{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T17:19:30Z","timestamp":1791652770693,"version":"4.3.4"},"reference-count":139,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T00:00:00Z","timestamp":1580860800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T00:00:00Z","timestamp":1580860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Behav Genet"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1007\/s10519-020-09991-x","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T09:04:07Z","timestamp":1580893447000},"page":"191-202","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders"],"prefix":"10.1007","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6820-7276","authenticated-orcid":false,"given":"Jessica A.","family":"Kaczorowski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor F.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda M.","family":"Shrewsbury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah R.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie S.","family":"Knopik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria T.","family":"Acosta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,2,5]]},"reference":[{"key":"9991_CR1","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1016\/S1474-4422(13)70179-0","volume":"12","author":"MT Acosta","year":"2013","unstructured":"Acosta MT (2013) Challenges of cognitive research in neurofibromatosis type 1. Lancet Neurol 12:1040\u20131041","journal-title":"Lancet Neurol"},{"key":"9991_CR2","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1007\/s11910-996-0036-5","volume":"6","author":"MT Acosta","year":"2006","unstructured":"Acosta MT, Gioia GA, Silva AJ (2006) Neurofibromatosis type 1: new insights into neurocognitive issues. Curr Neurol Neurosci Rep 6:136\u2013143","journal-title":"Curr Neurol Neurosci Rep"},{"key":"9991_CR3","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1002\/ajmg.a.35535","volume":"158A","author":"MT Acosta","year":"2012","unstructured":"Acosta MT et al (2012) The learning disabilities network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research. Am J Med Genet A 158A:2225\u20132232","journal-title":"Am J Med Genet A"},{"key":"9991_CR4","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1136\/jmedgenet-2013-101951","volume":"51","author":"B Adviento","year":"2014","unstructured":"Adviento B et al (2014) Autism traits in the RASopathies. J Med Genet 51:10\u201320","journal-title":"J Med Genet"},{"key":"9991_CR5","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1016\/j.jaac.2018.09.443","volume":"58","author":"S Alemany","year":"2019","unstructured":"Alemany S, Jansen PR, Muetzel RL, Marques N, El Marroun H, Jaddoe VWV, Polderman TJC, Tiemeier H, Posthuma D, White T (2019) Common polygenic variations for psychiatric disorders and cognition in relation to brain morphology in the general pediatric population. J Am Acad Child Adolesc Psychiatry 58:600\u2013607","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"issue":"Suppl 1","key":"9991_CR6","doi-asserted-by":"crossref","first-page":"S77","DOI":"10.1542\/peds.2006-2089L","volume":"119","author":"M Altarac","year":"2007","unstructured":"Altarac M, Saroha E (2007) Lifetime prevalence of learning disability among US children. Pediatrics 119(Suppl 1):S77\u201383","journal-title":"Pediatrics"},{"key":"9991_CR7","doi-asserted-by":"crossref","DOI":"10.1176\/appi.books.9780890425596","volume-title":"Diagnostic and statistical manual of mental disorders","author":"American Psychiatric Association","year":"2013","unstructured":"American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders. American Psychiatric Association, Philadelphia"},{"key":"9991_CR8","doi-asserted-by":"crossref","first-page":"6712","DOI":"10.1093\/hmg\/ddu389","volume":"23","author":"C Anastasaki","year":"2014","unstructured":"Anastasaki C, Gutmann DH (2014) Neuronal NF1\/RAS regulation of cyclic AMP requires atypical PKC activation. Hum Mol Genet 23:6712\u20136721","journal-title":"Hum Mol Genet"},{"key":"9991_CR9","doi-asserted-by":"crossref","first-page":"3518","DOI":"10.1093\/hmg\/ddv103","volume":"24","author":"C Anastasaki","year":"2015","unstructured":"Anastasaki C, Woo AS, Messiaen LM, Gutmann DH (2015) Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet 24:3518\u20133528","journal-title":"Hum Mol Genet"},{"key":"9991_CR10","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1093\/hmg\/dds301","volume":"21","author":"R Anney","year":"2012","unstructured":"Anney R et al (2012) Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 21:4781\u20134792","journal-title":"Hum Mol Genet"},{"key":"9991_CR11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss6706a1","volume":"67","author":"J Baio","year":"2018","unstructured":"Baio J et al (2018) Prevalence of autism spectrum disorder among children aged 8 years\u2014autism and developmental disabilities monitoring network, 11 sites, United States, 2014. MMWR Surveill Summ 67:1\u201323","journal-title":"MMWR Surveill Summ"},{"key":"9991_CR12","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/356713a0","volume":"356","author":"TN Basu","year":"1992","unstructured":"Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J (1992) Aberrant regulation of Ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356:713\u2013715","journal-title":"Nature"},{"key":"9991_CR13","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1017\/S1355617718000383","volume":"24","author":"ML Beaussart","year":"2018","unstructured":"Beaussart ML, Barbarot S, Mauger C, Roy A (2018) Systematic review and meta-analysis of executive functions in preschool and school-age children with neurofibromatosis type 1. J Int Neuropsychol Soc 24:977\u2013994","journal-title":"J Int Neuropsychol Soc"},{"key":"9991_CR14","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1016\/j.cell.2017.05.038","volume":"169","author":"EA Boyle","year":"2017","unstructured":"Boyle EA, Li YI, Pritchard JK (2017) An expanded view of complex traits: from polygenic to omnigenic. Cell 169:1177\u20131186","journal-title":"Cell"},{"key":"9991_CR15","first-page":"1","volume":"360","author":"Brain Consortium","year":"2018","unstructured":"Brain Consortium, et al. (2018). Analysis of shared heritability in common disorders of the brain. Science 