Dis"},{"key":"1020_CR106","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2024.113867","volume":"43","author":"JW Adams","year":"2024","unstructured":"Adams JW, Vinokur A, de Souza JS, Austria C, Guerra BS, Herai RH, et al. Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment. Cell Rep. 2024;43:113867. https:\/\/doi.org\/10.1016\/j.celrep.2024.113867.","journal-title":"Cell Rep"},{"key":"1020_CR107","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1002\/aur.169","volume":"4","author":"T Sakurai","year":"2011","unstructured":"Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD. Haploinsufficiency of Gtf2i, a gene deleted in williams syndrome, leads to increases in social interactions. Autism Res. 2011;4:28\u201339. https:\/\/doi.org\/10.1002\/aur.169.","journal-title":"Autism Res"},{"key":"1020_CR108","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-61","volume":"11","author":"J Lucena","year":"2010","unstructured":"Lucena J, Pezzi S, Aso E, Valero MC, Carreiro C, Dubus P, et al. Essential role of the N-terminal region of TFII-I in viability and behavior. BMC Med Genet. 2010;11:61. https:\/\/doi.org\/10.1186\/1471-2350-11-61.","journal-title":"BMC Med Genet"},{"key":"1020_CR109","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1002\/dvg.22948","volume":"54","author":"B Enkhmandakh","year":"2016","unstructured":"Enkhmandakh B, Stoddard C, Mack K, He W, Kaback D, Yee S, et al. Generation of a mouse model for a conditional inactivation of gtf2i allele. Genesis. 2016;54:407\u201312. https:\/\/doi.org\/10.1002\/dvg.22948.","journal-title":"Genesis"},{"key":"1020_CR110","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1038\/s41593-019-0380-9","volume":"22","author":"B Barak","year":"2019","unstructured":"Barak B, Zhang Z, Liu Y, Nir A, Trangle SS, Ennis M, et al. Neuronal deletion of gtf2i, associated with williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nat Neurosci. 2019;22:700\u20138. https:\/\/doi.org\/10.1038\/s41593-019-0380-9.","journal-title":"Nat Neurosci"},{"key":"1020_CR111","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1002\/glia.24519","volume":"72","author":"E Bar","year":"2024","unstructured":"Bar E, Fischer I, Rokach M, Elad\u2010Sfadia G, Shirenova S, Ophir O, et al. Neuronal deletion of gtf2i results in developmental microglial alterations in a mouse model related to williams syndrome. Glia. 2024;72:1117\u201335. https:\/\/doi.org\/10.1002\/glia.24519.","journal-title":"Glia"},{"key":"1020_CR112","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/S1567-133X(03)00118-2","volume":"3","author":"D Bayarsaihan","year":"2003","unstructured":"Bayarsaihan D, Bitchevaia N, Enkhmandakh B, Tussie-Luna MI, Leckman JF, Roy A, et al. Expression of BEN, a member of TFII-I family of transcription factors, during mouse pre- and postimplantation development. Gene Expr Patterns. 2003;3:579\u201389. https:\/\/doi.org\/10.1016\/S1567-133X(03)00118-2.","journal-title":"Gene Expr Patterns"},{"key":"1020_CR113","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/j.modgep.2006.11.008","volume":"7","author":"SJ Palmer","year":"2007","unstructured":"Palmer SJ, Tay ESE, Santucci N, Cuc Bach TT, Hook J, Lemckert FA, et al. Expression of gtf2ird1, the williams syndrome-associated gene, during mouse development. Gene Expr Patterns. 2007;7:396\u2013404. https:\/\/doi.org\/10.1016\/j.modgep.2006.11.008.","journal-title":"Gene Expr Patterns"},{"key":"1020_CR114","doi-asserted-by":"publisher","first-page":"1498","DOI":"10.1093\/hmg\/ddaa070","volume":"29","author":"ND Kopp","year":"2020","unstructured":"Kopp ND, Nygaard KR, Liu Y, McCullough KB, Maloney SE, Gabel HW, et al. Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences. Hum Mol Genet. 