Bjornsson HT. The Mendelian disorders of the epigenetic machinery. Genome Res. 2015;25(10):1473–81.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ho L, Crabtree GR. Chromatin remodelling during development. Nature. 2010;463(7280):474–84.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet. 2005;14(4):535–42.
Article
CAS
PubMed
Google Scholar
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of kabuki syndrome. Nat Genet. 2010;42(9):790–3.
Article
CAS
PubMed
PubMed Central
Google Scholar
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, et al. Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability. Am J Hum Genet. 2017;100(5):725–36.
Article
CAS
PubMed
PubMed Central
Google Scholar
Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, et al. NSD1 mutations generate a genome-wide DNA methylation signature. Nat Commun. 2015;6:10207.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, et al. Patients with a kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Eur J Hum Genet. 2017;25(12):1335–44.
Article
CAS
PubMed
PubMed Central
Google Scholar
Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, et al. CHARGE and kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions. Am J Hum Genet. 2017;100(5):773–88.
Article
CAS
PubMed
PubMed Central
Google Scholar
Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, et al. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. BMC Med Genet. 2013;6:1.
CAS
Google Scholar
Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, et al. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin Epigenetics. 2019; (in press).
Kernohan KD, Cigana Schenkel L, Huang L, Smith A, Pare G, Ainsworth P, et al. Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016;8:91.
Article
PubMed
PubMed Central
Google Scholar
Leong IU, Stuckey A, Lai D, Skinner JR, Love DR. Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations. BMC Med Genet. 2015;16:34.
Article
PubMed
PubMed Central
Google Scholar
Grimm DG, Azencott CA, Aicheler F, Gieraths U, MacArthur DG, Samocha KE, et al. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat. 2015;36(5):513–23.
Article
PubMed
PubMed Central
Google Scholar
Witters I, Fryns JP. Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? Genet Couns. 2003;14(2):245–7.
CAS
PubMed
Google Scholar
Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A. Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol. 2003;12(4):237–40.
Article
PubMed
Google Scholar
Krajewska-Walasek M, Chrzanowska K, Czermiska-Kowalska A. Another patient with an unusual syndrome of mental retardation and sparse hair? Clin Dysmorphol. 1996;5(2):183–6.
Article
CAS
PubMed
Google Scholar
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, et al. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012;44(4):445–9 s1.
Article
PubMed
CAS
Google Scholar
Loe-Mie Y, Lepagnol-Bestel AM, Maussion G, Doron-Faigenboim A, Imbeaud S, Delacroix H, et al. SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution. Hum Mol Genet. 2010;19(14):2841–57.
Article
CAS
PubMed
Google Scholar
Sokpor G, Xie Y, Rosenbusch J, Tuoc T. Chromatin remodeling BAF (SWI/SNF) complexes in neural development and disorders. Front Mol Neurosci. 2017;10:243.
Article
PubMed
PubMed Central
CAS
Google Scholar
Euskirchen G, Auerbach RK, Snyder M. SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions. J Biol Chem. 2012;287(37):30897–905.
Article
CAS
PubMed
PubMed Central
Google Scholar
Savas S, Skardasi G. The SWI/SNF complex subunit genes: their functions, variations, and links to risk and survival outcomes in human cancers. Crit Rev Oncol Hematol. 2018;123:114–31.
Article
PubMed
Google Scholar
Bogershausen N, Wollnik B. Mutational landscapes and phenotypic Spectrum of SWI/SNF-related intellectual disability disorders. Front Mol Neurosci. 2018;11:252.
Article
PubMed
PubMed Central
CAS
Google Scholar
Tang S, Hughes E, Lascelles K, Simpson MA, Pal DK. New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. Am J Med Genet A. 2017;173(1):195–9.
Article
CAS
PubMed
Google Scholar
Bramswig NC, Ludecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, et al. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet. 2015;134(6):553–68.
Article
CAS
PubMed
Google Scholar
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, et al. Mutations affecting components of the SWI/SNF complex cause coffin-Siris syndrome. Nat Genet. 2012;44(4):376–8.
Article
CAS
PubMed
Google Scholar
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, et al. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause coffin-Siris syndrome. Nat Genet. 2012;44(4):379–80.
Article
CAS
PubMed
Google Scholar
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, et al. Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. Brain and Development. 2015;37(5):527–36.
Article
PubMed
Google Scholar
Wieczorek D, Bogershausen N, Beleggia F, Steiner-Haldenstatt S, Pohl E, Li Y, et al. A comprehensive molecular study on coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22(25):5121–35.
Article
CAS
PubMed
Google Scholar
Ejaz R, Babul-Hirji R, Chitayat D. The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up. Clin Case Rep. 2016;4(4):351–5.
