{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:20:36Z","timestamp":1789845636066,"version":"4.0.1"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["4T32GM007748-38"],"award-info":[{"award-number":["4T32GM007748-38"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1007\/s10048-017-0535-3","type":"journal-article","created":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T06:58:14Z","timestamp":1515567494000},"page":"41-47","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Monogenic disorders that mimic the phenotype of Rett syndrome"],"prefix":"10.1007","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7008-1879","authenticated-orcid":false,"given":"Siddharth","family":"Srivastava","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Desai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constance","family":"Smith-Hicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Bara\u00f1ano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Fatemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SakkuBai","family":"Naidu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,1,10]]},"reference":[{"issue":"4","key":"535_CR1","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/ana.410140412","volume":"14","author":"B Hagberg","year":"1983","unstructured":"Hagberg B, Aicardi J, Dias K, Ramos O (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett\u2019s syndrome: report of 35 cases. Ann Neurol 14(4):471\u2013479. https:\/\/doi.org\/10.1002\/ana.410140412","journal-title":"Ann Neurol"},{"key":"535_CR2","unstructured":"Christodoulou J, Ho G (1993) MECP2-related disorders. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong C-T, Mefford HC, Smith RJ, Stephens K (eds) GeneReviews(\u00ae). Seattle (WA): University of Washington, Seattle. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1497\/ (Accessed 23 Mar 2016)"},{"issue":"6","key":"535_CR3","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1002\/ana.22124","volume":"68","author":"JL Neul","year":"2010","unstructured":"Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey MES, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK, RettSearch Consortium (2010) Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 68(6):944\u2013950. https:\/\/doi.org\/10.1002\/ana.22124","journal-title":"Ann Neurol"},{"issue":"16","key":"535_CR4","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1212\/01.wnl.0000291011.54508.aa","volume":"70","author":"JL Neul","year":"2008","unstructured":"Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG (2008) Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 70(16):1313\u20131321. https:\/\/doi.org\/10.1212\/01.wnl.0000291011.54508.aa","journal-title":"Neurology"},{"issue":"29","key":"535_CR5","doi-asserted-by":"publisher","first-page":"10021","DOI":"10.1523\/JNEUROSCI.1316-12.2012","volume":"32","author":"MVC Nguyen","year":"2012","unstructured":"Nguyen MVC, Du F, Felice CA, Shan X, Nigam A, Mandel G, Robinson JK, Ballas N (2012) MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain. J Neurosci 32(29):10021\u201310034. https:\/\/doi.org\/10.1523\/JNEUROSCI.1316-12.2012","journal-title":"J Neurosci"},{"key":"535_CR6","doi-asserted-by":"publisher","unstructured":"Gold WA, Christodoulou J (2015) The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome. Front Cell Neurosci 9. https:\/\/doi.org\/10.3389\/fncel.2015.00266","DOI":"10.3389\/fncel.2015.00266"},{"issue":"12","key":"535_CR7","doi-asserted-by":"publisher","first-page":"1343","DOI":"10.1007\/s00439-016-1721-3","volume":"135","author":"M Lucariello","year":"2016","unstructured":"Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalf\u00f3 E, Dopazo J, Jurado P, Armstrong J, Esteller M (2016) Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet 135(12):1343\u20131354. https:\/\/doi.org\/10.1007\/s00439-016-1721-3","journal-title":"Hum Genet"},{"issue":"3","key":"535_CR8","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1136\/jmedgenet-2015-103568","volume":"53","author":"F Lopes","year":"2016","unstructured":"Lopes F, Barbosa M, Ameur A, Soares G, de S\u00e1 J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syv\u00e4nen A-C, Gyllensten U, Pinto D, Maciel P (2016) Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet Published Online First: 6 January 53(3):190\u2013199. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103568","journal-title":"J Med Genet"},{"issue":"4","key":"535_CR9","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1002\/ana.24251","volume":"76","author":"S Srivastava","year":"2014","unstructured":"Srivastava S, Cohen JS, Vernon H, Bara\u00f1ano K, McClellan R, Jamal L, Naidu S, Fatemi A (2014) Clinical whole exome sequencing in child neurology practice. Ann Neurol 76(4):473\u2013483. https:\/\/doi.org\/10.1002\/ana.24251","journal-title":"Ann Neurol"},{"issue":"1","key":"535_CR10","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/gim.2016.42","volume":"19","author":"SA Sajan","year":"2017","unstructured":"Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Anese F, Friez MJ, Jane L, Percy AK, Neul JL (2017) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19(1):13\u201319. https:\/\/doi.org\/10.1038\/gim.2016.42","journal-title":"Genet Med"},{"issue":"6","key":"535_CR11","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1111\/cge.12698","volume":"89","author":"JS Lee","year":"2016","unstructured":"Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae J-H (2016) SATB2-associated syndrome presenting with Rett-like phenotypes. Clin Genet 89(6):728\u2013732. https:\/\/doi.org\/10.1111\/cge.12698","journal-title":"Clin Genet"},{"issue":"8","key":"535_CR12","doi-asserted-by":"publisher","first-page":"2200","DOI":"10.1002\/ajmg.a.37773","volume":"170","author":"JS Lee","year":"2016","unstructured":"Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae J-H (2016) GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: masquerading as Rett syndrome-like phenotype. Am J Med Genet A 170(8):2200\u20132205. https:\/\/doi.org\/10.1002\/ajmg.a.37773","journal-title":"Am J Med Genet A"},{"issue":"10","key":"535_CR13","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/jhg.2014.71","volume":"59","author":"H Saitsu","year":"2014","unstructured":"Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y-I, Nishino I, Ohtake A, King M-C, Matsumoto N (2014) A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet 59(10):581\u2013583. https:\/\/doi.org\/10.1038\/jhg.2014.71","journal-title":"J Hum Genet"},{"issue":"6","key":"535_CR14","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1016\/S0168-9525(03)00111-2","volume":"19","author":"OJ Lehmann","year":"2003","unstructured":"Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS (2003) Fox\u2019s in development and disease. Trends Genet 19(6):339\u2013344. https:\/\/doi.org\/10.1016\/S0168-9525(03)00111-2","journal-title":"Trends Genet"},{"issue":"3-5","key":"535_CR15","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1159\/000327329","volume":"2","author":"C Florian","year":"2012","unstructured":"Florian C, Bahi-Buisson N, Bienvenu T (2012) FOXG1-related disorders: from clinical description to molecular genetics. Mol Syndromol 2(3-5):153\u2013163","journal-title":"Mol Syndromol"},{"issue":"6","key":"535_CR16","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1136\/jmg.2010.087528","volume":"48","author":"F Kort\u00fcm","year":"2011","unstructured":"Kort\u00fcm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 48(6):396\u2013406. https:\/\/doi.org\/10.1136\/jmg.2010.087528","journal-title":"J Med Genet"},{"issue":"1","key":"535_CR17","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","volume":"83","author":"F Ariani","year":"2008","unstructured":"Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83(1):89\u201393. https:\/\/doi.org\/10.1016\/j.ajhg.2008.05.015","journal-title":"Am J Hum Genet"},{"issue":"6","key":"535_CR18","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1159\/000330755","volume":"1","author":"N Van der Aa","year":"2011","unstructured":"Van der Aa N, Van den Bergh M, Ponomarenko N, Verstraete L, Ceulemans B, Storm K (2011) Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Mol Syndromol 1(6):290\u2013293. https:\/\/doi.org\/10.1159\/000330755","journal-title":"Mol Syndromol"},{"issue":"9","key":"535_CR19","doi-asserted-by":"publisher","first-page":"2017","DOI":"10.1002\/ajmg.a.37132","volume":"167A","author":"HE Olson","year":"2015","unstructured":"Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A (2015) Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A 167A(9):2017\u20132025. https:\/\/doi.org\/10.1002\/ajmg.a.37132","journal-title":"Am J Med Genet A"},{"issue":"3","key":"535_CR20","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1111\/cge.12784","volume":"91","author":"L Allou","year":"2016","unstructured":"Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Mousta\u00efne A, Ruaud L, Roth V, Jonveaux P, Philippe C (2016) Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. Clin Genet Published Online First: 7 April 91(3):431\u2013440. https:\/\/doi.org\/10.1111\/cge.12784","journal-title":"Clin Genet"},{"issue":"4","key":"535_CR21","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1002\/ana.24263","volume":"76","author":"A Torkamani","year":"2014","unstructured":"Torkamani A, Bersell K, Jorge BS, Bjork RL, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL, Kearney JA (2014) De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol 76(4):529\u2013540. https:\/\/doi.org\/10.1002\/ana.24263","journal-title":"Ann Neurol"},{"issue":"5","key":"535_CR22","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1085\/jgp.201511444","volume":"146","author":"I Thiffault","year":"2015","unstructured":"Thiffault I, Speca DJ, Austin DC, Cobb MM, Eum KS, Safina NP, Grote L, Farrow EG, Miller N, Soden S, Kingsmore SF, Trimmer JS, Saunders CJ, Sack JT (2015) A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization. J Gen Physiol 146(5):399\u2013410. https:\/\/doi.org\/10.1085\/jgp.201511444","journal-title":"J Gen Physiol"},{"issue":"1","key":"535_CR23","doi-asserted-by":"publisher","first-page":"15199","DOI":"10.1038\/srep15199","volume":"5","author":"H Saitsu","year":"2015","unstructured":"Saitsu H, Akita T, Tohyama J, Goldberg-Stern H, Kobayashi Y, Cohen R, Kato M, Ohba C, Miyatake S, Tsurusaki Y, Nakashima M, Miyake N, Fukuda A, Matsumoto N (2015) De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep 5(1):15199. https:\/\/doi.org\/10.1038\/srep15199","journal-title":"Sci Rep"},{"issue":"1","key":"535_CR24","doi-asserted-by":"publisher","first-page":"e12","DOI":"10.1111\/epi.13250","volume":"57","author":"NM Allen","year":"2016","unstructured":"Allen NM, Conroy J, Shahwan A, Lynch B, Correa RG, Pena SDJ, McCreary D, Magalh\u00e3es TR, Ennis S, Lynch SA, King MD (2016) Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion. Epilepsia 