2020;29:1498\u2013519. https:\/\/doi.org\/10.1093\/hmg\/ddaa070.","journal-title":"Hum Mol Genet"},{"key":"1020_CR115","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1006\/geno.2001.6507","volume":"73","author":"ME Durkin","year":"2001","unstructured":"Durkin ME, Keck-Waggoner CL, Popescu NC, Thorgeirsson SS. Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in williams\u2013beuren syndrome. Genomics. 2001;73:20\u20137. https:\/\/doi.org\/10.1006\/geno.2001.6507.","journal-title":"Genomics"},{"key":"1020_CR116","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1111\/j.1601-183X.2007.00343.x","volume":"7","author":"EJ Young","year":"2008","unstructured":"Young EJ, Lipina T, Tam E, Mandel A, Clapcote SJ, Bechard AR, et al. Reduced fear and aggression and altered serotonin metabolism in gtf2ird1 \u2010targeted mice. Genes Brain Behav. 2008;7:224\u201334. https:\/\/doi.org\/10.1111\/j.1601-183X.2007.00343.x.","journal-title":"Genes Brain Behav"},{"key":"1020_CR117","doi-asserted-by":"publisher","first-page":"4715","DOI":"10.1074\/jbc.M109.086660","volume":"285","author":"SJ Palmer","year":"2010","unstructured":"Palmer SJ, Santucci N, Widagdo J, Bontempo SJ, Taylor KM, Tay ESE, et al. Negative autoregulation of GTF2IRD1 in williams-beuren syndrome via a novel DNA binding mechanism. J Biol Chem. 2010;285:4715\u201324. https:\/\/doi.org\/10.1074\/jbc.M109.086660.","journal-title":"J Biol Chem"},{"key":"1020_CR118","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1016\/j.nbd.2011.12.010","volume":"45","author":"ML Howard","year":"2012","unstructured":"Howard ML, Palmer SJ, Taylor KM, Arthurson GJ, Spitzer MW, Du X, et al. Mutation of gtf2ird1 from the williams\u2013beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations. Neurobiol Dis. 2012;45:913\u201322. https:\/\/doi.org\/10.1016\/j.nbd.2011.12.010.","journal-title":"Neurobiol Dis"},{"key":"1020_CR119","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1016\/j.bbr.2012.05.014","volume":"233","author":"T Schneider","year":"2012","unstructured":"Schneider T, Skitt Z, Liu Y, Deacon RMJ, Flint J, Karmiloff-Smith A, et al. Anxious, hypoactive phenotype combined with motor deficits in gtf2ird1 null mouse model relevant to williams syndrome. Behav Brain Res. 2012;233:458\u201373. https:\/\/doi.org\/10.1016\/j.bbr.2012.05.014.","journal-title":"Behav Brain Res"},{"key":"1020_CR120","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1126\/science.1116142","volume":"310","author":"M Tassabehji","year":"2005","unstructured":"Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, et al. GTF2IRD1 in craniofacial development of humans and mice. Science. 2005;310:1184\u20137. https:\/\/doi.org\/10.1126\/science.1116142.","journal-title":"Science"},{"key":"1020_CR121","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1093\/hmg\/ddz176","volume":"28","author":"N Kopp","year":"2019","unstructured":"Kopp N, McCullough K, Maloney SE, Dougherty JD. Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the williams syndrome critical region in mouse models. Hum Mol Genet. 2019;28:3443\u201365. https:\/\/doi.org\/10.1093\/hmg\/ddz176.","journal-title":"Hum Mol Genet"},{"key":"1020_CR122","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12853","volume":"22","author":"KR Nygaard","year":"2023","unstructured":"Nygaard KR, Maloney SE, Swift RG, McCullough KB, Wagner RE, Fass SB, et al. Extensive characterization of a williams syndrome murine model shows gtf2ird1 \u2010mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior. Genes Brain Behav. 