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Page 1
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: bunn j. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Canadian Surgery Forum 2018: St. John's, NL Sept. 13-15, 2018.
Jayaraman S, Lee L, Mata J, Droeser R, Kaneva P, Liberman S, Charlebois P, Stein B, Fried G, Feldman L, Schellenberg M, Inaba K, Cheng V, Bardes J, Lam L, Benjamin E, Matsushima K, Demetriades D, Schellenberg M, Inaba K, Cho J, Strumwasser A, Grabo D, Bir C, Eastman A, Demetriades D, Schellenberg M, Inaba K, Bardes J, Orozco N, Chen J, Park C, Kang T, Demetriades D, Jung J, Elfassy J, Grantcharov T, Jung J, Grantcharov T, Jung J, Grantcharov T, Taylor J, Stem M, Yu D, Chen S, Fang S, Gearhart S, Safar B, Efron J, Serrano P, Parpia S, McCarty D, Solis N, Valencia M, Jibrael S, Wei A, Gallinger S, Simunovic M, Hummadi A, Rabie M, Al Skaini M, Shamshad H, Shah S, Verhoeff K, Glen P, Taheri A, Min B, Tsang B, Fawcett V, Widder S, Yang M, Wanis K, Gilani O, Vogt K, Ott M, VanKoughnett J, Vinden C, Balvardi S, St Louis E, Yousef Y, Toobaie A, Guadagno E, Baird R, Poenaru D, Kleiman A, Mador B, Widder S, Serrano P, Moulton C, Lee E, Li C, Beyfuss K, Solomon H, Sela N, McAlister V, Ritter A, Gallinger S, Hallet J, Tsang M, Martel G, Jalink D, Husien M, Gu C, Levine M, Otiti S, Nginyangi J, Yeo C, Ring J, Holden M, Ungi T, Fichtinger G, Zevin B, Fang B, Dang J, Karmali S, Serrano P, Kim M,… See abstract for full author list ➔ Jayaraman S, et al. Among authors: bunn j. Can J Surg. 2018 Aug;61(4 Suppl 1):S94-S174. doi: 10.1503/cjs.010618. Epub 2018 Aug 1. Can J Surg. 2018. PMID: 35488393 Free PMC article. No abstract available.
Neurological Symptoms and Cause of Death Among Young Children in Low- and Middle-Income Countries.
Ajanovic S, Madewell ZJ, El Arifeen S, Gurley ES, Hossain MZ, Islam KM, Rahman A, Assefa N, Madrid L, Abdulahi M, Igunza KA, Murila F, Revathi G, Christopher M, Sow SO, Kotloff KL, Tapia MD, Traor CB, Mandomando I, Xerinda E, Varo R, Kincardett M, Ogbuanu IU, Nwajiobi-Princewill P, Swarray-Deen A, Luke R, Madhi SA, Mahtab S, Dangor Z, du Toit J, Akelo V, Mutevedzi P, Tippett Barr BA, Blau DM, Whitney CG, Bassat Q; Child Health and Mortality Prevention Surveillance (CHAMPS) Consortium. Ajanovic S, et al. JAMA Netw Open. 2024 Sep 3;7(9):e2431512. doi: 10.1001/jamanetworkopen.2024.31512. JAMA Netw Open. 2024. PMID: 39226053 Free PMC article.
Real-world experience with clinical management of talquetamab in relapsed/refractory multiple myeloma: a qualitative study of US healthcare providers.
Schinke C, Dhakal B, Mazzoni S, Shenoy S, Scott SA, Richards T, Le HH, DeBrosse A, Okorozo P, McDowell R, Patel S, Bunn J, Hawks K, Zhang X, Rodriguez C. Schinke C, et al. Among authors: bunn j. Curr Med Res Opin. 2024 Oct;40(10):1705-1711. doi: 10.1080/03007995.2024.2387183. Epub 2024 Aug 23. Curr Med Res Opin. 2024. PMID: 39177290
Clinicopathological discrepancies in the diagnoses of childhood causes of death in the CHAMPS network: An analysis of antemortem diagnostic inaccuracies.
Leulseged H, Bethencourt C, Igunza KA, Akelo V, Onyango D, Omore R, Ogbuanu IU, Ameh S, Moseray A, Kowuor D, Bassey IA, El Arifeen S, Gurley ES, Hossain MZ, Rahman A, Alam M, Assefa N, Madrid L, Alemu A, Abdullahi YY, Kotloff KL, Sow SO, Tapia MD, Kourouma N, Sissoko S, Bassat Q, Varo R, Mandomando I, Carrilho C, Rakislova N, Fernandes F, Madhi S, Dangor Z, Mahtab S, Hale M, Baillie V, du Toit J, Madewell ZJ, Blau DM, Martines RB, Mutevedzi PC, Breiman RF, Whitney CG, Rees CA; Child Health and Mortality Prevention Surveillance (CHAMPS) network. Leulseged H, et al. BMJ Paediatr Open. 2024 Jul 20;8(1):e002654. doi: 10.1136/bmjpo-2024-002654. BMJ Paediatr Open. 2024. PMID: 39032935 Free PMC article.
407 results