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.
7. 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]
8. DNA methylation episignature in Gabriele-de Vries syndrome. Cherik F; Reilly J; Kerkhof J; Levy M; McConkey H; Barat-Houari M; Butler KM; Coubes C; Lee JA; Le Guyader G; Louie RJ; Patterson WG; Tedder ML; Bak M; Hammer TB; Craigen W; Démurger F; Dubourg C; Fradin M; Franciskovich R; Frengen E; Friedman J; Palares NR; Iascone M; Misceo D; Monin P; Odent S; Philippe C; Rouxel F; Saletti V; Strømme P; Thulin PC; Sadikovic B; Genevieve D Genet Med; 2022 Apr; 24(4):905-914. PubMed ID: 35027293 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Episignature Mapping of van der Laan L; Rooney K; Alders M; Relator R; McConkey H; Kerkhof J; Levy MA; Lauffer P; Aerden M; Theunis M; Legius E; Tedder ML; Vissers LELM; Koene S; Ruivenkamp C; Hoffer MJV; Wieczorek D; Bramswig NC; Herget T; González VL; Santos-Simarro F; Tørring PM; Denomme-Pichon AS; Isidor B; Keren B; Julia S; Schaefer E; Francannet C; Maillard PY; Misra-Isrie M; Van Esch H; Mannens MMAM; Sadikovic B; van Haelst MM; Henneman P Int J Mol Sci; 2022 Nov; 23(22):. PubMed ID: 36430143 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
14. 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]
15. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. van Jaarsveld RH; Reilly J; Cornips MC; Hadders MA; Agolini E; Ahimaz P; Anyane-Yeboa K; Bellanger SA; van Binsbergen E; van den Boogaard MJ; Brischoux-Boucher E; Caylor RC; Ciolfi A; van Essen TAJ; Fontana P; Hopman S; Iascone M; Javier MM; Kamsteeg EJ; Kerkhof J; Kido J; Kim HG; Kleefstra T; Lonardo F; Lai A; Lev D; Levy MA; Lewis MES; Lichty A; Mannens MMAM; Matsumoto N; Maya I; McConkey H; Megarbane A; Michaud V; Miele E; Niceta M; Novelli A; Onesimo R; Pfundt R; Popp B; Prijoles E; Relator R; Redon S; Rots D; Rouault K; Saida K; Schieving J; Tartaglia M; Tenconi R; Uguen K; Verbeek N; Walsh CA; Yosovich K; Yuskaitis CJ; Zampino G; Sadikovic B; Alders M; Oegema R Genet Med; 2023 Jan; 25(1):49-62. PubMed ID: 36322151 [TBL] [Abstract][Full Text] [Related]
16. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Siu MT; Butcher DT; Turinsky AL; Cytrynbaum C; Stavropoulos DJ; Walker S; Caluseriu O; Carter M; Lou Y; Nicolson R; Georgiades S; Szatmari P; Anagnostou E; Scherer SW; Choufani S; Brudno M; Weksberg R Clin Epigenetics; 2019 Jul; 11(1):103. PubMed ID: 31311581 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review. Meira JGC; Magalhães BS; Ferreira IBB; Tavares DF; Kobayashi GS; Leão EKEA Am J Med Genet A; 2021 May; 185(5):1569-1574. PubMed ID: 33638286 [TBL] [Abstract][Full Text] [Related]
20. Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature. McConkey H; White-Brown A; Kerkhof J; Dyment D; Sadikovic B Front Cell Dev Biol; 2022; 10():1022683. PubMed ID: 36589751 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]