2023;22:e12853. https:\/\/doi.org\/10.1111\/gbb.12853.","journal-title":"Genes Brain Behav"},{"key":"1020_CR123","doi-asserted-by":"publisher","first-page":"5040","DOI":"10.1242\/jcs.102798","volume":"125","author":"SJ Palmer","year":"2012","unstructured":"Palmer SJ, Taylor KM, Santucci N, Widagdo J, Chan YKA, Yeo JL, et al. GTF2IRD2 from the williams-beuren critical region encodes a mobile element-derived fusion protein that antagonizes the action of its related family members. J Cell Sci. 2012;125:5040\u201350. https:\/\/doi.org\/10.1242\/jcs.102798.","journal-title":"J Cell Sci"},{"key":"1020_CR124","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1016\/j.biocel.2006.11.011","volume":"39","author":"O Bernard","year":"2007","unstructured":"Bernard O. Lim kinases, regulators of actin dynamics. Int J Biochem Cell Biol. 2007;39:1071\u20136. https:\/\/doi.org\/10.1016\/j.biocel.2006.11.011.","journal-title":"Int J Biochem Cell Biol"},{"key":"1020_CR125","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/S0092-8674(00)80077-X","volume":"86","author":"JM Frangiskakis","year":"1996","unstructured":"Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, et al. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell. 1996;86:59\u201369. https:\/\/doi.org\/10.1016\/S0092-8674(00)80077-X.","journal-title":"Cell"},{"key":"1020_CR126","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1002\/ajmg.a.20496","volume":"123A","author":"CA Morris","year":"2003","unstructured":"Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, et al. GTF2I hemizygosity implicated in mental retardation in williams syndrome: genotype\u2013phenotype analysis of five families with deletions in the williams syndrome region. Am J Med Genet A. 2003;123A:45\u201359. https:\/\/doi.org\/10.1002\/ajmg.a.20496.","journal-title":"Am J Med Genet A"},{"key":"1020_CR127","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/S0896-6273(02)00758-4","volume":"35","author":"Y Meng","year":"2002","unstructured":"Meng Y, Zhang Y, Tregoubov V, Janus C, Cruz L, Jackson M, et al. Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice. Neuron. 2002;35:121\u201333. https:\/\/doi.org\/10.1016\/S0896-6273(02)00758-4.","journal-title":"Neuron"},{"key":"1020_CR128","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-019-0487-7","volume":"12","author":"R Mao","year":"2019","unstructured":"Mao R, Deng R, Wei Y, Han L, Meng Y, Xie W, et al. LIMK1 and LIMK2 regulate cortical development through affecting neural progenitor cell proliferation and migration. Mol Brain. 2019;12:67. https:\/\/doi.org\/10.1186\/s13041-019-0487-7.","journal-title":"Mol Brain"},{"key":"1020_CR129","doi-asserted-by":"publisher","first-page":"15430","DOI":"10.1523\/JNEUROSCI.4117-10.2010","volume":"30","author":"KD Phan","year":"2010","unstructured":"Phan KD, Hazen VM, Frendo M, Jia Z, Butler SJ. The bone morphogenetic protein roof plate chemorepellent regulates the rate of commissural axonal growth. J Neurosci. 2010;30:15430\u201340. https:\/\/doi.org\/10.1523\/JNEUROSCI.4117-10.2010.","journal-title":"J Neurosci"},{"key":"1020_CR130","doi-asserted-by":"publisher","first-page":"9316","DOI":"10.1523\/JNEUROSCI.0648-19.2019","volume":"39","author":"ME Frendo","year":"2019","unstructured":"Frendo ME, Da Silva A, Phan KD, Riche S, Butler SJ. The cofilin\/Limk1 pathway controls the growth rate of both developing and regenerating motor axons. J Neurosci. 2019;39:9316\u201327. https:\/\/doi.org\/10.1523\/JNEUROSCI.0648-19.2019.","journal-title":"J Neurosci"},{"key":"1020_CR131","doi-asserted-by":"publisher","first-page":"1316","DOI":"10.1128\/MCB.01263-14","volume":"35","author":"Z Todorovski","year":"2015","unstructured":"Todorovski Z, Asrar S, Liu J, Saw NMN, Joshi K, Cortez MA, et al. LIMK1 regulates long-term memory and synaptic plasticity via the transcriptional factor CREB. Mol Cell Biol. 2015;35:1316\u201328. https:\/\/doi.org\/10.1128\/MCB.01263-14.","journal-title":"Mol Cell Biol"},{"key":"1020_CR132","first-page":"1951","volume":"14","author":"M Gorovoy","year":"2008","unstructured":"Gorovoy M, Koga T, Shen X, Jia Z, Yue BY, Voyno-Yasenetskaya T. Downregulation of LIM kinase 1 suppresses ocular inflammation and fibrosis. Mol Vis. 2008;14:1951\u20139.","journal-title":"Mol Vis"},{"key":"1020_CR133","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1161\/CIRCRESAHA.109.195883","volume":"105","author":"M