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103 results

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Page 1
Oral Infigratinib Therapy in Children with Achondroplasia.
Savarirayan R, De Bergua JM, Arundel P, Salles JP, Saraff V, Delgado B, Leiva-Gea A, McDevitt H, Nicolino M, Rossi M, Salcedo M, Cormier-Daire V, Skae M, Kannu P, Phillips J 3rd, Saal H, Harmatz P, Candler T, Hill D, Muslimova E, Weng R, Bai Y, Raj S, Hoover-Fong J, Irving M, Rogoff D. Savarirayan R, et al. Among authors: kannu p. N Engl J Med. 2024 Nov 18. doi: 10.1056/NEJMoa2411790. Online ahead of print. N Engl J Med. 2024. PMID: 39555818
Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol.
Stratton C, Taylor A, Konstantinidis M, McNiven V, Kannu P, Gill P, Stedman I, Veroniki AA, Offringa M, Potter B, Wong-Rieger D, Adams J, Hodgkinson K, Elliott AM, Neville A, Faughnan M, Dyack S, Zhelnov P, Daly-Cyr J, McGowan J, Straus S, Smith M, Rosella L, Tricco AC. Stratton C, et al. Among authors: kannu p. JBI Evid Synth. 2024 Oct 21. doi: 10.11124/JBIES-24-00091. Online ahead of print. JBI Evid Synth. 2024. PMID: 39428992
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Hartley T, et al. Among authors: kannu p. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Silveira KC, Fonseca IC, Oborn C, Wengryn P, Ghafoor S, Beke A, Dreseris ES, Wong C, Iacovone A, Soltys CL, Babul-Hirji R, Artigalas O, Antolini-Tavares A, Gingras AC, Campos E, Cavalcanti DP, Kannu P. Silveira KC, et al. Among authors: kannu p. Hum Genet. 2023 Nov;142(11):1571-1586. doi: 10.1007/s00439-023-02598-2. Epub 2023 Sep 27. Hum Genet. 2023. PMID: 37755482 Free PMC article.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: kannu p. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
103 results