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Page 1
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: kirmani s. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Sociodemographic and clinical predictors of quality-of-life outcome in children and young people with primary brain tumour in Karachi, Pakistan: a prospective cohort study.
Zahid N, Enam SA, Mårtensson T, Azam I, Mushtaq N, Moochhala M, Hassan A, Kausar F, Bakhshi S, Rehman L, Javeed F, Mughal MN, Altaf S, Kirmani S, Brown N. Zahid N, et al. Among authors: kirmani s. BMJ Paediatr Open. 2024 Dec 11;8(1):e002505. doi: 10.1136/bmjpo-2024-002505. BMJ Paediatr Open. 2024. PMID: 39662993 Free PMC article.
Demographic trends and disparities in mortality related to coexisting heart failure and diabetes mellitus among older adults in the United States between 1999 and 2020: A retrospective population-based cohort study from the CDC WONDER database.
Saeed H, Abdullah MBBS, Naeem I, Zafar A, Ahmad B, Islam TU, Rizvi SS, Kumari N, Kirmani SGA, Mansoor F, Hassan A, Raja A, Daoud M, Goyal A. Saeed H, et al. Among authors: kirmani sga. Int J Cardiol Cardiovasc Risk Prev. 2024 Aug 24;23:200326. doi: 10.1016/j.ijcrp.2024.200326. eCollection 2024 Dec. Int J Cardiol Cardiovasc Risk Prev. 2024. PMID: 39282605 Free PMC article.
Consensus guidelines for the management of pediatric medulloblastoma in low and middle-income countries.
Mushtaq N, Enam SA, Bajwa MH, Mustansir F, Baig E, Gauhar F, Arif A, Khan AA, Hamid SA, Javed G, Mubarak F, Qureshi BM, Minhas K, Kirmani S, Resham S, Bashir A, Yousaf I, Gilani A, Bouffet E, Mughal N; Pakistan Brain Tumour Consortium. Mushtaq N, et al. Among authors: kirmani s. J Pak Med Assoc. 2024 Mar;74(3 (Supple-3)):S116-S125. doi: 10.47391/JPMA.S3.GNO-14. J Pak Med Assoc. 2024. PMID: 39262072
Epigenome-wide DNA Methylation Association Study of CHIP Provides Insight into Perturbed Gene Regulation.
Levy D, Kirmani S, Huan T, Van Amburg J, Joehanes R, Uddin MM, Nguyen NQ, Yu B, Brody J, Fornage M, Bressler J, Sotoodehnia N, Ong D, Puddu F, Floyd J, Ballantyne C, Psaty B, Raffield L, Natarajan P, Conneely K, Carson A, Lange L, Ferrier K, Heard-Costa N, Murabito J, Bick A. Levy D, et al. Among authors: kirmani s. Res Sq [Preprint]. 2024 Jul 16:rs.3.rs-4656898. doi: 10.21203/rs.3.rs-4656898/v1. Res Sq. 2024. PMID: 39070619 Free PMC article. Preprint.
A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
NIHR Global Health Research Unit on Global Surgery; STARSurg Collaborative. NIHR Global Health Research Unit on Global Surgery, et al. Lancet Digit Health. 2024 Jul;6(7):e507-e519. doi: 10.1016/S2589-7500(24)00065-7. Lancet Digit Health. 2024. PMID: 38906616 Free article.
Factors associated with changes in the quality of life and family functioning scores of primary caregivers of children and young people with primary brain tumors in Karachi, Pakistan: a prospective cohort study.
Zahid N, Enam SA, Mårtensson T, Azam I, Mushtaq N, Moochhala M, Kausar F, Hassan A, Kamran Bakhshi S, Javed F, Rehman L, Mughal MN, Altaf S, Kirmani S, Brown N. Zahid N, et al. Among authors: kirmani s. BMC Pediatr. 2024 Jun 8;24(1):389. doi: 10.1186/s12887-024-04867-z. BMC Pediatr. 2024. PMID: 38851708 Free PMC article.
177 results