Publications by authors named "Michael P Backlund"

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Long-read sequencing uncovers novel pathogenic duplications in the gene in patients with macular dystrophy.
Michael P Backlund, Suzie A Gasparian, Pauliina E Repo, Harri Kangas, Kati Donner

Ophthalmic Genet· October 2025

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Errors and Delays in Diagnosing Keratitis Fugax Hereditaria.
Annamari T Immonen, Sabita Kawan, Michael P Backlund, Heikki Saaren-Seppälä, Tero T Kivelä

Am J Ophthalmol· June 2025

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Characterisation of a LINE-1 Insertion in the Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
Michael P Backlund, Pauliina Repo, Harri Kangas, Kati Donner, Eeva-Marja Sankila

Hum Mutat· April 2025

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A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Mira A Järvinen, Rigmor C Baraas, Anna Majander, Michael P Backlund, Julia Krootila

Acta Ophthalmol· March 2025

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Functional assay for assessment of pathogenicity of BAP1 variants.
Pauliina E Repo, Michael P Backlund, Tero T Kivelä, Joni A Turunen

Hum Mol Genet· February 2024

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Functional consequences of pathogenic variant c.61G>C in the inflammasome gene underlying keratitis fugax hereditaria.
Sabita Kawan, Michael Paul Backlund, Annamari Tuulia Immonen, Tero Tapani Kivelä, Joni Antero Turunen

Br J Ophthalmol· January 2024

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