These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
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. 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]
10. 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]
11. 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]
12. Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders. Xiao B; Dai W; Zhan Y; Qiu W; Zhang H; Liu D; Xu N; Yu Y Genet Med; 2024 Aug; 26(8):101167. PubMed ID: 38770750 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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] [Next] [New Search]