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2. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. Bend EG; Aref-Eshghi E; Everman DB; Rogers RC; Cathey SS; Prijoles EJ; Lyons MJ; Davis H; Clarkson K; Gripp KW; Li D; Bhoj E; Zackai E; Mark P; Hakonarson H; Demmer LA; Levy MA; Kerkhof J; Stuart A; Rodenhiser D; Friez MJ; Stevenson RE; Schwartz CE; Sadikovic B Clin Epigenetics; 2019 Apr; 11(1):64. PubMed ID: 31029150 [TBL] [Abstract][Full Text] [Related]
3. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. van der Laan L; Lauffer P; Rooney K; Silva A; Haghshenas S; Relator R; Levy MA; Trajkova S; Huisman SA; Bijlsma EK; Kleefstra T; van Bon BW; Baysal Ö; Zweier C; Palomares-Bralo M; Fischer J; Szakszon K; Faivre L; Piton A; Mesman S; Hochstenbach R; Elting MW; van Hagen JM; Plomp AS; Mannens MMAM; Alders M; van Haelst MM; Ferrero GB; Brusco A; Henneman P; Sweetser DA; Sadikovic B; Vitobello A; Menke LA HGG Adv; 2024 Jul; 5(3):100289. PubMed ID: 38571311 [TBL] [Abstract][Full Text] [Related]
4. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. Husson T; Lecoquierre F; Nicolas G; Richard AC; Afenjar A; Audebert-Bellanger S; Badens C; Bilan F; Bizaoui V; Boland A; Bonnet-Dupeyron MN; Brischoux-Boucher E; Bonnet C; Bournez M; Boute O; Brunelle P; Caumes R; Charles P; Chassaing N; Chatron N; Cogné B; Colin E; Cormier-Daire V; Dard R; Dauriat B; Delanne J; Deleuze JF; Demurger F; Denommé-Pichon AS; Depienne C; Dieux A; Dubourg C; Edery P; El Chehadeh S; Faivre L; Fergelot P; Fradin M; Garde A; Geneviève D; Gilbert-Dussardier B; Goizet C; Goldenberg A; Gouy E; Guerrot AM; Guimier A; Harzalla I; Héron D; Isidor B; Lacombe D; Le Guillou Horn X; Keren B; Kuechler A; Lacaze E; Lavillaureix A; Lehalle D; Lesca G; Lespinasse J; Levy J; Lyonnet S; Morel G; Jean-Marçais N; Marlin S; Marsili L; Mignot C; Nambot S; Nizon M; Olaso R; Pasquier L; Perrin L; Petit F; Pingault V; Piton A; Prieur F; Putoux A; Planes M; Odent S; Quélin C; Quemener-Redon S; Rama M; Rio M; Rossi M; Schaefer E; Rondeau S; Saugier-Veber P; Smol T; Sigaudy S; Touraine R; Mau-Them FT; Trimouille A; Van Gils J; Vanlerberghe C; Vantalon V; Vera G; Vincent M; Ziegler A; Guillin O; Campion D; Charbonnier C Eur J Hum Genet; 2024 Feb; 32(2):190-199. PubMed ID: 37872275 [TBL] [Abstract][Full Text] [Related]
5. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Santen GW; Aten E; Vulto-van Silfhout AT; Pottinger C; van Bon BW; van Minderhout IJ; Snowdowne R; van der Lans CA; Boogaard M; Linssen MM; Vijfhuizen L; van der Wielen MJ; Vollebregt MJ; ; Breuning MH; Kriek M; van Haeringen A; den Dunnen JT; Hoischen A; Clayton-Smith J; de Vries BB; Hennekam RC; van Belzen MJ Hum Mutat; 2013 Nov; 34(11):1519-28. PubMed ID: 23929686 [TBL] [Abstract][Full Text] [Related]
6. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Kosho T; Okamoto N; Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):262-75. PubMed ID: 25168959 [TBL] [Abstract][Full Text] [Related]
7. Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders. Sadikovic B; Levy MA; Aref-Eshghi E Hum Mol Genet; 2020 Sep; 29(R1):R27-R32. PubMed ID: 32644126 [TBL] [Abstract][Full Text] [Related]
8. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. Vos N; Haghshenas S; van der Laan L; Russel PKM; Rooney K; Levy MA; Relator R; Kerkhof J; McConkey H; Maas SM; Vissers LELM; de Vries BBA; Pfundt R; Elting MW; van Hagen JM; Verbeek NE; Jongmans MCJ; Lakeman P; Rumping L; Bosch DGM; Vitobello A; Thauvin-Robinet C; Faivre L; Nambot S; Garde A; Willems M; Genevieve D; Nicolas G; Busa T; Toutain A; Gérard M; Bizaoui V; Isidor B; Merla G; Accadia M; Schwartz CE; Ounap K; Hoffer MJV; Nezarati MM; van den Boogaard MH; Tedder ML; Rogers C; Brusco A; Ferrero GB; Spodenkiewicz M; Sidlow R; Mussa A; Trajkova S; McCann E; Mroczkowski HJ; Jansen S; Donker-Kaat L; Duijkers FAM; Stuurman KE; Mannens MMAM; Alders M; Henneman P; White SM; Sadikovic B; van Haelst MM Hum Genet; 2024 Jun; 143(6):761-773. PubMed ID: 38787418 [TBL] [Abstract][Full Text] [Related]
9. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with Vos N; Reilly J; Elting MW; Campeau PM; Coman D; Stark Z; Tan TY; Amor DJ; Kaur S; StJohn M; Morgan AT; Kamien BA; Patel C; Tedder ML; Merla G; Prontera P; Castori M; Muru K; Collins F; Christodoulou J; Smith J; Zeev BB; Murgia A; Leonardi E; Esber N; Martinez-Monseny A; Casas-Alba D; Wallis M; Mannens M; Levy MA; Relator R; Alders M; Sadikovic B Epigenomics; 2023 Mar; 15(6):351-367. PubMed ID: 37249002 [TBL] [Abstract][Full Text] [Related]
10. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. Aref-Eshghi E; Bend EG; Hood RL; Schenkel LC; Carere DA; Chakrabarti R; Nagamani SCS; Cheung SW; Campeau PM; Prasad C; Siu VM; Brady L; Tarnopolsky MA; Callen DJ; Innes AM; White SM; Meschino WS; Shuen AY; Paré G; Bulman DE; Ainsworth PJ; Lin H; Rodenhiser DI; Hennekam RC; Boycott KM; Schwartz CE; Sadikovic B Nat Commun; 2018 Nov; 9(1):4885. PubMed ID: 30459321 [TBL] [Abstract][Full Text] [Related]
11. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. Aref-Eshghi E; Kerkhof J; Pedro VP; ; Barat-Houari M; Ruiz-Pallares N; Andrau JC; Lacombe D; Van-Gils J; Fergelot P; Dubourg C; Cormier-Daire V; Rondeau S; Lecoquierre F; Saugier-Veber P; Nicolas G; Lesca G; Chatron N; Sanlaville D; Vitobello A; Faivre L; Thauvin-Robinet C; Laumonnier F; Raynaud M; Alders M; Mannens M; Henneman P; Hennekam RC; Velasco G; Francastel C; Ulveling D; Ciolfi A; Pizzi S; Tartaglia M; Heide S; Héron D; Mignot C; Keren B; Whalen S; Afenjar A; Bienvenu T; Campeau PM; Rousseau J; Levy MA; Brick L; Kozenko M; Balci TB; Siu VM; Stuart A; Kadour M; Masters J; Takano K; Kleefstra T; de Leeuw N; Field M; Shaw M; Gecz J; Ainsworth PJ; Lin H; Rodenhiser DI; Friez MJ; Tedder M; Lee JA; DuPont BR; Stevenson RE; Skinner SA; Schwartz CE; Genevieve D; Sadikovic B Am J Hum Genet; 2020 Mar; 106(3):356-370. PubMed ID: 32109418 [TBL] [Abstract][Full Text] [Related]
12. Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type. Haghshenas S; Levy MA; Kerkhof J; Aref-Eshghi E; McConkey H; Balci T; Siu VM; Skinner CD; Stevenson RE; Sadikovic B; Schwartz C Int J Mol Sci; 2021 Jan; 22(3):. PubMed ID: 33498634 [TBL] [Abstract][Full Text] [Related]
13. DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications. Rooney K; Sadikovic B Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887210 [TBL] [Abstract][Full Text] [Related]
14. Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs). Giuili E; Grolaux R; Macedo CZNM; Desmyter L; Pichon B; Neuens S; Vilain C; Olsen C; Van Dooren S; Smits G; Defrance M Hum Genet; 2023 Dec; 142(12):1721-1735. PubMed ID: 37889307 [TBL] [Abstract][Full Text] [Related]
15. DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7. van der Laan L; Karimi K; Rooney K; Lauffer P; McConkey H; Caro P; Relator R; Levy MA; Bhai P; Mignot C; Keren B; Briuglia S; Sobering AK; Li D; Vissers LELM; Dingemans AJM; Valenzuela I; Verberne EA; Misra-Isrie M; Zwijnenburg PJG; Waisfisz Q; Alders M; Sailer S; Schaaf CP; Mannens MMAM; Sadikovic B; van Haelst MM; Henneman P Genet Med; 2024 Mar; 26(3):101050. PubMed ID: 38126281 [TBL] [Abstract][Full Text] [Related]
16. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. Kerkhof J; Squeo GM; McConkey H; Levy MA; Piemontese MR; Castori M; Accadia M; Biamino E; Della Monica M; Di Giacomo MC; Gervasini C; Maitz S; Melis D; Milani D; Piccione M; Prontera P; Selicorni A; Sadikovic B; Merla G Genet Med; 2022 Jan; 24(1):51-60. PubMed ID: 34906459 [TBL] [Abstract][Full Text] [Related]
17. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Karayol R; Borroto MC; Haghshenas S; Namasivayam A; Reilly J; Levy MA; Relator R; Kerkhof J; McConkey H; Shvedunova M; Petersen AK; Magnussen K; Zweier C; Vasileiou G; Reis A; Savatt JM; Mulligan MR; Bicknell LS; Poke G; Abu-El-Haija A; Duis J; Hannig V; Srivastava S; Barkoudah E; Hauser NS; van den Born M; Hamiel U; Henig N; Baris Feldman H; McKee S; Krapels IPC; Lei Y; Todorova A; Yordanova R; Atemin S; Rogac M; McConnell V; Chassevent A; Barañano KW; Shashi V; Sullivan JA; Peron A; Iascone M; Canevini MP; Friedman J; Reyes IA; Kierstein J; Shen JJ; Ahmed FN; Mao X; Almoguera B; Blanco-Kelly F; Platzer K; Treu AB; Quilichini J; Bourgois A; Chatron N; Januel L; Rougeot C; Carere DA; Monaghan KG; Rousseau J; Myers KA; Sadikovic B; Akhtar A; Campeau PM Am J Hum Genet; 2024 Jul; 111(7):1330-1351. PubMed ID: 38815585 [TBL] [Abstract][Full Text] [Related]
18. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Lee S; Menzies L; Hay E; Ochoa E; Docquier F; Rodger F; Deshpande C; Foulds NC; Jacquemont S; Jizi K; Kiep H; Kraus A; Löhner K; Morrison PJ; Popp B; Richardson R; van Haeringen A; Martin E; Toribio A; Li F; Jones WD; Sansbury FH; Maher ER Hum Mol Genet; 2023 Nov; 32(22):3123-3134. PubMed ID: 37166351 [TBL] [Abstract][Full Text] [Related]
19. DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. Rooney K; van der Laan L; Trajkova S; Haghshenas S; Relator R; Lauffer P; Vos N; Levy MA; Brunetti-Pierri N; Terrone G; Mignot C; Keren B; de Villemeur TB; Volker-Touw CML; Verbeek N; van der Smagt JJ; Oegema R; Brusco A; Ferrero GB; Misra-Isrie M; Hochstenbach R; Alders M; Mannens MMAM; Sadikovic B; van Haelst MM; Henneman P Genet Med; 2023 Aug; 25(8):100871. PubMed ID: 37120726 [TBL] [Abstract][Full Text] [Related]