57(1):e12\u2013e17. https:\/\/doi.org\/10.1111\/epi.13250","journal-title":"Epilepsia"},{"issue":"5","key":"535_CR25","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1038\/jhg.2016.154","volume":"62","author":"X Latypova","year":"2016","unstructured":"Latypova X, Matsumoto N, Vinceslas-Muller C, B\u00e9zieau S, Isidor B, Miyake N (2016) Novel KCNB1 mutation associated with non-syndromic intellectual disability. J Hum Genet Published Online First: 8 December 62(5):569\u2013573. https:\/\/doi.org\/10.1038\/jhg.2016.154","journal-title":"J Hum Genet"},{"issue":"7","key":"535_CR26","doi-asserted-by":"publisher","first-page":"1622","DOI":"10.1002\/ajmg.a.36498","volume":"164A","author":"S Johansson","year":"2014","unstructured":"Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, R\u00f8dningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G (2014) Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. Am J Med Genet A 164A(7):1622\u20131626. https:\/\/doi.org\/10.1002\/ajmg.a.36498","journal-title":"Am J Med Genet A"},{"issue":"5","key":"535_CR27","doi-asserted-by":"publisher","first-page":"1142","DOI":"10.1002\/ajmg.a.36989","volume":"167","author":"JJ Louw","year":"2015","unstructured":"Louw JJ, Corveleyn A, Jia Y, Hens G, Gewillig M, Devriendt K (2015) MEIS2 involvement in cardiac development, cleft palate, and intellectual disability. Am J Med Genet 167(5):1142\u20131146. https:\/\/doi.org\/10.1002\/ajmg.a.36989","journal-title":"Am J Med Genet"},{"issue":"9","key":"535_CR28","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1038\/jhg.2016.54","volume":"61","author":"A Fujita","year":"2016","unstructured":"Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N (2016) De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. J Hum Genet 61(9):835\u2013838. https:\/\/doi.org\/10.1038\/jhg.2016.54","journal-title":"J Hum Genet"},{"issue":"5","key":"535_CR29","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1086\/515582","volume":"80","author":"J Amiel","year":"2007","unstructured":"Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L (2007) Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 80(5):988\u2013993. https:\/\/doi.org\/10.1086\/515582","journal-title":"Am J Hum Genet"},{"issue":"10","key":"535_CR30","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1111\/j.1469-8749.2012.04339.x","volume":"54","author":"IDC Van Balkom","year":"2012","unstructured":"Van Balkom IDC, Vuijk PJ, Franssens M, Hoek HW, Hennekam RCM (2012) Development, cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child Neurol 54(10):925\u2013931. https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04339.x","journal-title":"Dev Med Child Neurol"},{"issue":"6","key":"535_CR31","doi-asserted-by":"publisher","first-page":"1708","DOI":"10.1093\/brain\/awt095","volume":"136","author":"SJ Hayflick","year":"2013","unstructured":"Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, H\u00e9ron D, Saunders DE, Kaminska M, Lin J-P, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P (2013) \u03b2-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 136(6):1708\u20131717. https:\/\/doi.org\/10.1093\/brain\/awt095","journal-title":"Brain"},{"issue":"12","key":"535_CR32","doi-asserted-by":"publisher","first-page":"3095","DOI":"10.1002\/ajmg.a.36779","volume":"164A","author":"N Okamoto","year":"2014","unstructured":"Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I (2014) Early manifestations of BPAN in a pediatric patient. Am J Med Genet A 164A(12):3095\u20133099. https:\/\/doi.org\/10.1002\/ajmg.a.36779","journal-title":"Am J Med Genet A"},{"issue":"5","key":"535_CR33","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1038\/jhg.2014.18","volume":"59","author":"C Ohba","year":"2014","unstructured":"Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N (2014) De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. J Hum Genet 59(5):292\u2013295. https:\/\/doi.org\/10.1038\/jhg.2014.18","journal-title":"J Hum Genet"},{"issue":"6","key":"535_CR34","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1038\/nrneurol.2011.64","volume":"7","author":"S Naidu","year":"2011","unstructured":"Naidu S, Johnston MV (2011) Neurodevelopmental disorders: clinical criteria for Rett syndrome. Nat Rev Neurol 7(6):312\u2013314. https:\/\/doi.org\/10.1038\/nrneurol.2011.64","journal-title":"Nat Rev Neurol"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-017-0535-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-017-0535-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-017-0535-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T03:02:06Z","timestamp":1660273326000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-017-0535-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["535"],"URL":"https:\/\/doi.org\/10.1007\/s10048-017-0535-3","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1]]},"assertion":[{"value":"1 August 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 December 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 December 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 January 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The Institution Review Board of the Johns Hopkins University School of Medicine approved this study under an IRB exemption protocol (IRB00098913).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"JC is a paid consultant for Invitae, and AF is a paid consultant for Ambry Genetics and Aevi Genomic Medicine.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}