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ARVO Annual Meeting Abstract June 2022

Next-Generation Sequencing Panel Results for Inherited Retinal Dystrophy in a Large Pediatric Cohort

Iker Sánchez Navarro; Kimberly Gall; Julie Hathaway; Alicia Scocchia; Kati Kämpjärvi; Johanna Känsäkoski; Pernilla von Nandelstadh; Marta Gandia; Sanna Vattulainen-Collanus; Ka-Yan Mak; Mari-Liis Mikk; Laura Sarantaus; Hanna Västinsalo; Inka Saarinen; Sari Tuupanen; Juha Koskenvuo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1.

ARVO Annual Meeting Abstract June 2022

Diagnostic Contribution of Genes with Treatments or Interventional Clinical Trials in a Large Retinal Dystrophy Cohort

Ka-Yan Mak; Kimberly Gall; Alicia Scocchia; Julie Hathaway; Kati Kämpjärvi; Kirsty Wells; Johanna Känsäkoski; Pernilla von Nandelstadh; Raquel Perez; Marta Gandia; Sanna Vattulainen-Collanus; Mari-Liis Mikk; Mikko Muona; Inka Saarinen; Sari Tuupanen; Juha Koskenvuo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2833 – A0349.

Articles January 2022

Prevalence of RPGR -Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

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Sari Tuupanen; Kimberly Gall; Johanna Sistonen; Inka Saarinen; Kati Kämpjärvi; Kirsty Wells; Katja Merkkiniemi; Pernilla von Nandelstadh; Laura Sarantaus; Johanna Känsäkoski; Emma Mårtenson; Hanna Västinsalo; Jennifer Schleit; Eeva-Marja Sankila; Annakarin Kere; Heidi Junnila; Pauli Siivonen; Margarita Andreevskaya; Ville Kytölä; Mikko Muona; Pertteli Salmenperä; Samuel Myllykangas; Juha Koskenvuo; Tero-Pekka Alastalo
TAGS: cohort studies, prevalence, retinal dystrophies
Trans. Vis. Sci. Tech.. 2022; 11(1):6. https://doi.org/10.1167/tvst.11.1.6

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Analyzing the mitochondrial genome of over 2500 patients with retinal disease

Pernilla von Nandelstadh; Sari Tuupanen; Marta Gandia; Sanna Vattulainen-Collanus; Kati Kampjarvi; Johanna Kansakoski; Katja Merkkiniemi; Laura Sarantaus; Raquel Perez-Carro; Jonna Tallila; Ville Kytola; Mikko Muona; Johanna Sistonen; Inka Saarinen; Juha Koskenvuo; Tero-Pekka Alastalo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1531.

ARVO Annual Meeting Abstract June 2020

Next generation sequencing-based genetic testing reveals key diagnostic contribution by copy number variants in inherited retinal diseases

Kirsty Wells; Kati Kämpjärvi; Lucia Guidugli; Johanna Känsäkoski; Pernilla von Nandelstadh; Hanna Västinsalo; Laura Sarantaus; Katja Merkkiniemi; Emma Mårtensson; Jennifer Schleit; Miko Valori; Inka Saarinen; Johanna Sistonen; Juha Koskenvuo; Sari Tuupanen; Tero-Pekka Alastalo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):838.

ARVO Annual Meeting Abstract July 2019

Characterization of copy number variants (CNVs) identified by genetic testing of inherited retinal disorders

Lucia Guidugli; Miika Mehine; Sari Tuupanen; Kati Kämpjärvi; Kirsty Wells; Johanna Känsäkoski; Miko Valori; Inka Saarinen; Mikko Muona; Eeva-Marja Kaarina Sankila; Samuel Myllykangas; Juha Koskenvuo; Tero-Pekka Alastalo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2944.

ARVO Annual Meeting Abstract July 2019

RPGR ORF15 sequencing improves diagnostic yield in patients with inherited retinal dystrophies.

Sari Tuupanen; Johanna Sistonen; Kati Kämpjärvi; Pauli Siivonen; Miika Mehine; Johanna Känsäkoski; Kirsty Wells; Jennifer Schleit; Miko Valori; Pertteli Salmenperä; Eeva-Marja Sankila; Eveliina Salminen; Tero-Pekka Alastalo; Juha Koskenvuo; Samuel Myllykangas

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2939.

ARVO Annual Meeting Abstract July 2019

Prevalence and genetic characteristics of RPE65 -associated retinal disease

Tero-Pekka Alastalo; Kati Kämpjärvi; Lucia Guidugli; Johanna Känsäkoski; Kirsty Wells; Hanna Västinsalo; Laura Sarantaus; Pertteli Salmenperä; Samuel Myllykangas; Eeva-Marja Kaarina Sankila; Juha Koskenvuo; Sari Tuupanen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):400.

ARVO Annual Meeting Abstract July 2019

A whole exome sequencing-based panel assay with boosted clinical content generates a high diagnostic yield in patients with inherited eye diseases

Kati Kämpjärvi; Kirsty Wells; Miika Mehine; Johanna Känsäkoski; Laura Sarantaus; Hanna Västinsalo; Jennifer Schleit; Inka Saarinen; Mikko Muona; Samuel Myllykangas; Tero-Pekka Alastalo; Juha Koskenvuo; Jussi Paananen; Sari Tuupanen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):421.

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