360:1\u201315.","journal-title":"Science"},{"key":"9991_CR16","doi-asserted-by":"crossref","first-page":"4515","DOI":"10.1093\/hmg\/ddq382","volume":"19","author":"JA Brown","year":"2010","unstructured":"Brown JA, Emnett RJ, White CR, Yuede CM, Conyers SB, O'Malley KL, Wozniak DF, Gutmann DH (2010) Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice. Hum Mol Genet 19:4515\u20134528","journal-title":"Hum Mol Genet"},{"key":"9991_CR17","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1089\/bio.2015.29031.hmm","volume":"13","author":"LJ Carithers","year":"2015","unstructured":"Carithers LJ, Moore HM (2015) The genotype-tissue expression (gtex) project. Biopreserv Biobank 13:307\u2013308","journal-title":"Biopreserv Biobank"},{"key":"9991_CR18","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpsychires.2017.03.014","volume":"91","author":"M Cederl\u00f6f","year":"2017","unstructured":"Cederl\u00f6f M, Maughan B, Larsson H, D'Onofrio BM, Plomin R (2017) Reading problems and major mental disorders - co-occurrences and familial overlaps in a Swedish nationwide cohort. J Psychiatr Res 91:124\u2013129","journal-title":"J Psychiatr Res"},{"key":"9991_CR19","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.neulet.2012.03.009","volume":"515","author":"C Chabernaud","year":"2012","unstructured":"Chabernaud C, Mennes M, Kardel PG, Gaillard WD, Kalbfleisch ML, Vanmeter JW, Packer RJ, Milham MP, Castellanos FX, Acosta MT (2012) Lovastatin regulates brain spontaneous low-frequency brain activity in neurofibromatosis type 1. Neurosci Lett 515:28\u201333","journal-title":"Neurosci Lett"},{"key":"9991_CR20","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1080\/09297049.2017.1313970","volume":"24","author":"Y Chaix","year":"2018","unstructured":"Chaix Y et al (2018) Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1. Child Neuropsychol 24:558\u2013574","journal-title":"Child Neuropsychol"},{"key":"9991_CR21","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s11065-018-9380-x","volume":"28","author":"AK Chisholm","year":"2018","unstructured":"Chisholm AK, Anderson VA, Pride NA, Malarbi S, North KN, Payne JM (2018) Social function and autism spectrum disorder in children and adults with neurofibromatosis type 1: a systematic review and meta-analysis. Neuropsychol Rev 28:317\u2013340","journal-title":"Neuropsychol Rev"},{"key":"9991_CR22","first-page":"136","volume":"10","author":"CH Choi","year":"2016","unstructured":"Choi CH et al (2016) Multiple drug treatments that increase cAMP signaling restore long-term memory and aberrant signaling in Fragile X syndrome models. Front Behav Neurosci 10:136","journal-title":"Front Behav Neurosci"},{"key":"9991_CR23","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/B978-0-444-64076-5.00051-X","volume":"148","author":"PJ Cimino","year":"2018","unstructured":"Cimino PJ, Gutmann DH (2018) Neurofibromatosis type 1. Handb Clin Neurol 148:799\u2013811","journal-title":"Handb Clin Neurol"},{"key":"9991_CR24","unstructured":"Costa RM, Silva AJ (2002) Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J Child Neurol 17:622\u2013626; discussion 627\u2013629, 646\u2013651"},{"key":"9991_CR25","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/86898","volume":"27","author":"RM Costa","year":"2001","unstructured":"Costa RM, Yang T, Huynh DP, Pulst SM, Viskochil DH, Silva AJ, Brannan CI (2001) Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet 27:399\u2013405","journal-title":"Nat Genet"},{"key":"9991_CR26","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1038\/nature711","volume":"415","author":"RM Costa","year":"2002","unstructured":"Costa RM, Federov NB, Kogan JH, Murphy GG, Stern J, Ohno M, Kucherlapati R, Jacks T, Silva AJ (2002) Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 415:526\u2013530","journal-title":"Nature"},{"key":"9991_CR27","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.cell.2008.09.060","volume":"135","author":"Y Cui","year":"2008","unstructured":"Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, Parada LF, Mody I, Silva AJ (2008) Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell 135:549\u2013560","journal-title":"Cell"},{"key":"9991_CR28","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1080\/09297041003761985","volume":"16","author":"LE Cutting","year":"2010","unstructured":"Cutting LE, Levine TM (2010) Cognitive profile of children with neurofibromatosis and reading disabilities. Child Neuropsychol 16:417\u2013432","journal-title":"Child Neuropsychol"},{"key":"9991_CR29","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1207\/S15326942DN1701_02","volume":"17","author":"LE Cutting","year":"2000","unstructured":"Cutting LE, Koth CW, Denckla MB (2000) How children with neurofibromatosis type 1 differ from \"typical\" learning disabled clinic attenders: nonverbal learning disabilities revisited. Dev Neuropsychol 17:29\u201347","journal-title":"Dev Neuropsychol"},{"key":"9991_CR30","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1212\/01.WNL.0000032370.68306.8A","volume":"59","author":"LE Cutting","year":"2002","unstructured":"Cutting LE, Cooper KL, Koth CW, Mostofsky SH, Kates WR, Denckla MB, Kaufmann WE (2002) Megalencephaly in NF1: predominantly white matter contribution and mitigation by ADHD. Neurology 59:1388\u20131394","journal-title":"Neurology"},{"key":"9991_CR31","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/0896-6273(92)90270-N","volume":"8","author":"MM Daston","year":"1992","unstructured":"Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8:415\u2013428","journal-title":"Neuron"},{"key":"9991_CR32","doi-asserted-by":"crossref","first-page":"9914","DOI":"10.1073\/pnas.88.22.9914","volume":"88","author":"JE DeClue","year":"1991","unstructured":"DeClue JE, Cohen BD, Lowy DR (1991) Identification and characterization of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci USA 88:9914\u20139918","journal-title":"Proc Natl Acad Sci USA"},{"key":"9991_CR33","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/s41588-018-0269-7","volume":"51","author":"D Demontis","year":"2019","unstructured":"Demontis D et al (2019) Discovery of the first genome-wide significant risk loci for attention deficit\/hyperactivity disorder. Nat Genet 51:63\u201375","journal-title":"Nat Genet"},{"key":"9991_CR34","doi-asserted-by":"crossref","first-page":"e40092","DOI":"10.7554\/eLife.40092","volume":"8","author":"E