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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL, O'Leary M, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson M, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: smedley d. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. PMID: 37577678 Free PMC article. Preprint.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: smedley d. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: smedley d. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. Among authors: smedley d. Genet Med. 2024 Apr 13:101141. doi: 10.1016/j.gim.2024.101141. Online ahead of print. Genet Med. 2024. PMID: 38629401 Free article.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium; Finnell RH, Ross ME, Copp AJ, Greene NDE. Crane-Smith Z, et al. Among authors: smedley d. Hum Mol Genet. 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. Hum Mol Genet. 2023. PMID: 37364051 Free PMC article.
Essential genes: a cross-species perspective.
Cacheiro P, Smedley D. Cacheiro P, et al. Among authors: smedley d. Mamm Genome. 2023 Sep;34(3):357-363. doi: 10.1007/s00335-023-09984-1. Epub 2023 Mar 10. Mamm Genome. 2023. PMID: 36897351 Free PMC article. Review.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
195 results