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Page 1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford… See abstract for full author list ➔ Hamdan FF, et al. Among authors: d anjou g, jones d. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
Ware TL, Huskins SR, Grinton BE, Liu YC, Bennett MF, Harvey M, McMahon J, Andreopoulos-Malikotsinas D, Bahlo M, Howell KB, Hildebrand MS, Damiano JA, Rosenfeld A, Mackay MT, Mandelstam S, Leventer RJ, Harvey AS, Freeman JL, Scheffer IE, Jones DL, Berkovic SF. Ware TL, et al. Among authors: jones dl. Epilepsia Open. 2019 Jul 22;4(3):504-510. doi: 10.1002/epi4.12350. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440733 Free PMC article.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen NJ, Gunanayagam K, Bournazos AM, Walvekar AS, Warmoes MO, Semcesen LN, Lunke S, Bommireddipalli S, Sikora T, Patraskaki M, Jones DL, Garza D, Sebire D, Gooley S, McLean CA, Naidoo P, Rajasekaran M, Stroud DA, Linster CL, Wallis M, Cooper ST, Christodoulou J. Van Bergen NJ, et al. Among authors: jones dl. Int J Mol Sci. 2023 Feb 10;24(4):3582. doi: 10.3390/ijms24043582. Int J Mol Sci. 2023. PMID: 36834994 Free PMC article.
Microbiota and metabolic adaptation shape Staphylococcus aureus virulence and antimicrobial resistance during intestinal colonization.
Zhou C, Pawline MB, Pironti A, Morales SM, Perault AI, Ulrich RJ, Podkowik M, Lejeune A, DuMont A, Stubbe FX, Korman A, Jones DR, Schluter J, Richardson AR, Fey PD, Drlica K, Cadwell K, Torres VJ, Shopsin B. Zhou C, et al. Among authors: jones dr. bioRxiv [Preprint]. 2024 May 11:2024.05.11.593044. doi: 10.1101/2024.05.11.593044. bioRxiv. 2024. PMID: 38766195 Free PMC article. Preprint.
Long term clinical outcomes and cost-effectiveness of catheter vs thoracoscopic surgical ablation in long-standing persistent atrial fibrillation using continuous cardiac monitoring: CASA-AF randomised controlled trial.
Boyalla V, Haldar S, Khan H, Kralj-Hans I, Banya W, Lord J, Satishkumar A, Bahrami T, De Souza A, Clague JR, Francis DP, Hussain W, Jarman JW, Jones DG, Chen Z, Mediratta N, Hyde J, Lewis M, Mohiaddin R, Salukhe TV, Markides V, McCready J, Gupta D, Wong T; CASA-AF Investigators. Boyalla V, et al. Among authors: jones dg. Heart Rhythm. 2024 May 13:S1547-5271(24)02564-5. doi: 10.1016/j.hrthm.2024.05.022. Online ahead of print. Heart Rhythm. 2024. PMID: 38763376 Free article.
Adding 6 months of androgen deprivation therapy to postoperative radiotherapy for prostate cancer: a comparison of short-course versus no androgen deprivation therapy in the RADICALS-HD randomised controlled trial.
Parker CC, Clarke NW, Cook AD, Kynaston H, Catton CN, Cross WR, Petersen PM, Persad RA, Saad F, Bower LC, Logue J, Payne H, Forcat S, Goldstein C, Murphy C, Anderson J, Barkati M, Bottomley DM, Branagan J, Choudhury A, Chung PWM, Cogley L, Goh CL, Hoskin P, Khoo V, Malone SC, Masters L, Morris SL, Nabid A, Ong AD, Raman R, Tarver KL, Tree AC, Worlding J, Wylie JP, Zarkar AM, Parulekar WR, Parmar MKB, Sydes MR; RADICALS investigators. Parker CC, et al. Lancet. 2024 May 16:S0140-6736(24)00548-8. doi: 10.1016/S0140-6736(24)00548-8. Online ahead of print. Lancet. 2024. PMID: 38763154 Free article.
Duration of androgen deprivation therapy with postoperative radiotherapy for prostate cancer: a comparison of long-course versus short-course androgen deprivation therapy in the RADICALS-HD randomised trial.
Parker CC, Kynaston H, Cook AD, Clarke NW, Catton CN, Cross WR, Petersen PM, Persad RA, Pugh CA, Saad F, Logue J, Payne H, Bower LC, Brawley C, Rauchenberger M, Barkati M, Bottomley DM, Brasso K, Chung HT, Chung PWM, Conroy R, Falconer A, Ford V, Goh CL, Heath CM, James ND, Kim-Sing C, Kodavatiganti R, Malone SC, Morris SL, Nabid A, Ong AD, Raman R, Rodda S, Wells P, Worlding J, Parulekar WR, Parmar MKB, Sydes MR; RADICALS investigators. Parker CC, et al. Lancet. 2024 May 16:S0140-6736(24)00549-X. doi: 10.1016/S0140-6736(24)00549-X. Online ahead of print. Lancet. 2024. PMID: 38763153 Free article.
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