Deneault","year":"2019","unstructured":"Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RKC, Sing KK, Ellis J, Scherer SW (2019) CNTN5-\/+or EHMT2-\/+ human iPSC-derived neurons from individuals with Autism develop hyperactive neuronal networks. eLife 8:e40092.","journal-title":"eLife"},{"key":"9991_CR35","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.tins.2012.12.002","volume":"36","author":"KA Diggs-Andrews","year":"2013","unstructured":"Diggs-Andrews KA, Gutmann DH (2013) Modeling cognitive dysfunction in Neurofibromatosis-1. Trends Neurosci 36:237\u2013247","journal-title":"Trends Neurosci"},{"key":"9991_CR36","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1002\/ajmg.c.31736","volume":"181","author":"WB Dobyns","year":"2019","unstructured":"Dobyns WB, Mirzaa GM (2019) Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Am J Med Genet C 181:582\u2013590","journal-title":"Am J Med Genet C"},{"key":"9991_CR37","first-page":"305","volume":"53","author":"DF Easton","year":"1993","unstructured":"Easton DF, Ponder MA, Huson SM, Ponder BA (1993) An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 53:305\u2013313","journal-title":"Am J Hum Genet"},{"key":"9991_CR38","doi-asserted-by":"crossref","first-page":"2278","DOI":"10.1007\/s10803-018-3478-0","volume":"48","author":"S Eijk","year":"2018","unstructured":"Eijk S et al (2018) Autism spectrum disorder in an unselected cohort of children with neurofibromatosis type 1 (NF1). J Autism Dev Disord 48:2278\u20132285","journal-title":"J Autism Dev Disord"},{"key":"9991_CR39","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1158\/1078-0432.CCR-12-1067","volume":"19","author":"M Endo","year":"2013","unstructured":"Endo M et al (2013) Prognostic significance of AKT\/mTOR and MAPK pathways and antitumor effect of mTOR inhibitor in NF1-related and sporadic malignant peripheral nerve sheath tumors. Clin Cancer Res 19:450\u2013461","journal-title":"Clin Cancer Res"},{"key":"9991_CR40","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.33139","volume":"152A","author":"DG Evans","year":"2010","unstructured":"Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 152A:327\u2013332","journal-title":"Am J Med Genet A"},{"key":"9991_CR41","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00787-009-0054-3","volume":"19","author":"SV Faraone","year":"2010","unstructured":"Faraone SV, Buitelaar J (2010) Comparing the efficacy of stimulants for ADHD in children and adolescents using meta-analysis. Eur Child Adolesc Psychiatry 19:353\u2013364","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"9991_CR42","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.jaac.2016.11.011","volume":"56","author":"SV Faraone","year":"2017","unstructured":"Faraone SV, Ghirardi L, Kuja-Halkola R, Lichtenstein P, Larsson H (2017) The familial co-aggregation of attention-deficit\/hyperactivity disorder and intellectual disability: a register-based family study. J Am Acad Child Adolesc Psychiatry 56:167\u2013174.e161","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"9991_CR43","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.2006.045906","volume":"44","author":"RE Ferner","year":"2007","unstructured":"Ferner RE et al (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81\u201388","journal-title":"J Med Genet"},{"key":"9991_CR44","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1038\/ng.3404","volume":"47","author":"HK Finucane","year":"2015","unstructured":"Finucane HK et al (2015) Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat Genet 47:1228\u20131235","journal-title":"Nat Genet"},{"key":"9991_CR45","volume-title":"Clinical Epidemiology: The Essentials","author":"SW Fletcher","year":"1996","unstructured":"Fletcher SW, Wagner EH (1996) Clinical Epidemiology: The Essentials. Lippincott Williams & Wilkins, Philadelphia"},{"key":"9991_CR46","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s13229-019-0262-8","volume":"10","author":"J For\u00e9s-Martos","year":"2019","unstructured":"For\u00e9s-Martos J et al (2019) Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer. Mol Autism 10:17","journal-title":"Mol Autism"},{"key":"9991_CR47","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1016\/j.biopsych.2017.03.005","volume":"81","author":"JH Foss-Feig","year":"2017","unstructured":"Foss-Feig JH, Adkinson BD, Ji JL, Yang G, Srihari VH, McPartland JC, Krystal JH, Murray JD, Anticevic A (2017) Searching for cross-diagnostic convergence: neural mechanisms governing excitation and inhibition balance in Schizophrenia and autism spectrum disorders. Biol Psychiatry 81:848\u2013861","journal-title":"Biol Psychiatry"},{"key":"9991_CR48","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/dmcn.12043","volume":"55","author":"S Garg","year":"2013","unstructured":"Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J (2013) Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol 55:139\u2013145","journal-title":"Dev Med Child Neurol"},{"key":"9991_CR49","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s11689-016-9159-4","volume":"8","author":"S Garg","year":"2016","unstructured":"Garg S, Heuvelman H, Huson S, Tobin H, Green J, Network NUNR (2016) Sex bias in autism spectrum disorder in neurofibromatosis type 1. J Neurodev Disord 8:26","journal-title":"J Neurodev Disord"},{"key":"9991_CR50","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/mp.2017.17","volume":"23","author":"L Ghirardi","year":"2018","unstructured":"Ghirardi L, Brikell I, Kuja-Halkola R, Freitag CM, Franke B, Asherson P, Lichtenstein P, Larsson H (2018) The familial co-aggregation of ASD and ADHD: a register-based cohort study. Mol Psychiatry 23:257\u2013262","journal-title":"Mol Psychiatry"},{"key":"9991_CR51","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/s13229-017-0166-4","volume":"8","author":"J Gon\u00e7alves","year":"2017","unstructured":"Gon\u00e7alves J, Violante IR, Sereno J, Leit\u00e3o RA, Cai Y, Abrunhosa A, Silva AP, Silva AJ, Castelo-Branco M (2017) Testing the excitation\/inhibition imbalance hypothesis in a mouse model of the Autism Spectrum Disorder: in vivo neurospectroscopy and molecular evidence for regional phenotypes. Mol Autism 8:47","journal-title":"Mol Autism"},{"key":"9991_CR52","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/nn.3708","volume":"17","author":"J Gratten","year":"2014","unstructured":"Gratten