{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:23:51Z","timestamp":1790277831407,"version":"4.1.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2015,2,28]],"date-time":"2015-02-28T00:00:00Z","timestamp":1425081600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1007\/s00439-015-1535-8","type":"journal-article","created":{"date-parts":[[2015,2,27]],"date-time":"2015-02-27T04:18:19Z","timestamp":1425010699000},"page":"553-568","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin\u2013Siris and Nicolaides\u2013Baraitser syndromes"],"prefix":"10.1007","volume":"134","author":[{"given":"Nuria C.","family":"Bramswig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann-Josef","family":"L\u00fcdecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Barthelmie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koray","family":"Boduroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Braunholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almuth","family":"Caliebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna H.","family":"Chrzanowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna Christina","family":"Czeschik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Endele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Encarna","family":"Guill\u00e9n-Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin \u00d6zlem Simsek","family":"Kiper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanesa","family":"L\u00f3pez-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Parenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Pozojevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulen Eda","family":"Utine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Wieland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J.","family":"Kaiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,2,28]]},"reference":[{"key":"1535_CR1","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1159\/000330111","volume":"1","author":"S Berland","year":"2011","unstructured":"Berland S, Alme K, Brendehaug A, Houge G, Hovland R (2011) PHF6 deletions may cause Borjeson\u2013Forssman\u2013Lehmann syndrome in females. Mol Syndromol. 1:294\u2013300. doi: 10.1159\/000330111","journal-title":"Mol Syndromol."},{"key":"1535_CR2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/cge.12051","volume":"83","author":"N Bogershausen","year":"2013","unstructured":"Bogershausen N, Wollnik B (2013) Unmasking Kabuki syndrome. Clin Genet 83:201\u2013211. doi: 10.1111\/cge.12051","journal-title":"Clin Genet"},{"key":"1535_CR3","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/ng.2727","volume":"45","author":"GL Carvill","year":"2013","unstructured":"Carvill GL et al (2013) GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 45:1073\u20131076. doi: 10.1038\/ng.2727","journal-title":"Nat Genet"},{"key":"1535_CR4","first-page":"433","volume":"119","author":"GS Coffin","year":"1970","unstructured":"Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433\u2013439","journal-title":"Am J Dis Child"},{"key":"1535_CR5","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1136\/jmg.2005.033084","volume":"43","author":"J Crawford","year":"2006","unstructured":"Crawford J et al (2006) Mutation screening in Borjeson\u2013Forssman\u2013Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J Med Genet 43:238\u2013243. doi: 10.1136\/jmg.2005.033084","journal-title":"J Med Genet"},{"key":"1535_CR6","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","volume":"367","author":"J Ligt de","year":"2012","unstructured":"de Ligt J et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921\u20131929. doi: 10.1056\/NEJMoa1206524","journal-title":"N Engl J Med"},{"key":"1535_CR7","author":"ML Dentici","year":"2014","unstructured":"Dentici ML et al (2014) Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child. doi: 10.1136\/archdischild-2013-305858","journal-title":"Arch Dis Child"},{"key":"1535_CR8","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1007\/s00246-010-9773-y","volume":"31","author":"MC Digilio","year":"2010","unstructured":"Digilio MC, Baban A, Marino B, Dallapiccola B (2010) Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol 31:1111\u20131113. doi: 10.1007\/s00246-010-9773-y","journal-title":"Pediatr Cardiol"},{"key":"1535_CR9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1933","volume":"39","author":"CM Durand","year":"2007","unstructured":"Durand CM et al (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25\u201327. doi: 