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Consultation informs strategies to improve functional evidence use in variant classification.
Villani RM, Terrill B, Tudini E, McKenzie ME, Cliffe CC, Hahn CN, Lundie B, Mattiske T, Matotek E, McEwen AE, Nickerson SL, Breen J, Fowler DM, Christodoulou J, Starita L, Rubin AF, Spurdle AB. Villani RM, et al. Among authors: fowler dm. medRxiv [Preprint]. 2024 Dec 6:2024.12.04.24318523. doi: 10.1101/2024.12.04.24318523. medRxiv. 2024. PMID: 39677445 Free PMC article. Preprint.
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M, Zimmerman D, Jiang R, Nguyen M, Weile J, Li R, Gavac M, Kishore N, Sun S, Boonen RA, Hamilton R, Dines JN, Wahl A, Reuter J, Johnson B, Fowler DM, Couch FJ, van Attikum H, Roth FP. Gebbia M, et al. Among authors: fowler dm. Am J Hum Genet. 2024 Dec 5;111(12):2675-2692. doi: 10.1016/j.ajhg.2024.10.013. Am J Hum Genet. 2024. PMID: 39642869 Free PMC article.
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: fowler dm. Genome Med. 2024 Dec 3;16(1):143. doi: 10.1186/s13073-024-01392-7. Genome Med. 2024. PMID: 39627863 Free PMC article.
Understanding genetic variants in context.
Sinnott-Armstrong N, Fields S, Roth F, Starita LM, Trapnell C, Villen J, Fowler DM, Queitsch C. Sinnott-Armstrong N, et al. Among authors: fowler dm. Elife. 2024 Dec 3;13:e88231. doi: 10.7554/eLife.88231. Elife. 2024. PMID: 39625477 Free PMC article.
The Early Youth Engagement (EYE-2) intervention in first-episode psychosis services: pragmatic cluster randomised controlled trial and cost-effectiveness evaluation.
Greenwood K, Jones C, Yaziji N, Healey A, May C, Bremner S, Hooper R, Rathod S, Phiri P, de Visser R, Mackay T, Bartl G, Abramowicz I, Gu J, Webb R, Nandha S, Lennox B, Johns L, French P, Hodgekins J, Law H, Plaistow J, Thompson R, Fowler D, Garety P, O'Donnell A, Painter M, Jarvis R, Clark S, Peters E. Greenwood K, et al. Among authors: fowler d. Br J Psychiatry. 2024 Nov 25:1-9. doi: 10.1192/bjp.2024.154. Online ahead of print. Br J Psychiatry. 2024. PMID: 39581220
Transcatheter Valve Replacement in Severe Tricuspid Regurgitation.
Hahn RT, Makkar R, Thourani VH, Makar M, Sharma RP, Haeffele C, Davidson CJ, Narang A, O'Neill B, Lee J, Yadav P, Zahr F, Chadderdon S, Eleid M, Pislaru S, Smith R, Szerlip M, Whisenant B, Sekaran NK, Garcia S, Stewart-Dehner T, Thiele H, Kipperman R, Koulogiannis K, Lim DS, Fowler D, Kapadia S, Harb SC, Grayburn PA, Sannino A, Mack MJ, Leon MB, Lurz P, Kodali SK; TRISCEND II Trial Investigators. Hahn RT, et al. Among authors: fowler d. N Engl J Med. 2024 Oct 30. doi: 10.1056/NEJMoa2401918. Online ahead of print. N Engl J Med. 2024. PMID: 39475399
1,123 results