J, Wray NR, Keller MC, Visscher PM (2014) Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat Neurosci 17:782\u2013790","journal-title":"Nat Neurosci"},{"key":"9991_CR53","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/s41588-019-0344-8","volume":"51","author":"J Grove","year":"2019","unstructured":"Grove J et al (2019) Identification of common genetic risk variants for autism spectrum disorder. Nat Genet 51:431\u2013444","journal-title":"Nat Genet"},{"key":"9991_CR54","doi-asserted-by":"crossref","first-page":"9658","DOI":"10.1073\/pnas.88.21.9658","volume":"88","author":"DH Gutmann","year":"1991","unstructured":"Gutmann DH, Wood DL, Collins FS (1991) Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci U S A 88:9658\u20139662","journal-title":"Proc Natl Acad Sci U S A"},{"key":"9991_CR55","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1002\/1531-8249(199911)46:5<777::AID-ANA15>3.0.CO;2-H","volume":"46","author":"DH Gutmann","year":"1999","unstructured":"Gutmann DH, Zhang Y, Hirbe A (1999) Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. Ann Neurol 46:777\u2013782","journal-title":"Ann Neurol"},{"key":"9991_CR56","doi-asserted-by":"crossref","first-page":"17004","DOI":"10.1038\/nrdp.2017.4","volume":"3","author":"DH Gutmann","year":"2017","unstructured":"Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (2017) Neurofibromatosis type 1. Nat Rev Dis Primers 3:17004","journal-title":"Nat Rev Dis Primers"},{"key":"9991_CR57","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/nature11405","volume":"489","author":"MJ Hawrylycz","year":"2012","unstructured":"Hawrylycz MJ et al (2012) An anatomically comprehensive atlas of the adult human brain transcriptome. Nature 489:391\u2013399","journal-title":"Nature"},{"key":"9991_CR58","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1093\/hmg\/4.8.1267","volume":"4","author":"S Hoffmeyer","year":"1995","unstructured":"Hoffmeyer S, Assum G, Griesser J, Kaufmann D, N\u00fcrnberg P, Krone W (1995) On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1. Hum Mol Genet 4:1267\u20131272","journal-title":"Hum Mol Genet"},{"key":"9991_CR59","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1212\/01.wnl.0000179303.72345.ce","volume":"65","author":"SL Hyman","year":"2005","unstructured":"Hyman SL, Shores A, North KN (2005) The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 65:1037\u20131044","journal-title":"Neurology"},{"key":"9991_CR60","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1023\/A:1023684503883","volume":"23","author":"PA Insel","year":"2003","unstructured":"Insel PA, Ostrom RS (2003) Forskolin as a tool for examining adenylyl cyclase expression, regulation, and G protein signaling. Cell Mol Neurobiol 23:305\u2013314","journal-title":"Cell Mol Neurobiol"},{"key":"9991_CR61","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1016\/j.neubiorev.2008.06.005","volume":"32","author":"DJ Kelley","year":"2008","unstructured":"Kelley DJ, Bhattacharyya A, Lahvis GP, Yin JC, Malter J, Davidson RJ (2008) The cyclic AMP phenotype of Fragile X and autism. Neurosci Biobehav Rev 32:1533\u20131543","journal-title":"Neurosci Biobehav Rev"},{"key":"9991_CR62","doi-asserted-by":"crossref","first-page":"206","DOI":"10.5607\/en.2017.26.4.206","volume":"26","author":"YS Kim","year":"2017","unstructured":"Kim YS, Woo J, Lee CJ, Yoon BE (2017) Decreased glial GABA and tonic inhibition in cerebellum of mouse model for attention-deficit\/hyperactivity disorder (ADHD). Exp Neurobiol 26:206\u2013212","journal-title":"Exp Neurobiol"},{"key":"9991_CR63","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/ajmg.b.32542","volume":"174","author":"M Klein","year":"2017","unstructured":"Klein M, van Donkelaar M, Verhoef E, Franke B (2017) Imaging genetics in neurodevelopmental psychopathology. Am J Med Genet B 174:485\u2013537","journal-title":"Am J Med Genet B"},{"key":"9991_CR64","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1176\/appi.ajp.2018.18020149","volume":"176","author":"M Klein","year":"2019","unstructured":"Klein M et al (2019) Genetic markers of ADHD-related variations in intracranial volume. Am J Psychiatry 176:228\u2013238","journal-title":"Am J Psychiatry"},{"key":"9991_CR65","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ajhg.2017.12.001","volume":"102","author":"M Koczkowska","year":"2018","unstructured":"Koczkowska M et al (2018) Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844\u2013848. Am J Hum Genet 102:69\u201387","journal-title":"Am J Hum Genet"},{"key":"9991_CR66","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/s41436-018-0269-0","volume":"21","author":"M Koczkowska","year":"2019","unstructured":"Koczkowska M et al (2019) Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med 21:867\u2013876","journal-title":"Genet Med"},{"key":"9991_CR67","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1076\/chin.6.3.185.3155","volume":"6","author":"CW Koth","year":"2000","unstructured":"Koth CW, Cutting LE, Denckla MB (2000) The association of Neurofibromatosis type 1 and attention deficit hyperactivity disorder. Child Neuropsychol 6:185\u2013194","journal-title":"Child Neuropsychol"},{"key":"9991_CR68","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1097\/WCO.0b013e3280895da8","volume":"20","author":"MJ Lee","year":"2007","unstructured":"Lee MJ, Stephenson DA (2007) Recent developments in neurofibromatosis type 1. Curr Opin Neurol 20:135\u2013141","journal-title":"Curr Opin Neurol"},{"key":"9991_CR69","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1016\/j.cub.2005.09.043","volume":"15","author":"W Li","year":"2005","unstructured":"Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ (2005) The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol 15:1961\u20131967","journal-title":"Curr Biol"},{"key":"9991_CR70","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/j.1469-8749.2012.04377.x","volume":"54","author":"K Lidzba","year":"2012","unstructured":"Lidzba K, Granstr\u00f6m S, Lindenau J, Mautner VF (2012) The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1. Dev Med Child Neurol 54:892\u2013897","journal-title":"Dev Med Child Neurol"},{"key":"9991_CR71","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1186\/s13023-014-0142-4","volume":"9","author":"L Lion-Fran\u00e7ois","year":"2014","unstructured":"Lion-Fran\u00e7ois