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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18.
Genet Med. 2024.
PMID: 38251460
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: rastin c.
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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Complexity in Genetic Epilepsies: A Comprehensive Review.
Rastin C, Schenkel LC, Sadikovic B.
Rastin C, et al.
Int J Mol Sci. 2023 Sep 27;24(19):14606. doi: 10.3390/ijms241914606.
Int J Mol Sci. 2023.
PMID: 37834053
Free PMC article.
Review.
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Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants.
Kerkhof J, Rastin C, Schenkel L, Lin H, Sadikovic B.
Kerkhof J, et al. Among authors: rastin c.
Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):827-841. doi: 10.1080/14737159.2023.2245747. Epub 2023 Aug 12.
Expert Rev Mol Diagn. 2023.
PMID: 37542410
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