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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829.
medRxiv. 2023.
PMID: 38328047
Free PMC article.
Preprint.
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R, Bournazos AM, Bryen SJ, Bommireddipalli S, Marchant RG, Joshi H, Cooper ST.
Dawes R, et al. Among authors: marchant rg.
Nat Genet. 2023 Feb;55(2):324-332. doi: 10.1038/s41588-022-01293-8. Epub 2023 Feb 6.
Nat Genet. 2023.
PMID: 36747048
Free PMC article.
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST.
Marchant RG, et al.
Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27.
Ann Clin Transl Neurol. 2024.
PMID: 38544359
Free PMC article.
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Wilms' tumor: natural history and prognostic factors: a retrospective study of 248 cases treated at the Institut Gustave-Roussy 1952-1967.
Lemerle J, Tournade MF, Marchant RG, Flamant R, Sarrazin D, Flamant F, Lemerle M, Jundt S, Zucker JM, Schweisguth O.
Lemerle J, et al. Among authors: marchant rg.
Cancer. 1976 May;37(5):2557-66. doi: 10.1002/1097-0142(197605)37:5<2557::aid-cncr2820370549>3.0.co;2-l.
Cancer. 1976.
PMID: 177189
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