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7. 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]
8. 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]
9. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals. Sabbagh Q; Haghshenas S; Piard J; Trouvé C; Amiel J; Attié-Bitach T; Balci T; Barat-Houari M; Belonis A; Boute O; Brightman DS; Bruel AL; Caraffi SG; Chatron N; Collet C; Dufour W; Edery P; Fong CT; Fusco C; Gatinois V; Gouy E; Guerrot AM; Heide S; Joshi A; Karp N; Keren B; Lesieur-Sebellin M; Levy J; Levy MA; Lozano C; Lyonnet S; Margot H; Marzin P; McConkey H; Michaud V; Nicolas G; Nizard M; Paulet A; Peluso F; Pernin V; Perrin L; Philippe C; Prasad C; Prasad M; Relator R; Rio M; Rondeau S; Ruault V; Ruiz-Pallares N; Sanchez E; Shears D; Siu VM; Sorlin A; Tedder M; Tharreau M; Mau-Them FT; van der Laan L; Van Gils J; Verloes A; Whalen S; Willems M; Yauy K; Zuntini R; Kerkhof J; Sadikovic B; Geneviève D Genet Med; 2024 Jan; 26(1):101007. PubMed ID: 37860968 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411 [TBL] [Abstract][Full Text] [Related]
12. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. Rouxel F; Relator R; Kerkhof J; McConkey H; Levy M; Dias P; Barat-Houari M; Bednarek N; Boute O; Chatron N; Cherik F; Delahaye-Duriez A; Doco-Fenzy M; Faivre L; Gauthier LW; Heron D; Hildebrand MS; Lesca G; Lespinasse J; Mazel B; Menke LA; Morgan AT; Pinson L; Quelin C; Rossi M; Ruiz-Pallares N; Tran-Mau-Them F; Van Kessel IN; Vincent M; Weber M; Willems M; Leguyader G; Sadikovic B; Genevieve D Genet Med; 2022 May; 24(5):1096-1107. PubMed ID: 35063350 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. Breen MS; Garg P; Tang L; Mendonca D; Levy T; Barbosa M; Arnett AB; Kurtz-Nelson E; Agolini E; Battaglia A; Chiocchetti AG; Freitag CM; Garcia-Alcon A; Grammatico P; Hertz-Picciotto I; Ludena-Rodriguez Y; Moreno C; Novelli A; Parellada M; Pascolini G; Tassone F; Grice DE; Di Marino D; Bernier RA; Kolevzon A; Sharp AJ; Buxbaum JD; Siper PM; De Rubeis S Am J Hum Genet; 2020 Sep; 107(3):555-563. PubMed ID: 32758449 [TBL] [Abstract][Full Text] [Related]
15. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for Foroutan A; Haghshenas S; Bhai P; Levy MA; Kerkhof J; McConkey H; Niceta M; Ciolfi A; Pedace L; Miele E; Genevieve D; Heide S; Alders M; Zampino G; Merla G; Fradin M; Bieth E; Bonneau D; Dieterich K; Fergelot P; Schaefer E; Faivre L; Vitobello A; Maitz S; Fischetto R; Gervasini C; Piccione M; van de Laar I; Tartaglia M; Sadikovic B; Lebre AS Int J Mol Sci; 2022 Feb; 23(3):. PubMed ID: 35163737 [TBL] [Abstract][Full Text] [Related]
16. Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome. Rooney K; Levy MA; Haghshenas S; Kerkhof J; Rogaia D; Tedesco MG; Imperatore V; Mencarelli A; Squeo GM; Di Venere E; Di Cara G; Verrotti A; Merla G; Tedder ML; DuPont BR; Sadikovic B; Prontera P Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445317 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders. Haghshenas S; Bhai P; Aref-Eshghi E; Sadikovic B Int J Mol Sci; 2020 Dec; 21(23):. PubMed ID: 33291301 [TBL] [Abstract][Full Text] [Related]
19. The discovery of the DNA methylation episignature for Duchenne muscular dystrophy. Schreyer L; Reilly J; McConkey H; Kerkhof J; Levy MA; Hu J; Hnaini M; Sadikovic B; Campbell C Neuromuscul Disord; 2023 Jan; 33(1):5-14. PubMed ID: 36572586 [TBL] [Abstract][Full Text] [Related]
20. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]