Sandra E Staffieri
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Explore the profile of Sandra E Staffieri including associated specialties, affiliations and a list of published articles.
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44
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613
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Recent Articles
1.
Raj T, Harrison J, Wakefield C, Daur B, Felmingham B, Casey M, et al.
J Glob Health
. 2025 Feb;
15:03008.
PMID: 39946562
Childhood cancer outcomes in low- and middle-income countries are impacted by the presentation of advanced disease and limited diagnostic and treatment resources. Papua New Guinea is highly populated with significant...
2.
Kearns L, Staffieri S, Mackey D
Clin Exp Ophthalmol
. 2025 Feb;
PMID: 39895156
With the increased availability of genetic testing and the addition of mitochondrial genetic variants on disease panels, accurate genetic counselling for individuals and families affected by, or at risk of,...
3.
Mackey D, Staffieri S, Lopez Sanchez M, Kearns L
Ophthalmic Genet
. 2025 Jan;
1-9.
PMID: 39833125
Aim: Leber hereditary optic neuropathy (LHON) predominantly manifests during adolescence or young adulthood, resulting in sudden and profound vision loss in individuals who previously had normal vision. This abrupt change...
4.
Kaliki S, Vempuluru V, Ahmad A, Berry J, Diaz-Coronado R, Eiger-Moscovich M, et al.
Clin Exp Ophthalmol
. 2024 Dec;
PMID: 39731391
Background: To evaluate the clinical presentation, pathological features and outcomes of retinoblastoma based on the race of origin in a global cohort of patients. Methods: Retrospective collaborative study of 1426...
5.
Negretti G, Ushakova T, Yuri S, Vladimir P, Berry J, Pike S, et al.
Retina
. 2024 Dec;
45(3):565-573.
PMID: 39622251
Purpose: To assess histopathology and outcomes after primary enucleation of eyes with retinoblastoma presenting with neovascular glaucoma (NVG). Methods: This was an international multicenter case series study across five continents....
6.
Arazi M, Baum A, Casavilca-Zambrano S, Alarcon-Leon S, Diaz-Coronado R, Ahmad A, et al.
Am J Ophthalmol
. 2024 Sep;
268:399-408.
PMID: 39332513
Purpose: To compare the clinical outcomes of children with unilateral retinoblastoma (Rb) and high-risk histopathology features (HRHF) following upfront enucleation with/without adjuvant chemotherapy, and investigate cases locally considered non-HRHF but...
7.
Kaliki S, Vempuluru V, Bakal K, Dorji S, Tanna V, Shields C, et al.
Retina
. 2024 Aug;
44(12):2105-2115.
PMID: 39151183
Purpose: To evaluate high-risk histopathological features following primary enucleation of eyes with retinoblastoma and assess the patient outcomes across continents. Methods: A retrospective study of 1,426 primarily enucleated retinoblastoma eyes...
8.
Mackey D, Staffieri S
Cell
. 2024 Jan;
187(2):273-275.
PMID: 38242084
Although the blinding eye disease glaucoma is more common in people of African ancestry, previous genetic studies predominantly involved European subjects. In this issue of Cell, O'Brien et al. report...
9.
Tenney A, Di Gioia S, Webb B, Chan W, de Boer E, Garnai S, et al.
Nat Genet
. 2023 Jun;
55(7):1149-1163.
PMID: 37386251
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial...
10.
Mackey D, Ong J, Macgregor S, Whiteman D, Craig J, Lopez Sanchez M, et al.
Am J Hum Genet
. 2022 Dec;
110(1):170-176.
PMID: 36565701
Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondrial risk variant never lose vision. Mitochondrial haplotype appears to be a...