Network from Scientific Research

Tree-and-leaf visualization of Euclidean clustering of theSRSF1cohort alongside the 56 other EpiSign disorders using the top n DMPs for each cohort, where n = 500 or the max number of DMPs available if <500. Cohort samples are aggregated using the median value of each probe within a group. Each leaf (node) represents a cohort, with node sizes illustrating relative scales of the number of selected DMPs for the corresponding cohort, and node colors indicative of the global mean methylation difference where blue is more hypomethylated and red hypermethylated. TheSRSF1cohort with confirmed pathogenic variants is highlighted in green. ADCADN, cerebellar ataxia deafness and narcolepsy syndrome; AUTS18, susceptibility to autism 18; BEFAHRS, Beck-Fahrner syndrome; BFLS, Borjeson-Forssman-Lehmann syndrome; BISS, blepharophimosis intellectual disability SMARCA2 syndrome; CdLS, Cornelia de Lange syndrome; CHARGE, CHARGE syndrome; Chr16p11.2del, chromosome 16p11.2 deletion syndrome; CSS, Coffin-Siris syndrome; CSS4, Coffin-Siris syndrome 4; CSS9, Coffin-Siris syndrome 9; Down, Down syndrome; Dup7, 7q11.23 duplication syndrome; DYT28, dystonia 28; EEOC, epileptic encephalopathy-childhood onset; FLHS, Floating-Harbor syndrome; GTPTS, genitopatellar syndrome; HMA, Hunter McAlpine craniosynostosis syndrome; HVDAS, Helsmoortel-van der Aa syndrome; ICF, immunodeficiency-centromeric instability-facial anomalies syndrome; IDDSELD, intellectual developmental disorder with seizures and language delay; Kabuki, Kabuki syndrome; KDVS, Koolen-De Vries syndrome; Kleefstra, Kleefstra syndrome; LLS, Luscan-Lumish syndrome; MKHK, Menke-Hennekam syndrome; MLASA2, myopathy lactic acidosis and sideroblastic anemia 2; MRD23, intellectual developmental disorder 23; MRD51, intellectual developmental disorder 51; MRX93, intellectual developmental disorder X-linked 93; MRX97, intellectual developmental disorder X-linked 97; MRXSA, intellectual developmental disorder X-linked syndromic Armfield type; MRXSCH, intellectual developmental disorder X-linked syndromic Christianson type; MRXSCJ, intellectual developmental disorder X-linked syndromic Claes-Jensen type; MRXSN, intellectual developmental disorder X-linked syndromic Nascimento type; MRXSSR, intellectual developmental disorder X-linked syndromic Snyder-Robinson type; PHMDS, Phelan-McDermid syndrome; PRC2, PRC2 complex (Weaver and Cohen-Gibson) syndrome; RENS1, Renpenning syndrome; RMNS, Rahman syndrome; RSTS, Rubinstein-Taybi syndrome; SBBYSS, Ohdo syndrome; Sotos, Sotos syndrome; TBRS, Tatton-Brown-Rahman syndrome; WDSTS, Wiedemann-Steiner syndrome; WHS, Wolf-Hirschhorn syndrome; Williams, Williams syndrome.

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