10.1038\/ng1933","journal-title":"Nat Genet"},{"key":"1535_CR10","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1038\/ng.677","volume":"42","author":"S Endele","year":"2010","unstructured":"Endele S et al (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42:1021\u20131026. doi: 10.1038\/ng.677","journal-title":"Nat Genet"},{"key":"1535_CR11","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2012.02.007","volume":"90","author":"J Hoyer","year":"2012","unstructured":"Hoyer J et al (2012) Haploinsufficiency of ARID1B, a member of the SWI\/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 90:565\u2013572. doi: 10.1016\/j.ajhg.2012.02.007","journal-title":"Am J Hum Genet"},{"key":"1535_CR12","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ajhg.2012.06.008","volume":"91","author":"WD Jones","year":"2012","unstructured":"Jones WD et al (2012) De novo mutations in MLL cause Wiedemann\u2013Steiner syndrome. Am J Hum Genet 91:358\u2013364. doi: 10.1016\/j.ajhg.2012.06.008","journal-title":"Am J Hum Genet"},{"key":"1535_CR13","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1002\/ajmg.c.31407","volume":"166C","author":"T Kosho","year":"2014","unstructured":"Kosho T, Okamoto N (2014) Genotype\u2013phenotype correlation of Coffin\u2013Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet 166C:262\u2013275. doi: 10.1002\/ajmg.c.31407","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1535_CR14","doi-asserted-by":"crossref","first-page":"e1004580","DOI":"10.1371\/journal.pgen.1004580","volume":"10","author":"CS Leblond","year":"2014","unstructured":"Leblond CS et al (2014) Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet 10:e1004580. doi: 10.1371\/journal.pgen.1004580","journal-title":"PLoS Genet"},{"key":"1535_CR15","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/ng1040","volume":"32","author":"KM Lower","year":"2002","unstructured":"Lower KM et al (2002) Mutations in PHF6 are associated with Borjeson\u2013Forssman\u2013Lehmann syndrome. Nat Genet 32:661\u2013665. doi: 10.1038\/ng1040","journal-title":"Nat Genet"},{"key":"1535_CR16","first-page":"803","volume":"20","author":"R Malak","year":"2013","unstructured":"Malak R, Kotwicka M, Krawczyk-Wasielewska A, Mojs E, Samborski W (2013) Motor skills, cognitive development and balance functions of children with Down syndrome. Ann Agric Environ Med 20:803\u2013806","journal-title":"Ann Agric Environ Med"},{"key":"1535_CR17","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1097\/00019605-199307000-00007","volume":"2","author":"P Nicolaides","year":"1993","unstructured":"Nicolaides P, Baraitser M (1993) An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2:232\u2013236","journal-title":"Clin Dysmorphol"},{"key":"1535_CR18","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1159\/000334260","volume":"2","author":"K Phelan","year":"2012","unstructured":"Phelan K, McDermid HE (2012) The 22q13.3 deletion syndrome (Phelan\u2013McDermid syndrome). Mol Syndromol. 2:186\u2013201 (000334260)","journal-title":"Mol Syndromol."},{"key":"1535_CR19","doi-asserted-by":"crossref","first-page":"203","DOI":"10.2466\/pms.1994.79.1.203","volume":"79","author":"DJ Raggio","year":"1994","unstructured":"Raggio DJ, Massingale TW, Bass JD (1994) Comparison of Vineland Adaptive Behavior Scales-Survey Form age equivalent and standard score with the Bayley Mental Development Index. Percept Mot Skills 79:203\u2013206. doi: 10.2466\/pms.1994.79.1.203","journal-title":"Percept Mot Skills"},{"key":"1535_CR20","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/ng.2217","volume":"44","author":"GW Santen","year":"2012","unstructured":"Santen GW et al (2012) Mutations in SWI\/SNF chromatin remodeling complex gene ARID1B cause Coffin\u2013Siris syndrome. Nat Genet 44:379\u2013380. doi: 10.1038\/ng.2217","journal-title":"Nat Genet"},{"key":"1535_CR21","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.ajhg.2011.07.009","volume":"89","author":"R Shaheen","year":"2011","unstructured":"Shaheen R et al (2011) Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams\u2013Oliver syndrome. Am J Hum Genet 89:328\u2013333. doi: 10.1016\/j.ajhg.2011.07.009","journal-title":"Am J Hum Genet"},{"key":"1535_CR22","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/j.ajhg.2013.02.012","volume":"92","author":"R Shaheen","year":"2013","unstructured":"Shaheen R et al (2013) Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams\u2013Oliver syndrome. Am