Publications by authors named "Kati Donner"

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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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Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank.
Shanlee M Davis, Aoxing Liu, Craig C Teerlink, Dana M Lapato, Bryan Gorman, Kati M Donner

Am J Hum Genet· September 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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Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank.
Shanlee M Davis, Aoxing Liu, Craig C Teerlink, Dana M Lapato, Bryan Gorman, Kati M Donner

medRxiv· February 2025

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Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.
Dmitrii Usoltsev, Nikita Kolosov, Oxana Rotar, Alexander Loboda, Maria Boyarinova, Kati Donner

Nat Commun· July 2024

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High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases.
Omar Youssef, Anu Loukola, Yossra H S Zidi-Mouaffak, Max Tamlander, Sanni Ruotsalainen, Kati Donner

Lab Invest· April 2024

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Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.
Mitja I Kurki, Juha Karjalainen, Priit Palta, Timo P Sipilä, Kati Kristiansson, Kati M Donner

Nature· March 2023

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FinnGen provides genetic insights from a well-phenotyped isolated population.
Mitja I Kurki, Juha Karjalainen, Priit Palta, Timo P Sipilä, Kati Kristiansson, Kati M Donner

Nature· January 2023

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Pharmacoepigenetics of hypertension: genome-wide methylation analysis of responsiveness to four classes of antihypertensive drugs using a double-blind crossover study design.
Marja-Liisa Nuotio, Heini Sánez Tähtisalo, Alexandra Lahtinen, Kati Donner, Frej Fyhrquist

Epigenetics· November 2022

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Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the Gene.
Peter Hackman, Salla M Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Kati Donner

Neurol Genet· December 2021

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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Kati Donner

Acta Neuropathol· August 2021

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Genomics of asthma, allergy and chronic rhinosinusitis: novel concepts and relevance in airway mucosa.
Anu Laulajainen-Hongisto, Annina Lyly, Tanzeela Hanif, Kishor Dhaygude, Matti Kankainen, Kati Donner

Clin Transl Allergy· October 2020

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Heme oxygenase-1 repeat polymorphism in septic acute kidney injury.
Laura M Vilander, Suvi T Vaara, Kati M Donner, Päivi Lakkisto, Mari A Kaunisto

PLoS One· January 2020

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Replicated evidence for aminoacylase 3 and nephrin gene variations to predict antihypertensive drug responses.
Jenni M Rimpelä, Kimmo K Kontula, Frej Fyhrquist, Kati M Donner, Annukka M Tuiskula

Pharmacogenomics· April 2017

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PRKCDBP (CAVIN3) and CRY2 associate with major depressive disorder.
Leena Kovanen, Kati Donner, Mari Kaunisto, Timo Partonen

J Affect Disord· January 2017

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CRY1 and CRY2 genetic variants in seasonality: A longitudinal and cross-sectional study.
Leena Kovanen, Kati Donner, Mari Kaunisto, Timo Partonen

Psychiatry Res· August 2016

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SIRT1 Polymorphisms Associate with Seasonal Weight Variation, Depressive Disorders, and Diastolic Blood Pressure in the General Population.
Leena Kovanen, Kati Donner, Timo Partonen

PLoS One· June 2016

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Genetic Loci Associated with Allergic Sensitization in Lithuanians.
Ingrida Šaulienė, Jūratė Greičiuvienė, Laura Šukienė, Neringa Juškevičiūtė, Christian Benner, Kati Donner

PLoS One· May 2016

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PTPRD gene associated with blood pressure response to atenolol and resistant hypertension.
Yan Gong, Caitrin W McDonough, Amber L Beitelshees, Nihal El Rouby, Timo P Hiltunen, Kati M Donner

J Hypertens· November 2015

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TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives.
Martina Chittani, Roberta Zaninello, Chiara Lanzani, Francesca Frau, Maria F Ortu, Kati M Donner

J Hypertens· June 2015

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CRY1, CRY2 and PRKCDBP genetic variants in metabolic syndrome.
Leena Kovanen, Kati Donner, Mari Kaunisto, Timo Partonen

Hypertens Res· March 2015

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Pharmacogenomics of hypertension: a genome‐wide, placebo‐controlled cross‐over study, using four classes of antihypertensive drugs.
Timo P Hiltunen, Kati M Donner, Antti-Pekka Sarin, Janna Saarela, Samuli Ripatti

J Am Heart Assoc· January 2015

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Mutation update: the spectra of nebulin variants and associated myopathies.
Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, Jocelyn Laporte, Pauliina Repo, Kati Donner

Hum Mutat· December 2014

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CRY2 genetic variants associate with dysthymia.
Leena Kovanen, Mari Kaunisto, Kati Donner, Sirkku T Saarikoski, Timo Partonen

PLoS One· April 2014

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Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide.
Stephen T Turner, Eric Boerwinkle, Jeffrey R O'Connell, Kent R Bailey, Yan Gong, Kati M Donner

Hypertension· August 2013

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