Article
PubMed
PubMed Central
Google Scholar
Hanna GL, Liu Y, Isaacs YE, Ayoub AM, Torres JJ, O'Hara NB, et al. Withdrawn/depressed behaviors and error-related brain activity in youth with obsessive-compulsive disorder. J Am Acad Child Adolesc Psychiatry. 2016;55(10):906–13 e2.
Article
PubMed
PubMed Central
Google Scholar
Chen YA, Choufani S, Grafodatskaya D, Butcher DT, Ferreira JC, Weksberg R. Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation. Am J Hum Genet. 2012;91(4):762–4.
Article
CAS
PubMed
PubMed Central
Google Scholar
Salas LA, Koestler DC, Butler RA, Hansen HM, Wiencke JK, Kelsey KT, et al. An optimized library for reference-based deconvolution of whole-blood biospecimens assayed using the Illumina HumanMethylationEPIC BeadArray. Genome Biol. 2018;19(1):64.
Article
PubMed
PubMed Central
CAS
Google Scholar
Horvath S. DNA methylation age of human tissues and cell types. Genome Biol. 2013;14(10):R115.
Article
PubMed
PubMed Central
Google Scholar
Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, et al. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of coffin-Siris and Nicolaides-Baraitser syndromes. Nat Commun. 2018;9(1):4885.
Article
PubMed
PubMed Central
CAS
Google Scholar
McLean CY, Bristor D, Hiller M, Clarke SL, Schaar BT, Lowe CB, et al. GREAT improves functional interpretation of cis-regulatory regions. Nat Biotechnol. 2010;28(5):495–501.
Article
CAS
PubMed
PubMed Central
Google Scholar
Jaffe AE, Murakami P, Lee H, Leek JT, Fallin MD, Feinberg AP, et al. Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies. Int J Epidemiol. 2012;41(1):200–9.
Article
PubMed
PubMed Central
Google Scholar
Li D, Xie Z, Pape ML, Dye T. An evaluation of statistical methods for DNA methylation microarray data analysis. BMC Bioinformatics. 2015;16:217.
Article
PubMed
PubMed Central
Google Scholar
Wolff D, Endele S, Azzarello-Burri S, Hoyer J, Zweier M, Schanze I, et al. In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Mol Syndromol. 2012;2(6):237–44.
CAS
PubMed
PubMed Central
Google Scholar
Sousa SB, Hennekam RC. Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet. 2014;166c(3):302–14.
Article
PubMed
CAS
Google Scholar
Moreno-De-Luca A, Ledbetter DH, Martin CL. Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies. Lancet Neurol. 2012;11(3):283–92.
Article
CAS
PubMed
PubMed Central
Google Scholar
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, et al. TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat. 2008;29(11):E242–51.
Article
PubMed
Google Scholar
Eckle VS, Shcheglovitov A, Vitko I, Dey D, Yap CC, Winckler B, et al. Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility. J Physiol. 2014;592(4):795–809.
Article
CAS
PubMed
PubMed Central
Google Scholar
Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT. CACNA1H mutations in autism spectrum disorders. J Biol Chem. 2006;281(31):22085–91.
Article
CAS
PubMed
Google Scholar
Lawrence HJ, Sauvageau G, Humphries RK, Largman C. The role of HOX homeobox genes in normal and leukemic hematopoiesis. Stem Cells. 1996;14(3):281–91.
Article
CAS
PubMed
Google Scholar
Sugimura R, He XC, Venkatraman A, Arai F, Box A, Semerad C, et al. Noncanonical Wnt signaling maintains hematopoietic stem cells in the niche. Cell. 2012;150(2):351–65.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, Dunia I, et al. Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development. 2002;129(1):167–74.
CAS
PubMed
Google Scholar
Vimalraj S, Arumugam B, Miranda PJ, Selvamurugan N. Runx2: structure, function, and phosphorylation in osteoblast differentiation. Int J Biol Macromol. 2015;78:202–8.
Article
CAS
PubMed
Google Scholar
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell. 1997;89(5):773–9.
Article
CAS
PubMed
Google Scholar
Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, et al. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. Am J Hum Genet. 2013;92(2):252–8.
Article
CAS
PubMed
PubMed Central
Google Scholar
Trollmann R, Rehrauer H, Schneider C, Krischke G, Huemmler N, Keller S, et al. Late-gestational systemic hypoxia leads to a similar early gene response in mouse placenta and developing brain. Am J Physiol Regul Integr Comp Physiol. 2010;299(6):R1489–99.
Article
CAS
PubMed
Google Scholar
Richmond RC, Sharp GC, Ward ME, Fraser A, Lyttleton O, McArdle WL, et al. DNA methylation and BMI: investigating identified methylation sites at HIF3A in a causal framework. Diabetes. 2016;65(5):1231–44.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sen-Chowdhry S, McKenna WJ. When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy. Cell Commun Adhes. 2014;21(1):3–11.
Article
PubMed
Google Scholar