J Hum Genet 92:598\u2013604. doi: 10.1016\/j.ajhg.2013.02.012","journal-title":"Am J Hum Genet"},{"key":"1535_CR23","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/2040-2392-4-18","volume":"4","author":"L Soorya","year":"2013","unstructured":"Soorya L et al (2013) Prospective investigation of autism and genotype\u2013phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency Mol. Autism 4:18. doi: 10.1186\/2040-2392-4-18","journal-title":"Autism"},{"key":"1535_CR24","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/ajmg.c.31409","volume":"166C","author":"SB Sousa","year":"2014","unstructured":"Sousa SB, Hennekam RC (2014) Phenotype and genotype in Nicolaides\u2013Baraitser syndrome. Am J Med Genet C Semin Med Genet 166C:302\u2013314. doi: 10.1002\/ajmg.c.31409","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1535_CR25","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1002\/ajmg.a.32956","volume":"149A","author":"SB Sousa","year":"2009","unstructured":"Sousa SB et al (2009) Nicolaides\u2013Baraitser syndrome: delineation of the phenotype. Am J Med Genet A 149A:1628\u20131640. doi: 10.1002\/ajmg.a.32956","journal-title":"Am J Med Genet A"},{"key":"1535_CR26","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/1471-2350-15-49","volume":"15","author":"SP Strom","year":"2014","unstructured":"Strom SP et al (2014) De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann\u2013Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet 15:49. doi: 10.1186\/1471-2350-15-49","journal-title":"BMC Med Genet"},{"key":"1535_CR27","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng.2219","volume":"44","author":"Y Tsurusaki","year":"2012","unstructured":"Tsurusaki Y et al (2012) Mutations affecting components of the SWI\/SNF complex cause Coffin\u2013Siris syndrome. Nat Genet 44:376\u2013378. doi: 10.1038\/ng.2219","journal-title":"Nat Genet"},{"key":"1535_CR28","doi-asserted-by":"crossref","first-page":"4011","DOI":"10.1038\/ncomms5011","volume":"5","author":"Y Tsurusaki","year":"2014","unstructured":"Tsurusaki Y et al (2014) De novo SOX11 mutations cause Coffin\u2013Siris syndrome. Nat Commun 5:4011. doi: 10.1038\/ncomms5011","journal-title":"Nat Commun"},{"issue":"445\u2013449","key":"1535_CR29","first-page":"S441","volume":"44","author":"JK Houdt Van","year":"2012","unstructured":"Van Houdt JK et al (2012) Heterozygous missense mutations in SMARCA2 cause Nicolaides\u2013Baraitser syndrome. Nat Genet 44(445\u2013449):S441. doi: 10.1038\/ng.1105","journal-title":"Nat Genet"},{"key":"1535_CR30","doi-asserted-by":"crossref","first-page":"5121","DOI":"10.1093\/hmg\/ddt366","volume":"22","author":"D Wieczorek","year":"2013","unstructured":"Wieczorek D et al (2013) A comprehensive molecular study on Coffin\u2013Siris and Nicolaides\u2013Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 22:5121\u20135135. doi: 10.1093\/hmg\/ddt366","journal-title":"Hum Mol Genet"},{"key":"1535_CR31","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/nrc3068","volume":"11","author":"BG Wilson","year":"2011","unstructured":"Wilson BG, Roberts CW (2011) SWI\/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11:481\u2013492. doi: 10.1038\/nrc3068","journal-title":"Nat Rev Cancer"},{"key":"1535_CR32","first-page":"121","volume":"20","author":"SM Yuan","year":"2013","unstructured":"Yuan SM (2013) Congenital heart defects in Kabuki syndrome. Cardiol J 20:121\u2013124. doi: 10.5603\/CJ.2013.0023","journal-title":"Cardiol J"},{"key":"1535_CR33","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1002\/ajmg.c.31408","volume":"166C","author":"C Zweier","year":"2014","unstructured":"Zweier C et al (2014) Females with de novo aberrations in PHF6: clinical overlap of Borjeson\u2013Forssman\u2013Lehmann with Coffin\u2013Siris syndrome. Am J Med Genet C Semin Med Genet 166C:290\u2013301. doi: 10.1002\/ajmg.c.31408","journal-title":"Am J Med Genet C Semin Med Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-015-1535-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-015-1535-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-015-1535-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T18:05:22Z","timestamp":1691431522000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-015-1535-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,28]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["1535"],"URL":"https:\/\/doi.org\/10.1007\/s00439-015-1535-8","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,28]]}}}