Luisa Coutinho Santos
Overview
Explore the profile of Luisa Coutinho Santos including associated specialties, affiliations and a list of published articles.
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Articles
10
Citations
182
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0
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Recent Articles
1.
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
2.
Marques J, Soares C, Carvalho A, Estrela-Silva S, Coutinho Santos L, Ramos L, et al.
Clin Genet
. 2025 Jan;
PMID: 39745089
The Portuguese Society of Ophthalmology and the Portuguese Society of Human Genetics developed clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underlining the critical role of...
3.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger J, Audo I, et al.
Nat Commun
. 2024 Nov;
15(1):10096.
PMID: 39572588
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism....
4.
Malka S, Biswas P, Berry A, Sangermano R, Ullah M, Lin S, et al.
Am J Hum Genet
. 2024 Aug;
111(9):2012-2030.
PMID: 39191256
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the...
5.
Quinodoz M, Kaminska K, Cancellieri F, Han J, Peter V, Celik E, et al.
Am J Hum Genet
. 2024 Mar;
111(4):701-713.
PMID: 38531366
Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal human interindividual variation. However, they are still rather difficult...
6.
Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, et al.
Graefes Arch Clin Exp Ophthalmol
. 2024 Jan;
262(6):1883-1897.
PMID: 38189974
Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP...
7.
Peter V, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, et al.
PNAS Nexus
. 2023 Mar;
2(3):pgad043.
PMID: 36909829
Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than...
8.
Peter V, Quinodoz M, Sadio S, Held S, Rodrigues M, Soares M, et al.
Hum Mutat
. 2022 Nov;
43(12):2326-2327.
PMID: 36317447
No abstract available.
9.
Quinodoz M, Peter V, Bedoni N, Royer Bertrand B, Cisarova K, Salmaninejad A, et al.
Nat Commun
. 2021 Jan;
12(1):518.
PMID: 33483490
Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes...
10.
Peter V, Quinodoz M, Sadio S, Held S, Rodrigues M, Soares M, et al.
Hum Mutat
. 2020 Dec;
42(3):261-271.
PMID: 33300174
In murine and canine animal models, mutations in the Arylsulfatase G gene (ARSG) cause a particular lysosomal storage disorder characterized by neurological phenotypes. Recently, two variants in the same gene...