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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. Dardas Z, et al. Among authors: jolly a. Genome Med. 2024 Apr 3;16(1):53. doi: 10.1186/s13073-024-01312-9. Genome Med. 2024. PMID: 38570875 Free PMC article.
Remote Evaluation of Sleep and Circadian Rhythms in Older Adults With Mild Cognitive Impairment and Dementia: Protocol for a Feasibility and Acceptability Mixed Methods Study.
Gabb VG, Blackman J, Morrison HD, Biswas B, Li H, Turner N, Russell GM, Greenwood R, Jolly A, Trender W, Hampshire A, Whone A, Coulthard E. Gabb VG, et al. Among authors: jolly a. JMIR Res Protoc. 2024 Mar 22;13:e52652. doi: 10.2196/52652. JMIR Res Protoc. 2024. PMID: 38517469 Free PMC article.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: jolly a. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Assessing the impact of risk-based data monitoring on outcomes for a paediatric multicentre randomised controlled trial.
Le Marsney R, Johnson K, Chumbes Flores J, Coetzer S, Darvas J, Delzoppo C, Jolly A, Masterson K, Sherring C, Thomson H, Ergetu E, Gilholm P, Gibbons KS. Le Marsney R, et al. Among authors: jolly a. Clin Trials. 2024 Feb 29:17407745231222019. doi: 10.1177/17407745231222019. Online ahead of print. Clin Trials. 2024. PMID: 38420923 Free article.
288 results