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Page 1
Global Retinoblastoma Presentation and Analysis by National Income Level.
Global Retinoblastoma Study Group; Fabian ID, Abdallah E, Abdullahi SU, Abdulqader RA, Adamou Boubacar S, Ademola-Popoola DS, Adio A, Afshar AR, Aggarwal P, Aghaji AE, Ahmad A, Akib MNR, Al Harby L, Al Ani MH, Alakbarova A, Portabella SA, Al-Badri SAF, Alcasabas APA, Al-Dahmash SA, Alejos A, Alemany-Rubio E, Alfa Bio AI, Alfonso Carreras Y, Al-Haddad C, Al-Hussaini HHY, Ali AM, Alia DB, Al-Jadiry MF, Al-Jumaily U, Alkatan HM, All-Eriksson C, Al-Mafrachi AARM, Almeida AA, Alsawidi KM, Al-Shaheen AASM, Al-Shammary EH, Amiruddin PO, Antonino R, Astbury NJ, Atalay HT, Atchaneeyasakul LO, Atsiaya R, Attaseth T, Aung TH, Ayala S, Baizakova B, Balaguer J, Balayeva R, Balwierz W, Barranco H, Bascaran C, Beck Popovic M, Benavides R, Benmiloud S, Bennani Guebessi N, Berete RC, Berry JL, Bhaduri A, Bhat S, Biddulph SJ, Biewald EM, Bobrova N, Boehme M, Boldt HC, Bonanomi MTBC, Bornfeld N, Bouda GC, Bouguila H, Boumedane A, Brennan RC, Brichard BG, Buaboonnam J, Calderón-Sotelo P, Calle Jara DA, Camuglia JE, Cano MR, Capra M, Cassoux N, Castela G, Castillo L, Català-Mora J, Chantada GL, Chaudhry S, Chaugule SS, Chauhan A, Chawla B, Chernodrinska VS, Chiwanga FS, Chuluunbat T, Cieslik K, Cockcr… See abstract for full author list ➔ Global Retinoblastoma Study Group, et al. Among authors: staffieri se. JAMA Oncol. 2020 May 1;6(5):685-695. doi: 10.1001/jamaoncol.2019.6716. JAMA Oncol. 2020. PMID: 32105305 Free PMC article.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: staffieri se. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Integrating Genetics in Glaucoma Screening.
Mackey DA, Bigirimana D, Staffieri SE. Mackey DA, et al. Among authors: staffieri se. J Glaucoma. 2024 Aug 1;33(Suppl 1):S49-S53. doi: 10.1097/IJG.0000000000002425. Epub 2024 Aug 19. J Glaucoma. 2024. PMID: 39149951 Free PMC article. Review.
Making glaucoma genetic studies more diverse.
Mackey DA, Staffieri SE. Mackey DA, et al. Among authors: staffieri se. Cell. 2024 Jan 18;187(2):273-275. doi: 10.1016/j.cell.2023.12.023. Cell. 2024. PMID: 38242084 Free article.
HIGH-RISK HISTOPATHOLOGICAL FEATURES OF RETINOBLASTOMA FOLLOWING PRIMARY ENUCLEATION: A Global Study Of 1,426 Patients From 5 Continents.
Kaliki S, Vempuluru VS, Bakal KR, Dorji S, Tanna V, Shields CN, Fallon SJ, Raval V, Ahmad A, Mushtaq A, Hussain M, Yousef YA, Mohammad M, Roy SR, Huque F, Tatiana U, Yuri S, Vladimir P, Zambrano SC, Alarcón-León S, Valdiviezo-Zapata C, Vargas-Martorellet M, Gutierrez-Chira C, Buitrago M, Ortiz JS, Diaz-Coronado R, Tripathy D, Rath S, Patil G, Berry JL, Pike S, Brown B, Tanabe M, Frenkel S, Eiger-Moscovich M, Pe'er J, Shields CL, Eagle RC Jr, Laiton A, Velasco AM, Vega K, DeSimone J, Bejjanki KM, Kapoor AG, Venkataraman A, Bryant V, Reddy MA, Sagoo MS, Hubbard GB 3rd, Azarcon CP, Olson TA, Grossniklaus H, Rolfe O, Staffieri SE, O'Day R, Mathew AA, Elder JE, McKenzie JD, Fabian ID, Shemesh R, Vishnevskia-Dai V, Ali MH, Jakati S, Mishra DK, Palkonda VAR; High-Risk Retinoblastoma Collaborative Study Group. Kaliki S, et al. Among authors: staffieri se. Retina. 2024 Dec 1;44(12):2105-2115. doi: 10.1097/IAE.0000000000004250. Epub 2024 Nov 12. Retina. 2024. PMID: 39151183 Free PMC article.
Treatment Outcomes and Definition Inconsistencies in High-Risk Unilateral Retinoblastoma.
Arazi M, Baum A, Casavilca-Zambrano S, Alarcon-Leon S, Diaz-Coronado R, Ahmad A, Mushtaq A, Hussain M, Ushakova T, Yuri S, Vladimir P, Shields CL, Eagle RC Jr, Berry JL, Pike S, Brown B, Roy SR, Huque F, Fabian I, Frenkel S, Eiger-Moscovich M, Pe'er J, Hubbard GB 3rd, Olson TA, Grossniklaus H, Reddy MA, Sagoo MS, Staffieri SE, Elder JE, McKenzie JD, Tanabe M, Kaliki S, Fabian ID. Arazi M, et al. Among authors: staffieri se. Am J Ophthalmol. 2024 Dec;268:399-408. doi: 10.1016/j.ajo.2024.09.023. Epub 2024 Sep 25. Am J Ophthalmol. 2024. PMID: 39332513
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2025 Apr;27(4):101216. doi: 10.1016/j.gim.2024.101216. Epub 2024 Jul 18. Genet Med. 2025. PMID: 39033378 Free PMC article.
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL, McComish BJ, Staffieri SE, Souzeau E, Kearns LS, Elder JE, Charlesworth JC, Mackey DA, Ruddle JB, Taranath D, Pater J, Casey T, Craig JE, Burdon KP. Jones JL, et al. Among authors: staffieri se. BMJ Open Ophthalmol. 2022 Aug;7(1):e001064. doi: 10.1136/bmjophth-2022-001064. BMJ Open Ophthalmol. 2022. PMID: 36161833 Free PMC article.
58 results