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7. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. Aref-Eshghi E; Rodenhiser DI; Schenkel LC; Lin H; Skinner C; Ainsworth P; Paré G; Hood RL; Bulman DE; Kernohan KD; ; Boycott KM; Campeau PM; Schwartz C; Sadikovic B Am J Hum Genet; 2018 Jan; 102(1):156-174. PubMed ID: 29304373 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype. Sadikovic B; Aref-Eshghi E; Levy MA; Rodenhiser D Epigenomics; 2019 Apr; 11(5):563-575. PubMed ID: 30875234 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
14. DNA methylation episignatures: insight into copy number variation. van der Laan L; Rooney K; Trooster TM; Mannens MM; Sadikovic B; Henneman P Epigenomics; 2022 Nov; 14(21):1373-1388. PubMed ID: 36537268 [TBL] [Abstract][Full Text] [Related]
15. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. Aref-Eshghi E; Bend EG; Colaiacovo S; Caudle M; Chakrabarti R; Napier M; Brick L; Brady L; Carere DA; Levy MA; Kerkhof J; Stuart A; Saleh M; Beaudet AL; Li C; Kozenko M; Karp N; Prasad C; Siu VM; Tarnopolsky MA; Ainsworth PJ; Lin H; Rodenhiser DI; Krantz ID; Deardorff MA; Schwartz CE; Sadikovic B Am J Hum Genet; 2019 Apr; 104(4):685-700. PubMed ID: 30929737 [TBL] [Abstract][Full Text] [Related]
16. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Sadikovic B; Levy MA; Kerkhof J; Aref-Eshghi E; Schenkel L; Stuart A; McConkey H; Henneman P; Venema A; Schwartz CE; Stevenson RE; Skinner SA; DuPont BR; Fletcher RS; Balci TB; Siu VM; Granadillo JL; Masters J; Kadour M; Friez MJ; van Haelst MM; Mannens MMAM; Louie RJ; Lee JA; Tedder ML; Alders M Genet Med; 2021 Jun; 23(6):1065-1074. PubMed ID: 33547396 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral. Awamleh Z; Goodman S; Kallurkar P; Wu W; Lu K; Choufani S; Turinsky AL; Weksberg R Curr Protoc; 2022 Nov; 2(11):e597. PubMed ID: 36367395 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]