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Page 1
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: bradbury k. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: bradbury k. Genet Med. 2020 Nov;22(11):1920. doi: 10.1038/s41436-020-00944-7. Genet Med. 2020. PMID: 32814847 Free article.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study; Blair E, Taylor JC, Stewart H. Pagnamenta AT, et al. Among authors: bradbury k. Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30859559 Free PMC article.
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE, Dolling H, Mégy K, Sanchis-Juan A, Kumar A, Delon I, Wakeling M, Mallin L, Agrawal S, Austin T, Walston F, Park SM, Parker A, Piyasena C, Bradbury K; Next Generation Children’s Project Consortium; Ellard S, Rowitch DH, Raymond FL. French CE, et al. Among authors: bradbury k. HGG Adv. 2022 Apr 25;3(3):100113. doi: 10.1016/j.xhgg.2022.100113. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35586607 Free PMC article.
Correction to: Consumption of soft drinks and juices and risk of liver and biliary tract cancers in a European cohort.
Stepien M, Duarte-Salles T, Fedirko V, Trichopoulou A, Lagiou P, Bamia C, Overvad K, Tjønneland A, Hansen L, Boutron-Ruault MC, Fagherazzi G, Severi G, Kühn T, Kaaks R, Aleksandrova K, Boeing H, Klinaki E, Palli D, Grioni S, Panico S, Tumino R, Naccarati A, Bueno-de-Mesquita HB, Peeters PH, Skeie G, Weiderpass E, Parr CL, Quirós JR, Buckland G, Molina-Montes E, Amiano P, Chirlaque MD, Ardanaz E, Sonestedt E, Ericson U, Wennberg M, Nilsson LM, Khaw KT, Wareham N, Bradbury KE, Ward HA, Romieu I, Jenab M. Stepien M, et al. Among authors: bradbury ke. Eur J Nutr. 2024 Apr 17. doi: 10.1007/s00394-024-03374-2. Online ahead of print. Eur J Nutr. 2024. PMID: 38630305 No abstract available.
Social prescribing for people living with dementia (PLWD) and their carers: what works, for whom, under what circumstances and why - protocol for a complex intervention systematic review.
Marshall J, Papavasiliou E, Fox C, Hawkes M, Irvine A, Moniz-Cook E, Pick A, Polley MJ, Reeve J, Robinson L, Rook G, Sadler E, Wolverson E, Walker S, Cross JL; SPLENDID Collaboration. Marshall J, et al. BMJ Open. 2024 Apr 8;14(4):e080551. doi: 10.1136/bmjopen-2023-080551. BMJ Open. 2024. PMID: 38589260 Free PMC article.
A randomised controlled trial of a digital intervention (Renewed) to support symptom management, wellbeing and quality of life in cancer survivors.
Little P, Bradbury K, Stuart B, Barnett J, Krusche A, Steele M, Heber E, Easton S, Smith KA, Slodkowska-Barabasz J, Payne L, Corbett T, Yao G, Pollet S, Smith J, Joseph J, Lawrence M, Bohning D, Cheetham-Blake T, Eccles D, Foster C, Geraghty AWA, Leydon G, Muller A, Neal R, Osborne R, Rathod S, Richardson A, Grimmett C, Sharman G, Bacon R, Turner L, Stephens R, Burford T, Wilde L, Middleton K, Liddiard M, Rogers K, Raftery J, Zhu S, Webley F, Griffiths G, Nutall J, Chalder T, Wilkinson CE, Watson E, Yardley L. Little P, et al. Among authors: bradbury k. Br J Gen Pract. 2023 Dec 20:BJGP.2023.0262. doi: 10.3399/BJGP.2023.0262. Online ahead of print. Br J Gen Pract. 2023. PMID: 38164562
261 results