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Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents.
Gray B, Behr ER, Papatheodorou E, Bakalakos A, Raju H, Wijeyeratne YD, Finocchiaro G, Malhotra A, Whiffin N, Ware JS, Esteban MT, Sheppard MN, Sharma S, Papadakis M. Gray B, et al. Among authors: whiffin n. Eur J Prev Cardiol. 2024 Dec 23:zwae389. doi: 10.1093/eurjpc/zwae389. Online ahead of print. Eur J Prev Cardiol. 2024. PMID: 39714775
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J, Oquendo CJ, Wai HA, Holloway JG, Martin-Geary A, Blakes AJM, Arciero E, Domcke S, Childs AM, Low K, Rankin J; Genomics England Research Consortium; Baralle D, Martin HC, Whiffin N. Lord J, et al. Among authors: whiffin n. Genet Med. 2024 Dec;26(12):101249. doi: 10.1016/j.gim.2024.101249. Epub 2024 Sep 3. Genet Med. 2024. PMID: 39243181 Free article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. Among authors: whiffin n. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rube… See abstract for full author list ➔ Chen Y, et al. Among authors: whiffin n. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
93 results