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6. 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]
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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. Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. LaFlamme CW; Rastin C; Sengupta S; Pennington HE; Russ-Hall SJ; Schneider AL; Bonkowski ES; Almanza Fuerte EP; Galey M; Goffena J; Gibson SB; Allan TJ; Nyaga DM; Lieffering N; Hebbar M; Walker EV; Darnell D; Olsen SR; Kolekar P; Djekidel N; Rosikiewicz W; McConkey H; Kerkhof J; Levy MA; Relator R; Lev D; Lerman-Sagie T; Park KL; Alders M; Cappuccio G; Chatron N; Demain L; Genevieve D; Lesca G; Roscioli T; Sanlaville D; Tedder ML; Hubshman MW; Ketkar S; Dai H; Worley KC; Rosenfeld JA; Chao HT; ; Neale G; Carvill GL; ; Wang Z; Berkovic SF; Sadleir LG; Miller DE; Scheffer IE; Sadikovic B; Mefford HC medRxiv; 2023 Oct; ():. PubMed ID: 37873138 [TBL] [Abstract][Full Text] [Related]
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15. 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]
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17. 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]
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