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Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
Epilepsia Open. 2024 Apr;9(2):758-764. doi: 10.1002/epi4.12887. Epub 2024 Jan 5.
Epilepsia Open. 2024.
PMID: 38129960
Free PMC article.
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; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC.
LaFlamme CW, et al. Among authors: nyaga dm.
medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741.
medRxiv. 2023.
PMID: 37873138
Free PMC article.
Preprint.
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Identifying the lungs as a susceptible site for allele-specific regulatory changes associated with type 1 diabetes risk.
Ho D, Nyaga DM, Schierding W, Saffery R, Perry JK, Taylor JA, Vickers MH, Kempa-Liehr AW, O'Sullivan JM.
Ho D, et al. Among authors: nyaga dm.
Commun Biol. 2021 Sep 14;4(1):1072. doi: 10.1038/s42003-021-02594-0.
Commun Biol. 2021.
PMID: 34521982
Free PMC article.
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Untangling the genetic link between type 1 and type 2 diabetes using functional genomics.
Nyaga DM, Vickers MH, Jefferies C, Fadason T, O'Sullivan JM.
Nyaga DM, et al.
Sci Rep. 2021 Jul 6;11(1):13871. doi: 10.1038/s41598-021-93346-x.
Sci Rep. 2021.
PMID: 34230558
Free PMC article.
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Type 1 Diabetes Mellitus-Associated Genetic Variants Contribute to Overlapping Immune Regulatory Networks.
Nyaga DM, Vickers MH, Jefferies C, Perry JK, O'Sullivan JM.
Nyaga DM, et al.
Front Genet. 2018 Nov 21;9:535. doi: 10.3389/fgene.2018.00535. eCollection 2018.
Front Genet. 2018.
PMID: 30524468
Free PMC article.
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The genetic architecture of type 1 diabetes mellitus.
Nyaga DM, Vickers MH, Jefferies C, Perry JK, O'Sullivan JM.
Nyaga DM, et al.
Mol Cell Endocrinol. 2018 Dec 5;477:70-80. doi: 10.1016/j.mce.2018.06.002. Epub 2018 Jun 18.
Mol Cell Endocrinol. 2018.
PMID: 29913182
Review.
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