Gorovoy","year":"2009","unstructured":"Gorovoy M, Han J, Pan H, Welch E, Neamu R, Jia Z, et al. LIM kinase 1 promotes endothelial barrier disruption and neutrophil infiltration in mouse lungs. Circ Res. 2009;105:549\u201356. https:\/\/doi.org\/10.1161\/CIRCRESAHA.109.195883.","journal-title":"Circ Res"},{"key":"1020_CR134","doi-asserted-by":"publisher","first-page":"4586","DOI":"10.1182\/blood-2012-12-470765","volume":"121","author":"B Estevez","year":"2013","unstructured":"Estevez B, Stojanovic-Terpo A, Delaney MK, O\u2019Brien KA, Berndt MC, Ruan C, et al. LIM kinase-1 selectively promotes glycoprotein ib-IX-mediated TXA2 synthesis, platelet activation, and thrombosis. Blood. 2013;121:4586\u201394. https:\/\/doi.org\/10.1182\/blood-2012-12-470765.","journal-title":"Blood"},{"key":"1020_CR135","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1182\/blood-2015-04-638387","volume":"127","author":"B Estevez","year":"2016","unstructured":"Estevez B, Kim K, Delaney MK, Stojanovic-Terpo A, Shen B, Ruan C, et al. Signaling-mediated cooperativity between glycoprotein ib-IX and protease-activated receptors in thrombin-induced platelet activation. Blood. 2016;127:626\u201336. https:\/\/doi.org\/10.1182\/blood-2015-04-638387.","journal-title":"Blood"},{"key":"1020_CR136","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1016\/S0896-6273(00)80411-0","volume":"19","author":"CI De Zeeuw","year":"1997","unstructured":"De Zeeuw CI, Hoogenraad CC, Goedknegt E, Hertzberg E, Neubauer A, Grosveld F, et al. CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies. Neuron. 1997;19:1187\u201399. https:\/\/doi.org\/10.1016\/S0896-6273(00)80411-0.","journal-title":"Neuron"},{"key":"1020_CR137","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1016\/j.ajhg.2012.04.020","volume":"90","author":"G Vandeweyer","year":"2012","unstructured":"Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the williams-beuren syndrome. Am J Hum Genet. 2012;90:1071\u20138. https:\/\/doi.org\/10.1016\/j.ajhg.2012.04.020.","journal-title":"Am J Hum Genet"},{"key":"1020_CR138","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1038\/ng954","volume":"32","author":"CC Hoogenraad","year":"2002","unstructured":"Hoogenraad CC, Koekkoek B, Akhmanova A, Krugers H, Dortland B, Miedema M, et al. Targeted mutation of Cyln2 in the williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Nat Genet. 2002;32:116\u201327. https:\/\/doi.org\/10.1038\/ng954.","journal-title":"Nat Genet"},{"key":"1020_CR139","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1016\/j.cub.2010.04.024","volume":"20","author":"T Stepanova","year":"2010","unstructured":"Stepanova T, Smal I, van Haren J, Akinci U, Liu Z, Miedema M, et al. History-dependent catastrophes regulate axonal microtubule behavior. Curr Biol. 2010;20:1023\u20138. https:\/\/doi.org\/10.1016\/j.cub.2010.04.024.","journal-title":"Curr Biol"},{"key":"1020_CR140","doi-asserted-by":"publisher","first-page":"5908","DOI":"10.1128\/MCB.00269-06","volume":"26","author":"KT Kishida","year":"2006","unstructured":"Kishida KT, Hoeffer CA, Hu D, Pao M, Holland SM, Klann E. Synaptic plasticity deficits and mild memory impairments in mouse models of chronic granulomatous disease. Mol Cell Biol. 2006;26:5908\u201320. https:\/\/doi.org\/10.1128\/MCB.00269-06.","journal-title":"Mol Cell Biol"},{"key":"1020_CR141","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1016\/j.ajpath.2011.12.008","volume":"180","author":"S Capossela","year":"2012","unstructured":"Capossela S, Muzio L, Bertolo A, Bianchi V, Dati G, Chaabane L, et al. Growth defects and impaired cognitive\u2013behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the williams-beuren syndrome critical region. Am J Pathol. 