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Page 1
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.
Stoupa A, Kariyawasam D, Jabot-Hanin F, Quoc AN, Hanein S, Rabeony T, Elie C, Colas S, Thalassinos C, Oliver-Petit I, Houang M, Coutant R, Barat P, Nicolino M, Reynaud R, de Kerdanet M, Signor CB, Baron S, Raynaud-Ravni C, Souchon PF, Léger J, Castanet M, Bole-Feysot C, Nitschke P, Lyonnet S, Polak M, Carré A. Stoupa A, et al. Among authors: kariyawasam d. J Clin Endocrinol Metab. 2025 Jan 9:dgaf004. doi: 10.1210/clinem/dgaf004. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39787321
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.
Balaji L, Forbes R, Cairns A, Sampaio H, Kornberg AJ, Sanders L, Lamont P, Liang C, Jones KJ, Nowak K, O'Gorman C, Woodcock I, Briggs N, Yiu EM, Farrar MA, Kariyawasam D. Balaji L, et al. Among authors: kariyawasam d. Lancet Reg Health West Pac. 2024 Nov 6;53:101237. doi: 10.1016/j.lanwpc.2024.101237. eCollection 2024 Dec. Lancet Reg Health West Pac. 2024. PMID: 39559164 Free PMC article.
Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: a mixed methods cross-sectional study.
Meagher CE, Kariyawasam DS, Concepcion KAE, Dale R, Hetherington K, Mohammad S, Palmer EE, Woolfenden S, Farrar MA. Meagher CE, et al. Among authors: kariyawasam ds. Arch Dis Child. 2024 Nov 19:archdischild-2024-327914. doi: 10.1136/archdischild-2024-327914. Online ahead of print. Arch Dis Child. 2024. PMID: 39521449
Time to Sustained Recovery Among Outpatients With COVID-19 Receiving Montelukast vs Placebo: The ACTIV-6 Randomized Clinical Trial.
Rothman RL, Stewart TG, Mourad A, Boulware DR, McCarthy MW, Thicklin F, Garcia Del Sol IT, Garcia JL, Bramante CT, Shah NS, Singh U, Williamson JC, Rebolledo PA, Jagannathan P, Schwasinger-Schmidt T, Ginde AA, Castro M, Jayaweera D, Sulkowski M, Gentile N, McTigue K, Felker GM, DeLong A, Wilder R, Collins S, Dunsmore SE, Adam SJ, Hanna GJ, Shenkman E, Hernandez AF, Naggie S, Lindsell CJ; Accelerating COVID-19 Therapeutic Interventions and Vaccines–6 Study Group and Investigators. Rothman RL, et al. JAMA Netw Open. 2024 Oct 1;7(10):e2439332. doi: 10.1001/jamanetworkopen.2024.39332. JAMA Netw Open. 2024. PMID: 39422912 Free PMC article. Clinical Trial.
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Stoupa A, Franca MM, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, Polak G, Beltrand J, Polak M, Kariyawasam D, Liao XH, Raimondi C, Steigerwald C, Abreu NJ, Bauer AJ, Carré A, Taneja C, Mekhoubad AB, Dumitrescu AM. Stoupa A, et al. Among authors: kariyawasam d. Genet Med. 2024 Dec;26(12):101280. doi: 10.1016/j.gim.2024.101280. Epub 2024 Sep 21. Genet Med. 2024. PMID: 39315526 Free article.
Diagnosis and management of children and adult craniopharyngiomas: A French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement.
Cuny T, Reynaud R, Raverot G, Coutant R, Chanson P, Kariyawasam D, Poitou C, Thomas-Teinturier C, Baussart B, Samara-Boustani D, Feuvret L, Villanueva C, Villa C, Bouillet B, Tauber M, Espiard S, Castets S, Beckers A, Amsellem J, Vantyghem MC, Delemer B, Chevalier N, Brue T, André N, Kerlan V, Graillon T, Raingeard I, Alapetite C, Raverot V, Salenave S, Boulin A, Appay R, Dalmas F, Fodil S, Coppin L, Buffet C, Thuillier P, Castinetti F, Vogin G, Cazabat L, Kuhn E, Haissaguerre M, Reznik Y, Goichot B, Bachelot A, Kamenicky P, Decoudier B, Planchon C, Micoulaud-Franchi JA, Romanet P, Jacobi D, Faucher P, Carette C, Bihan H, Drui D, Rossignol S, Gonin L, Sokol E, Wiard L, Courtillot C, Nicolino M, Grunenwald S, Chabre O, Christin-Maître S, Desailloud R, Maiter D, Guignat L, Brac de la Perrière A, Salva P, Scavarda D, Bonneville F, Caron P, Vasiljevic A, Leclercq D, Cortet C, Gaillard S, Albarel F, Clément K, Jouanneau E, Dufour H, Barat P, Gatta-Cherifi B. Cuny T, et al. Among authors: kariyawasam d. Ann Endocrinol (Paris). 2024 Jul 11;86(1):101631. doi: 10.1016/j.ando.2024.07.002. Online ahead of print. Ann Endocrinol (Paris). 2024. PMID: 39002896 Free article. No abstract available.
'High hopes for treatment': Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases.
Nguyen CQ, Kariyawasam DST, Ngai TSJ, Nguyen J, Alba-Concepcion K, Grattan SE, Palmer EE, Hetherington K, Wakefield CE, Dale RC, Woolfenden S, Mohammad S, Farrar MA. Nguyen CQ, et al. Among authors: kariyawasam dst. Health Expect. 2024 Jun;27(3):e14063. doi: 10.1111/hex.14063. Health Expect. 2024. PMID: 38711219 Free PMC article.
Long-term weight gain in children with craniopharyngioma.
Rovani S, Butler V, Samara-Boustani D, Pinto G, Gonzalez-Briceno L, Nguyen Quoc A, Vermillac G, Stoupa A, Besançon A, Beltrand J, Thalassinos C, Flechtner I, Dassa Y, Viaud M, Arrom-Branas MB, Boddaert N, Puget S, Blauwblomme T, Alapetite C, Bolle S, Doz F, Grill J, Dufour C, Bourdeaut F, Abbou S, Guerrini-Rousseau L, Leruste A, Beccaria K, Polak M, Kariyawasam D. Rovani S, et al. Among authors: kariyawasam d. Eur J Endocrinol. 2024 May 2;190(5):363-373. doi: 10.1093/ejendo/lvae044. Eur J Endocrinol. 2024. PMID: 38662730
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