L et al (2014) The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial. Orphanet J Rare Dis 9:142","journal-title":"Orphanet J Rare Dis"},{"key":"9991_CR72","doi-asserted-by":"crossref","first-page":"2423","DOI":"10.1017\/S0033291711000377","volume":"41","author":"S Lundstr\u00f6m","year":"2011","unstructured":"Lundstr\u00f6m S, Chang Z, Kerekes N, Gumpert CH, R\u00e5stam M, Gillberg C, Lichtenstein P, Anckars\u00e4ter H (2011) Autistic-like traits and their association with mental health problems in two nationwide twin cohorts of children and adults. Psychol Med 41:2423\u20132433","journal-title":"Psychol Med"},{"key":"9991_CR73","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1146\/annurev.genet.35.102401.090633","volume":"35","author":"TF Mackay","year":"2001","unstructured":"Mackay TF (2001) The genetic architecture of quantitative traits. Annu Rev Genet 35:303\u2013339","journal-title":"Annu Rev Genet"},{"key":"9991_CR74","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1186\/1471-2377-13-131","volume":"13","author":"F Mainberger","year":"2015","unstructured":"Mainberger F, Jung NH, Zenker M, Wahll\u00e4nder U, Freudenberg L, Langer S, Berweck S, Winkler T, Straube A, Heinen F, Granstr\u00f6m S, Mautner VF, Lidzba K, Mall V (2015) Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1. BMC Neurol 13:131","journal-title":"BMC Neurol"},{"key":"9991_CR75","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/aur.1853","volume":"11","author":"SE Maloney","year":"2018","unstructured":"Maloney SE, Chandler KC, Anastasaki C, Rieger MA, Gutmann DH, Dougherty JD (2018) Characterization of early communicative behavior in mouse models of neurofibromatosis type 1. Autism Res 11:44\u201358","journal-title":"Autism Res"},{"key":"9991_CR76","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.cell.2015.06.034","volume":"162","author":"J Mariani","year":"2015","unstructured":"Mariani J et al (2015) FOXG1-dependent dysregulation of GABA\/glutamate neuron differentiation in autism spectrum disorders. Cell 162:375\u2013390","journal-title":"Cell"},{"key":"9991_CR77","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1017\/S0012162201001876","volume":"44","author":"VF Mautner","year":"2002","unstructured":"Mautner VF, Kluwe L, Thakker SD, Leark RA (2002) Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol 44:164\u2013170","journal-title":"Dev Med Child Neurol"},{"key":"9991_CR78","unstructured":"McCormick F (2015) RAS pathway v2.0. NIH. www.cancer.gov\/research\/key-initiatives\/ras\/ras-central\/blog\/2015\/ras-pathway-v2. Accessed 11 Nov 2019"},{"key":"9991_CR79","first-page":"160","volume":"77","author":"K McKeever","year":"2008","unstructured":"McKeever K, Shepherd CW, Crawford H, Morrison PJ (2008) An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age. Ulster Med J 77:160\u2013163","journal-title":"Ulster Med J"},{"key":"9991_CR80","doi-asserted-by":"crossref","first-page":"e20190660","DOI":"10.1542\/peds.2019-0660","volume":"143","author":"DT Miller","year":"2019","unstructured":"Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR (2019) Health supervision for children with neurofibromatosis type 1. Pediatrics 143:e20190660","journal-title":"Pediatrics"},{"key":"9991_CR81","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1001\/jamaneurol.2016.0363","volume":"73","author":"GM Mirzaa","year":"2016","unstructured":"Mirzaa GM et al (2016) Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurol 73:836\u2013845","journal-title":"JAMA Neurol"},{"key":"9991_CR82","doi-asserted-by":"crossref","first-page":"e1006516","DOI":"10.1371\/journal.pgen.1006516","volume":"13","author":"I Mitra","year":"2017","unstructured":"Mitra I, Lavillaureix A, Yeh E, Traglia M, Tsang K, Bearden CE, Rauen KA, Weiss LA (2017) Reverse pathway genetic approach identifies epistasis in autism spectrum disorders. PLoS Genet 13:e1006516","journal-title":"PLoS Genet"},{"key":"9991_CR83","doi-asserted-by":"crossref","first-page":"e103537","DOI":"10.1371\/journal.pone.0103537","volume":"9","author":"K Moll","year":"2014","unstructured":"Moll K, Kunze S, Neuhoff N, Bruder J, Schulte-K\u00f6rne G (2014) Specific learning disorder: prevalence and gender differences. PLoS ONE 9:e103537","journal-title":"PLoS ONE"},{"key":"9991_CR84","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ddrr.53","volume":"15","author":"BD Moore","year":"2009","unstructured":"Moore BD (2009) Potential influences on mathematical difficulties in children and adolescents with neurofibromatosis, type 1. Dev Disabil Res Rev 15:45\u201351","journal-title":"Dev Disabil Res Rev"},{"key":"9991_CR85","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1212\/WNL.0000000000005000","volume":"90","author":"SM Morris","year":"2018","unstructured":"Morris SM, Gutmann DH (2018) A genotype-phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1. Neurology 90:377\u2013379","journal-title":"Neurology"},{"key":"9991_CR86","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1001\/jamapsychiatry.2016.2600","volume":"73","author":"SM Morris","year":"2016","unstructured":"Morris SM et al (2016) Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the International NF1-ASD consortium team (INFACT). JAMA Psychiatry 73:1276\u20131284","journal-title":"JAMA Psychiatry"},{"key":"9991_CR87","first-page":"172","volume":"1","author":"National Institutes of Health","year":"1988","unstructured":"National Institutes of Health (1988) National institutes of health consensus development conference statement: neurofibromatosis. Bethesda, MD, USA, July 13\u201315, 1987. Neurofibromatosis 1:172\u2013178","journal-title":"Neurofibromatosis"},{"key":"9991_CR139","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1212\/WNL.48.4.1121","volume":"48","author":"KN North","year":"1997","unstructured":"North KN, Riccardi V, Samango-Sprouse C, Ferner R, Moore B, Legius E, Ratner N, Denckla MB (1997) Cognitive function and academic performance in neurofibrornatosis 1: Consensus statement from the NF1 cognitive disorders task force. Neurology 48:1121-1127","journal-title":"Neurology"},{"key":"9991_CR88","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1038\/nm.4196","volume":"22","author":"MC O'Donovan","year":"2016","unstructured":"O'Donovan MC, Owen MJ (2016) The implications of the shared genetics of psychiatric disorders. Nat Med 