Hanna Koskiniemi-Kuendig
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Explore the profile of Hanna Koskiniemi-Kuendig including associated specialties, affiliations and a list of published articles.
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4
Citations
109
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Recent Articles
1.
Arsenijevic Y, Chang N, Mercey O, El Fersioui Y, Koskiniemi-Kuendig H, Joubert C, et al.
EMBO Mol Med
. 2024 Mar;
16(4):805-822.
PMID: 38504136
For 15 years, gene therapy has been viewed as a beacon of hope for inherited retinal diseases. Many preclinical investigations have centered around vectors with maximal gene expression capabilities, yet...
2.
Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, et al.
Nat Commun
. 2019 Jun;
10(1):2884.
PMID: 31253780
Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu...
3.
Venturini G, Koskiniemi-Kuendig H, Harper S, Berson E, Rivolta C
Genet Med
. 2014 Sep;
17(4):285-90.
PMID: 25255364
Purpose: Retinitis pigmentosa is a Mendelian disease with a very elevated genetic heterogeneity. Most mutations are responsible for less than 1% of cases, making molecular diagnosis a multigene screening procedure....
4.
Nishiguchi K, Tearle R, Liu Y, Oh E, Miyake N, Benaglio P, et al.
Proc Natl Acad Sci U S A
. 2013 Sep;
110(40):16139-44.
PMID: 24043777
We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes,...