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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ, Archibald A, Bombard Y, Christodoulou J, Clausen M, De Fazio P, Greaves RF, Hollizeck S, Kanga-Parabia A, Lang N, Lynch F, Peters R, Sadedin S, Tutty E, Eggers S, Lee C, Wall M, Yeung A, Gaff C, Gyngell C, Vears DF, Best S, Goranitis I, Stark Z. Lunke S, et al. Among authors: goranitis i. BMJ Open. 2024 Apr 3;14(4):e081426. doi: 10.1136/bmjopen-2023-081426. BMJ Open. 2024. PMID: 38569677 Free article.
"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.
Robertson EG, Roberts NJ, Le Marne F, Beavis E, Macintosh R, Kelada L, Best S, Goranitis I, Pierce K, Gill D, Sachdev R, Bye A, Palmer EE. Robertson EG, et al. Among authors: goranitis i. Eur J Paediatr Neurol. 2023 Nov;47:94-104. doi: 10.1016/j.ejpn.2023.09.010. Epub 2023 Oct 7. Eur J Paediatr Neurol. 2023. PMID: 37832466 Free article.
Paving the path for implementation of clinical genomic sequencing globally: Are we ready?
Marshall DA, Hua N, Buchanan J, Christensen KD, Frederix GWJ, Goranitis I, Ijzerman M, Jansen JP, Lavelle TA, Regier DA, Smith HS, Ungar WJ, Weymann D, Wordsworth S, Phillips KA. Marshall DA, et al. Among authors: goranitis i. Health Aff Sch. 2024 Apr 29;2(5):qxae053. doi: 10.1093/haschl/qxae053. eCollection 2024 May. Health Aff Sch. 2024. PMID: 38783891 Free PMC article.
72 results