22:1214\u20131219","journal-title":"Nat Med"},{"key":"9991_CR89","doi-asserted-by":"crossref","first-page":"386","DOI":"10.3389\/fnhum.2014.00386","volume":"8","author":"M Orraca-Castillo","year":"2014","unstructured":"Orraca-Castillo M, Est\u00e9vez-P\u00e9rez N, Reigosa-Crespo V (2014) Neurocognitive profiles of learning disabled children with neurofibromatosis type 1. Front Hum Neurosci 8:386","journal-title":"Front Hum Neurosci"},{"key":"9991_CR90","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1002\/humu.23224","volume":"38","author":"F Pantaleoni","year":"2017","unstructured":"Pantaleoni F et al (2017) Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. Hum Mutat 38:798\u2013804","journal-title":"Hum Mutat"},{"key":"9991_CR91","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1136\/jnnp.2009.179630","volume":"81","author":"JM Payne","year":"2010","unstructured":"Payne JM, Moharir MD, Webster R, North KN (2010) Brain structure and function in neurofibromatosis type 1: current concepts and future directions. J Neurol Neurosurg Psychiatry 81:304\u2013309","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"9991_CR92","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1080\/09297049.2010.542746","volume":"17","author":"JM Payne","year":"2011","unstructured":"Payne JM, Hyman SL, Shores EA, North KN (2011) Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior. Child Neuropsychol 17:313\u2013329","journal-title":"Child Neuropsychol"},{"key":"9991_CR93","doi-asserted-by":"crossref","first-page":"2575","DOI":"10.1212\/WNL.0000000000003435","volume":"87","author":"JM Payne","year":"2016","unstructured":"Payne JM et al (2016) Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology 87:2575\u20132584","journal-title":"Neurology"},{"key":"9991_CR94","doi-asserted-by":"crossref","first-page":"1974","DOI":"10.1002\/ajmg.a.37725","volume":"170","author":"EI Pierpont","year":"2016","unstructured":"Pierpont EI, Wolford M (2016) Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. Am J Med Genet A 170:1974\u20131988","journal-title":"Am J Med Genet A"},{"key":"9991_CR95","doi-asserted-by":"crossref","first-page":"267","DOI":"10.31887\/DCNS.2018.20.4\/gmirzaa","volume":"20","author":"F Pirozzi","year":"2018","unstructured":"Pirozzi F, Nelson B, Mirzaa G (2018) From microcephaly to megalencephaly: determinants of brain size. Dialogues Clin Neurosci 20:267\u2013282","journal-title":"Dialogues Clin Neurosci"},{"key":"9991_CR96","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1097\/WCO.0b013e32835f19c3","volume":"26","author":"D Posthuma","year":"2013","unstructured":"Posthuma D, Polderman TJ (2013) What have we learned from recent twin studies about the etiology of neurodevelopmental disorders? Curr Opin Neurol 26:111\u2013121","journal-title":"Curr Opin Neurol"},{"key":"9991_CR97","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1038\/s41467-017-00933-6","volume":"8","author":"MRF Reijnders","year":"2017","unstructured":"Reijnders MRF et al (2017) Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nat Commun 8:1052","journal-title":"Nat Commun"},{"key":"9991_CR98","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/ajmg.a.33851","volume":"155A","author":"MB Rieley","year":"2011","unstructured":"Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK (2011) Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A 155A:478\u2013485","journal-title":"Am J Med Genet A"},{"key":"9991_CR99","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1469-7610.2007.01857.x","volume":"49","author":"A Ronald","year":"2008","unstructured":"Ronald A, Simonoff E, Kuntsi J, Asherson P, Plomin R (2008) Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample. J Child Psychol Psychiatry 49:535\u2013542","journal-title":"J Child Psychol Psychiatry"},{"key":"9991_CR100","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s10802-009-9366-5","volume":"38","author":"A Ronald","year":"2010","unstructured":"Ronald A, Edelson LR, Asherson P, Saudino KJ (2010) Exploring the relationship between autistic-like traits and ADHD behaviors in early childhood: findings from a community twin study of 2-year-olds. J Abnorm Child Psychol 38:185\u2013196","journal-title":"J Abnorm Child Psychol"},{"key":"9991_CR101","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1037\/a0036088","volume":"123","author":"A Ronald","year":"2014","unstructured":"Ronald A, Larsson H, Anckars\u00e4ter H, Lichtenstein P (2014) Symptoms of autism and ADHD: a Swedish twin study examining their overlap. J Abnorm Psychol 123:440\u2013451","journal-title":"J Abnorm Psychol"},{"key":"9991_CR102","doi-asserted-by":"crossref","first-page":"13905","DOI":"10.1038\/s41598-017-14440-7","volume":"7","author":"N Sagata","year":"2017","unstructured":"Sagata N et al (2017) Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study. Sci Rep 7:13905","journal-title":"Sci Rep"},{"key":"9991_CR103","first-page":"235","volume":"18","author":"M Sahin","year":"2018","unstructured":"Sahin M, Jones SR, Sweeney JA, Berry-Kravis E, Conners BW, Ewen JB, Hartman AL, Levin AR, Potter WZ, Mamounas LA (2018) Discovering translational biomarkers in neurodevelopmental disorders. Nat Rev Drug Discov 18:235\u2013236","journal-title":"Nat Rev Drug Discov"},{"key":"9991_CR104","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1097\/00001756-199608120-00015","volume":"7","author":"SM Said","year":"1996","unstructured":"Said SM, Yeh TL, Greenwood RS, Whitt JK, Tupler LA, Krishnan KR (1996) MRI morphometric analysis and neuropsychological function in patients with neurofibromatosis. NeuroReport 7:1941\u20131944","journal-title":"NeuroReport"},{"key":"9991_CR105","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1038\/s41591-019-0581-5","volume":"25","author":"SJ Sanders","year":"2019","unstructured":"Sanders SJ et al (2019) A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med 25:1477\u20131487","journal-title":"Nat Med"},{"key":"9991_CR106","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/s41593-018-0295-x","volume":"22","author":"ST Schafer","year":"2019","unstructured":"Schafer ST et al (2019) Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons. Nat Neurosci 22:243\u2013255","journal-title":"Nat Neurosci"},{"key":"9991_CR107","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1586\/14737175.2014.953931","volume":"14","author":"KE