2012;180:1121\u201335. https:\/\/doi.org\/10.1016\/j.ajpath.2011.12.008.","journal-title":"Am J Pathol"},{"key":"1020_CR142","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007432","volume":"14","author":"O Ros","year":"2018","unstructured":"Ros O, Barrecheguren PJ, Cotrufo T, Schaettin M, Rosell\u00f3-Busquets C, V\u00edlchez-Acosta A, et al. A conserved role for syntaxin-1 in pre- and post-commissural midline axonal guidance in fly, chick, and mouse. PLoS Genet. 2018;14:e1007432. https:\/\/doi.org\/10.1371\/journal.pgen.1007432.","journal-title":"PLoS Genet"},{"key":"1020_CR143","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1016\/j.cell.2018.09.014","volume":"175","author":"ATN Tebbenkamp","year":"2018","unstructured":"Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, et al. The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development. Cell. 2018;175:1088-104.e23. https:\/\/doi.org\/10.1016\/j.cell.2018.09.014.","journal-title":"Cell"},{"key":"1020_CR144","doi-asserted-by":"publisher","first-page":"2917","DOI":"10.1242\/dev.01871","volume":"132","author":"C Zhao","year":"2005","unstructured":"Zhao C, Avil\u00e9s C, Abel RA, Almli CR, McQuillen P, Pleasure SJ. Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the williams syndrome deletion interval. Development. 2005;132:2917\u201327. https:\/\/doi.org\/10.1242\/dev.01871.","journal-title":"Development"},{"key":"1020_CR145","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1002\/glia.23565","volume":"67","author":"T Zhang","year":"2019","unstructured":"Zhang T, Chen P, Li W, Sha S, Wang Y, Yuan Z, et al. Cognitive deficits in mice lacking Nsun5, a cytosine\u20105 RNA methyltransferase, with impairment of oligodendrocyte precursor cells. Glia. 2019;67:688\u2013702. https:\/\/doi.org\/10.1002\/glia.23565.","journal-title":"Glia"},{"key":"1020_CR146","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1002\/ajmg.a.61937","volume":"185","author":"V Alesi","year":"2021","unstructured":"Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, et al. Atypical 7q11.23 deletions excluding ELN gene result in Williams\u2013Beuren syndrome craniofacial features and neurocognitive profile. Am J Med Genet A. 2021;185:242\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.61937.","journal-title":"Am J Med Genet A"},{"key":"1020_CR147","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1136\/jmg.2006.044537","volume":"44","author":"L Edelmann","year":"2006","unstructured":"Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, et al. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet. 2006;44:136\u201343. https:\/\/doi.org\/10.1136\/jmg.2006.044537.","journal-title":"J Med Genet"},{"key":"1020_CR148","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/ejhg.2013.101","volume":"22","author":"C Fusco","year":"2014","unstructured":"Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, et al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur J Hum Genet. 2014;22:64\u201370. https:\/\/doi.org\/10.1038\/ejhg.2013.101.","journal-title":"Eur J Hum Genet"},{"key":"1020_CR149","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/j.ajhg.2010.10.019","volume":"87","author":"MB Ramocki","year":"2010","unstructured":"Ramocki MB, Bartnik M, Szafranski P, Ko\u0142odziejska KE, Xia Z, Bravo J, et al. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010;87:857\u201365. https:\/\/doi.org\/10.1016\/j.ajhg.2010.10.019.","journal-title":"Am J Hum Genet"},{"key":"1020_CR150","doi-asserted-by":"publisher","first-page":"3254","DOI":"10.1093\/emboj\/cdg334","volume":"22","author":"M Metzler","year":"2003","unstructured":"Metzler M. Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking. EMBO J. 2003;22:3254\u201366. https:\/\/doi.org\/10.1093\/emboj\/cdg334.","journal-title":"EMBO J"},{"key":"1020_CR151","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-36731-3","volume":"9","author":"M Castro Dias","year":"2019","unstructured":"Castro Dias M, Coisne C, Lazarevic I, Baden P, Hata M, Iwamoto N, et al. Claudin-3-deficient C57BL\/6J mice display intact brain barriers. Sci Rep. 2019;9:203. https:\/\/doi.org\/10.1038\/s41598-018-36731-3.","journal-title":"Sci Rep"},{"key":"1020_CR152","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1007\/s00401-013-1227-1","volume":"128","author":"G Kooij","year":"2014","unstructured":"Kooij G, Kopplin K, Blasig R, Stuiver M, Koning N, Goverse G, et al. Disturbed function of the blood\u2013cerebrospinal fluid barrier aggravates neuro-inflammation. Acta Neuropathol (Berl). 2014;128:267\u201377. https:\/\/doi.org\/10.1007\/s00401-013-1227-1.","journal-title":"Acta Neuropathol (Berl)"},{"key":"1020_CR153","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1126\/science.1083022","volume":"300","author":"MA Crackower","year":"2003","unstructured":"Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, et al. Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Science. 2003;300:1291\u20135. https:\/\/doi.org\/10.1126\/science.1083022.","journal-title":"Science"},{"key":"1020_CR154","doi-asserted-by":"publisher","first-page":"2210","DOI":"10.1093\/brain\/awx142","volume":"140","author":"A McGirr","year":"2017","unstructured":"McGirr A, LeDue J, Chan AW, Xie Y, Murphy TH. Cortical functional hyperconnectivity in a mouse model of depression and selective network effects of ketamine. Brain. 2017;140:2210\u201325. https:\/\/doi.org\/10.1093\/brain\/awx142.","journal-title":"Brain"},{"key":"1020_CR155","doi-asserted-by":"publisher","first-page":"1842","DOI":"10.7150\/thno.104282","volume":"15","author":"X Wang","year":"2025","unstructured":"Wang X, Wei H, Hu Z, Jiang J, Dong X, Zhu J, et al. Chronic stress induces depression through MDGA1-Neuroligin2 mediated suppression of inhibitory synapses in the lateral habenula. Theranostics. 2025;15:1842\u201363. https:\/\/doi.org\/10.7150\/thno.104282.","journal-title":"Theranostics"},{"key":"1020_CR156","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1007\/s12264-023-01171-1","volume":"40","author":"X Wang","year":"2024","unstructured":"Wang X, Lin D, Jiang J, Liu Y, Dong X, Fan J, et al. MDGA2 constrains glutamatergic inputs selectively onto CA1 pyramidal neurons to optimize neural circuits for plasticity, memory, and social behavior. Neurosci Bull. 2024;40:887\u2013904. https:\/\/doi.org\/10.1007\/s12264-023-01171-1.","journal-title":"Neurosci Bull"},{"key":"1020_CR157","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.tins.2013.12.001","volume":"37","author":"AM Smith","year":"2014","unstructured":"Smith AM, Dragunow M. The human side of microglia. Trends Neurosci. 2014;37:125\u201335. https:\/\/doi.org\/10.1016\/j.tins.2013.12.001.","journal-title":"Trends Neurosci"},{"key":"1020_CR158","doi-asserted-by":"publisher","DOI":"10.1080\/23262133.2017.1283187","volume":"4","author":"T Chailangkarn","year":"2017","unstructured":"Chailangkarn T, Muotri AR. Modeling williams syndrome with induced pluripotent stem cells. Neurogenesis. 2017;4:e1283187. https:\/\/doi.org\/10.1080\/23262133.2017.1283187.","journal-title":"Neurogenesis"},{"key":"1020_CR159","doi-asserted-by":"publisher","first-page":"1496","DOI":"10.1038\/s41593-020-00730-3","volume":"23","author":"I Chiaradia","year":"2020","unstructured":"Chiaradia I, Lancaster MA. Brain organoids for the study of human neurobiology at the interface of in vitro and in vivo. Nat Neurosci. 2020;23:1496\u2013508. https:\/\/doi.org\/10.1038\/s41593-020-00730-3.","journal-title":"Nat Neurosci"},{"key":"1020_CR160","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1038\/s41380-022-01892-1","volume":"28","author":"W Zhang","year":"2023","unstructured":"Zhang W, Jiang J, Xu Z, Yan H, Tang B, Liu C, et al. Microglia-containing human brain organoids for the study of brain development and pathology. Mol Psychiatry. 2023;28:96\u2013107. https:\/\/doi.org\/10.1038\/s41380-022-01892-1.","journal-title":"Mol Psychiatry"},{"key":"1020_CR161","doi-asserted-by":"publisher","DOI":"10.3390\/cells10082036","volume":"10","author":"Y Ahn","year":"2021","unstructured":"Ahn Y, An JH, Yang HJ, Lee DG, Kim J, Koh H, et al. Human blood vessel organoids penetrate human cerebral organoids and form a vessel-like system. Cells. 2021;10:2036. https:\/\/doi.org\/10.3390\/cells10082036.","journal-title":"Cells"},{"key":"1020_CR162","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.1016\/j.cell.2023.04.022","volume":"186","author":"ST Schafer","year":"2023","unstructured":"Schafer ST, Mansour AA, Schlachetzki JCM, Pena M, Ghassemzadeh S, Mitchell L, et al. An in vivo neuroimmune organoid model to study human microglia phenotypes. Cell. 2023;186:2111\u201326.e20. https:\/\/doi.org\/10.1016\/j.cell.2023.04.022.","journal-title":"Cell"},{"key":"1020_CR163","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.semcdb.2022.10.001","volume":"144","author":"G Saorin","year":"2023","unstructured":"Saorin G, Caligiuri I, Rizzolio F. Microfluidic organoids-on-a-chip: the future of human models. Semin Cell Dev Biol. 2023;144:41\u201354. https:\/\/doi.org\/10.1016\/j.semcdb.2022.10.001.","journal-title":"Semin Cell Dev Biol"},{"key":"1020_CR164","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.1701233","volume":"3","author":"BM vonHoldt","year":"2017","unstructured":"vonHoldt BM, Cahill JA, Gronau I, Shapiro B, Wall J, Wayne RK. Response to Hohenlohe et al. Sci Adv. 2017;3:e1701233. https:\/\/doi.org\/10.1126\/sciadv.1701233.","journal-title":"Sci Adv"},{"key":"1020_CR165","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/npp.2008.150","volume":"34","author":"EE Nelson","year":"2009","unstructured":"Nelson EE, Winslow JT. Non-human primates: model animals for developmental psychopathology. Neuropsychopharmacology. 2009;34:90\u2013105. https:\/\/doi.org\/10.1038\/npp.2008.150.","journal-title":"Neuropsychopharmacology"},{"key":"1020_CR166","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.039982","volume":"12","author":"Y Kang","year":"2019","unstructured":"Kang Y, Chu C, Wang F, Niu Y. CRISPR\/Cas9-mediated genome editing in nonhuman primates. Dis Model Mech. 2019;12:dmm039982. https:\/\/doi.org\/10.1242\/dmm.039982.","journal-title":"Dis Model Mech"},{"key":"1020_CR167","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1038\/s10038-017-0351-5","volume":"63","author":"K Sato","year":"2018","unstructured":"Sato K, Sasaki E. Genetic engineering in nonhuman primates for human disease modeling. J Hum Genet. 2018;63:125\u201331. https:\/\/doi.org\/10.1038\/s10038-017-0351-5.","journal-title":"J Hum Genet"},{"key":"1020_CR168","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.neubiorev.2016.03.016","volume":"65","author":"T Asakawa","year":"2016","unstructured":"Asakawa T, Fang H, Sugiyama K, Nozaki T, Hong Z, Yang Y, et al. Animal behavioral assessments in current research of parkinson\u2019s disease. Neurosci Biobehav Rev. 2016;65:63\u201394. https:\/\/doi.org\/10.1016\/j.neubiorev.2016.03.016.","journal-title":"Neurosci Biobehav Rev"},{"key":"1020_CR169","doi-asserted-by":"publisher","first-page":"1000","DOI":"10.1016\/j.neuron.2020.09.001","volume":"107","author":"G Brancati","year":"2020","unstructured":"Brancati G, Treutlein B, Camp JG. Resolving neurodevelopmental and vision disorders using organoid single-cell multi-omics. Neuron. 