Schwetye","year":"2014","unstructured":"Schwetye KE, Gutmann DH (2014) Cognitive and behavioral problems in children with neurofibromatosis type 1: challenges and future directions. Expert Rev Neurother 14:1139\u20131152","journal-title":"Expert Rev Neurother"},{"key":"9991_CR108","doi-asserted-by":"crossref","first-page":"e0178639","DOI":"10.1371\/journal.pone.0178639","volume":"12","author":"M Seidlin","year":"2017","unstructured":"Seidlin M, Holzman R, Knight P, Korf B, Rangel Miller V, Viskochil D, Bakker A, CsT F (2017) Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: an observational study. PLoS ONE 12:e0178639","journal-title":"PLoS ONE"},{"key":"9991_CR109","doi-asserted-by":"crossref","first-page":"14359","DOI":"10.1038\/ncomms14359","volume":"8","author":"F Sethna","year":"2017","unstructured":"Sethna F, Feng W, Ding Q, Robison AJ, Feng Y, Wang H (2017) Enhanced expression of ADCY1 underlies aberrant neuronal signalling and behaviour in a syndromic autism model. Nat Commun 8:14359","journal-title":"Nat Commun"},{"key":"9991_CR110","doi-asserted-by":"crossref","first-page":"104479","DOI":"10.1016\/j.nbd.2019.104479","volume":"130","author":"B Shofty","year":"2019","unstructured":"Shofty B et al (2019) Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal functional connectivity in human and mouse. Neurobiol Dis 130:104479","journal-title":"Neurobiol Dis"},{"key":"9991_CR111","first-page":"165","volume":"10","author":"ER Sites","year":"2019","unstructured":"Sites ER, Smolarek TA, Martin LJ, Viskochil DH, Stevenson DA, Ullrich NJ, Messiaen LM, Sokol DK, Maloney B, Westmark CJ, Lahiri DK (2019) Novel contribution of secreted amyloid-\u03b2 precursor protein to white matter brain enlargement in autism spectrum disorder. Front Psychiatry 10:165","journal-title":"Front Psychiatry"},{"key":"9991_CR138","doi-asserted-by":"crossref","first-page":"165","DOI":"10.3389\/fpsyt.2019.00165","volume":"10","author":"DK Sokol","year":"2019","unstructured":"Sokol DK, Maloney B, Westmark CJ, Lahiri DK (2019) Novel contribution of secreted amyloid-\u03b2 precursor protein to white matter brain enlargement in autism spectrum disorder. Front Psychia 10:165","journal-title":"Front Psychia"},{"key":"9991_CR112","first-page":"810","volume":"22","author":"RG Steen","year":"2001","unstructured":"Steen RG, Taylor JS, Langston JW, Glass JO, Brewer VR, Reddick WE, Mages R, Pivnick EK (2001) Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR Am J Neuroradiol 22:810\u2013817","journal-title":"AJNR Am J Neuroradiol"},{"key":"9991_CR113","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1016\/S0140-6736(05)62956-X","volume":"349","author":"RE Stevenson","year":"1997","unstructured":"Stevenson RE, Schroer RJ, Skinner C, Fender D, Simensen RJ (1997) Autism and macrocephaly. Lancet 349:1744\u20131745","journal-title":"Lancet"},{"key":"9991_CR114","doi-asserted-by":"crossref","first-page":"D447","DOI":"10.1093\/nar\/gku1003","volume":"43","author":"D Szklarczyk","year":"2015","unstructured":"Szklarczyk D et al (2015) STRING v10: protein-protein interaction networks, integrated over the tree of life. Nucleic Acids Res 43:D447\u2013452","journal-title":"Nucleic Acids Res"},{"key":"9991_CR115","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nrg.2017.101","volume":"19","author":"NJ Timpson","year":"2018","unstructured":"Timpson NJ, Greenwood CMT, Soranzo N, Lawson DJ, Richards JB (2018) Genetic architecture: the shape of the genetic contribution to human traits and disease. Nat Rev Genet 19:110\u2013124","journal-title":"Nat Rev Genet"},{"key":"9991_CR116","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/nn792","volume":"5","author":"J Tong","year":"2002","unstructured":"Tong J, Hannan F, Zhu Y, Bernards A, Zhong Y (2002) Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci 5:95\u201396","journal-title":"Nat Neurosci"},{"key":"9991_CR117","doi-asserted-by":"crossref","first-page":"227","DOI":"10.3389\/fped.2017.00227","volume":"5","author":"MM Torres Nupan","year":"2017","unstructured":"Torres Nupan MM, Velez Van Meerbeke A, L\u00f3pez Cabra CA, Herrera Gomez PM (2017) Cognitive and behavioral disorders in children with neurofibromatosis type 1. Front Pediatr 5:227","journal-title":"Front Pediatr"},{"key":"9991_CR118","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.2006.00639.x","volume":"70","author":"AB Trov\u00f3-Marqui","year":"2006","unstructured":"Trov\u00f3-Marqui AB, Tajara EH (2006) Neurofibromin: a general outlook. Clin Genet 70:1\u201313","journal-title":"Clin Genet"},{"key":"9991_CR119","first-page":"65","volume-title":"Neurofibromatosis type 1: from genotype to phenotype","author":"M Upadhyaya","year":"1998","unstructured":"Upadhyaya M, Cooper DN (1998) The mutational spectrum in neurofibromatosis 1 and its underlying mechanisms. In: Upadhyaya M, Cooper DN (eds) Neurofibromatosis type 1: from genotype to phenotype. BIOS Scientific Publishers, Oxford, pp 65\u201388"},{"key":"9991_CR120","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/jid.2014.465","volume":"135","author":"E Uusitalo","year":"2015","unstructured":"Uusitalo E, Lepp\u00e4virta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, P\u00f6yh\u00f6nen M, Peltonen J, Peltonen S (2015) Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol 135:904\u2013906","journal-title":"J Invest Dermatol"},{"key":"9991_CR121","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1016\/S1474-4422(13)70227-8","volume":"12","author":"T van der Vaart","year":"2013","unstructured":"van der Vaart T et al (2013) Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol 12:1076\u20131083","journal-title":"Lancet Neurol"},{"key":"9991_CR122","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/mp.2015.55","volume":"21","author":"M van der Voet","year":"2016","unstructured":"van der Voet M, Harich B, Franke B, Schenck A (2016) ADHD-associated dopamine transporter, latrophilin and neurofibromin share a dopamine-related locomotor signature in Drosophila. Mol Psychiatry 21:565\u2013573","journal-title":"Mol Psychiatry"},{"key":"9991_CR123","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1007\/BF01377205","volume":"26","author":"S Van Es","year":"1996","unstructured":"Van Es S, North KN, McHugh K, De Silva M (1996) MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 26:478\u2013487","journal-title":"Pediatr