2020;107:1000\u201313. https:\/\/doi.org\/10.1016\/j.neuron.2020.09.001.","journal-title":"Neuron"},{"key":"1020_CR170","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2025.102548","volume":"95","author":"M Inayatullah","year":"2025","unstructured":"Inayatullah M, Dwivedi AK, Tiwari VK. Advances in single-cell omics: transformative applications in basic and clinical research. Curr Opin Cell Biol. 2025;95:102548. https:\/\/doi.org\/10.1016\/j.ceb.2025.102548.","journal-title":"Curr Opin Cell Biol"},{"key":"1020_CR171","doi-asserted-by":"publisher","first-page":"1269","DOI":"10.1007\/s11064-022-03839-y","volume":"48","author":"C Xin","year":"2023","unstructured":"Xin C, Guan X, Wang L, Liu J. Integrative multi-omics research in cerebral palsy: current progress and future prospects. Neurochem Res. 2023;48:1269\u201379. https:\/\/doi.org\/10.1007\/s11064-022-03839-y.","journal-title":"Neurochem Res"},{"key":"1020_CR172","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1038\/s41582-018-0010-2","volume":"14","author":"A Almad","year":"2018","unstructured":"Almad A, Maragakis NJ. A stocked toolbox for understanding the role of astrocytes in disease. Nat Rev Neurol. 2018;14:351\u201362. https:\/\/doi.org\/10.1038\/s41582-018-0010-2.","journal-title":"Nat Rev Neurol"},{"key":"1020_CR173","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1016\/j.tibtech.2019.05.009","volume":"37","author":"Z Shiri","year":"2019","unstructured":"Shiri Z, Simorgh S, Naderi S, Baharvand H. Optogenetics in the era of cerebral organoids. Trends Biotechnol. 2019;37:1282\u201394. https:\/\/doi.org\/10.1016\/j.tibtech.2019.05.009.","journal-title":"Trends Biotechnol"},{"key":"1020_CR174","doi-asserted-by":"publisher","DOI":"10.3390\/cells11010158","volume":"11","author":"M Grad","year":"2022","unstructured":"Grad M, Nir A, Levy G, Trangle SS, Shapira G, Shomron N, et al. Altered white matter and microRNA expression in a murine model related to Williams syndrome suggests that miR-34b\/c affects brain development via ptpru and dcx modulation. Cells. 2022;11:158. https:\/\/doi.org\/10.3390\/cells11010158.","journal-title":"Cells"},{"key":"1020_CR175","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-025-63500-4","volume":"16","author":"G Levy","year":"2025","unstructured":"Levy G, Rokach M, Fischer I, Kimchi-Feldhorn O, Shoob S, Bar E, et al. Gtf2i-encoded transcription factor tfii-i regulates myelination via Sox10 and mbp regulatory elements. Nat Commun. 2025;16:8518. https:\/\/doi.org\/10.1038\/s41467-025-63500-4.","journal-title":"Nat Commun"},{"key":"1020_CR176","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1007\/s12035-019-01732-4","volume":"57","author":"M Dasilva","year":"2020","unstructured":"Dasilva M, Navarro-Guzman A, Ortiz-Romero P, Camassa A, Mu\u00f1oz-Cespedes A, Campuzano V, et al. Altered neocortical dynamics in a mouse model of Williams\u2013Beuren syndrome. Mol Neurobiol. 2020;57:765\u201377. https:\/\/doi.org\/10.1007\/s12035-019-01732-4.","journal-title":"Mol Neurobiol"}],"container-title":["World Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-026-01020-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12519-026-01020-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-026-01020-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T19:36:34Z","timestamp":1776108994000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12519-026-01020-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":176,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["1020"],"URL":"https:\/\/doi.org\/10.1007\/s12519-026-01020-x","relation":{},"ISSN":["1708-8569","1867-0687"],"issn-type":[{"value":"1708-8569","type":"print"},{"value":"1867-0687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"25 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 December 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 March 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Author Yi-Cheng Xie is the member of the Editorial Board for\n World Journal of Pediatrics\n . The paper was handled by the other Editor and has undergone rigorous peer review process. The author Yi-Cheng Xie was not involved in the journal's review of, or decisions related to, this manuscript. Other authors claim no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}