Radiol"},{"key":"9991_CR124","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/s41398-018-0324-2","volume":"9","author":"E Verhoef","year":"2019","unstructured":"Verhoef E et al (2019) Disentangling polygenic associations between attention-deficit\/hyperactivity disorder, educational attainment, literacy and language. Transl Psychiatry 9:35","journal-title":"Transl Psychiatry"},{"key":"9991_CR125","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/bs.pbr.2018.09.008","volume":"241","author":"J Vithayathil","year":"2018","unstructured":"Vithayathil J, Pucilowska J, Landreth GE (2018) ERK\/MAPK signaling and autism spectrum disorders. Prog Brain Res 241:63\u2013112","journal-title":"Prog Brain Res"},{"key":"9991_CR126","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1111\/dmcn.13526","volume":"59","author":"AC Vogel","year":"2017","unstructured":"Vogel AC, Gutmann DH, Morris SM (2017) Neurodevelopmental disorders in children with neurofibromatosis type 1. Dev Med Child Neurol 59:1112\u20131116","journal-title":"Dev Med Child Neurol"},{"key":"9991_CR127","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/dmcn.12038","volume":"55","author":"KS Walsh","year":"2013","unstructured":"Walsh KS, Velez JI, Kardel PG, Imas DM, Muenke M, Packer RJ, Castellanos FX, Acosta MT (2013) Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol 55:131\u2013138","journal-title":"Dev Med Child Neurol"},{"key":"9991_CR128","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1038\/s41588-019-0481-0","volume":"51","author":"K Watanabe","year":"2019","unstructured":"Watanabe K, Stringer S, Frei O, Umi\u0107evi\u0107 MM, de Leeuw C, Polderman TJC, van der Sluis S, Andreassen OA, Neale BM, Posthuma D (2019) Nat Genet 51:1339\u20131348","journal-title":"Nat Genet"},{"key":"9991_CR129","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1080\/09297040701595505","volume":"14","author":"SE Watt","year":"2008","unstructured":"Watt SE, Shores A, North KN (2008) An examination of lexical and sublexical reading skills in children with Neurofibromatosis Type 1. Child Neuropsychol 14:401\u2013418","journal-title":"Child Neuropsychol"},{"key":"9991_CR130","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/j.expneurol.2017.04.001","volume":"299","author":"ML Wegscheid","year":"2018","unstructured":"Wegscheid ML, Anastasaki C, Gutmann DH (2018) Human stem cell modeling in neurofibromatosis type 1 (NF1). Exp Neurol 299:270\u2013280","journal-title":"Exp Neurol"},{"key":"9991_CR131","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1007\/s13311-012-0135-8","volume":"9","author":"EG Willcutt","year":"2012","unstructured":"Willcutt EG (2012) The prevalence of DSM-IV attention-deficit\/hyperactivity disorder: a meta-analytic review. Neurotherapeutics 9:490\u2013499","journal-title":"Neurotherapeutics"},{"key":"9991_CR132","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1016\/j.biopsych.2005.02.006","volume":"57","author":"EG Willcutt","year":"2005","unstructured":"Willcutt EG, Doyle AE, Nigg JT, Faraone SV, Pennington BF (2005) Validity of the executive function theory of Attention-Deficit\/Hyperactivity Disorder: a meta-analytic review. Biol Psychiatry 57:1336\u20131346","journal-title":"Biol Psychiatry"},{"key":"9991_CR133","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1542\/peds.2007-3204","volume":"123","author":"VC Williams","year":"2009","unstructured":"Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (2009) Neurofibromatosis Type 1 revisited. Pediatrics 123:124\u2013133","journal-title":"Pediatrics"},{"key":"9991_CR134","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1016\/j.celrep.2014.07.054","volume":"8","author":"MA Wolman","year":"2014","unstructured":"Wolman MA, de Groh ED, McBride SM, Jongens TA, Granato M, Epstein JA (2014) Modulation of cAMP and ras signaling pathways improves distinct behavioral deficits in a zebrafish model of neurofibromatosis type 1. Cell Rep 8:1265\u20131270","journal-title":"Cell Rep"},{"key":"9991_CR135","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1038\/s41598-019-39434-5","volume":"9","author":"X Xing","year":"2019","unstructured":"Xing X, Zhang J, Wu K, Cao B, Li X, Jiang F, Hu Z, Xia K, Li JD (2019) Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice. Sci Rep 9:3041","journal-title":"Sci Rep"},{"key":"9991_CR136","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.pscychresns.2017.06.003","volume":"266","author":"YN Yoncheva","year":"2017","unstructured":"Yoncheva YN et al (2017) Computerized cognitive training for children with neurofibromatosis type 1: a pilot resting-state fMRI study. Psychiatry Res Neuroimaging 266:53\u201358","journal-title":"Psychiatry Res Neuroimaging"},{"key":"9991_CR137","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1038\/nn.3713","volume":"17","author":"X Zhu","year":"2014","unstructured":"Zhu X, Need AC, Petrovski S, Goldstein DB (2014) One gene, many neuropsychiatric disorders: lessons from Mendelian diseases. Nat Neurosci 17:773\u2013781","journal-title":"Nat Neurosci"}],"container-title":["Behavior Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10519-020-09991-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10519-020-09991-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10519-020-09991-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T19:27:21Z","timestamp":1612380441000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10519-020-09991-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,5]]},"references-count":139,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["9991"],"URL":"https:\/\/doi.org\/10.1007\/s10519-020-09991-x","relation":{},"ISSN":["0001-8244","1573-3297"],"issn-type":[{"value":"0001-8244","type":"print"},{"value":"1573-3297","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,5]]},"assertion":[{"value":"1 June 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 January 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 February 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Jessica A. Kaczorowski, Taylor F. Smith, Amanda M. Shrewsbury, Leah R. Thomas, Valerie S. Knopik and Maria T. Acosta declare that they have no confict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This article does not contain any studies with human participants or animals performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}]}}