Maria Kaukonen

University of Helsinki — Finland

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index1.4kcitations65works2.82yr avg
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Research Topics

Retinal Development and Disorders(18), Diamond and Carbon-based Materials Research(12), Metal and Thin Film Mechanics(8), High-pressure geophysics and materials(7), CRISPR and Genetic Engineering(6)

Publications65 total

IMPG2-associated retinal dystrophy with a novel missense variant and therapeutic options via adenine base editing
Ophthalmic Genetics·2026Open Access
Atherosclerosis and familial hypercholesterolemia in Korat cats
Journal of Comparative Pathology·2025
A feline model of human low‐density lipoprotein receptor‐related atherosclerosis
Animal Genetics·2025Open Access
Common variants in the CPT1A gene are associated with cataracts in Northern breeds of domestic dog
PLoS ONE·2025Open Access
A feline model of human LDLR-related atherosclerosis
2024· 1 citedOpen Access
The DoGA consortium expression atlas of promoters and genes in 100 canine tissues
Nature Communications·2024· 9 citedOpen Access
Genetic therapies and potential therapeutic applications of CRISPR activators in the eye
Progress in Retinal and Eye Research·2024· 7 cited
In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone–Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A
Genes·2024· 8 citedOpen Access
Differential diagnosis for hepatic disease as the cause of serum ALAT increase; myopathy of the Schapendoes breed dog
Journal of Comparative Pathology·2024
Hypomorphic <i>CDHR1</i> variants may result in retinitis pigmentosa with relative preservation of cone function
Ophthalmic Genetics·2023· 4 cited
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Genome Medicine·2023· 12 citedOpen Access
A frameshift deletion in<i>F8</i>associated with hemophilia A in Labrador Retriever dogs
Animal Genetics·2023· 1 citedOpen Access
<scp>TCF4</scp> trinucleotide repeat expansion in Finnish patients with Fuchs' endothelial corneal dystrophy
Acta Ophthalmologica·2022
Genetic findings in over 600 individuals with inherited retinal disorders in Finland
Acta Ophthalmologica·2022
Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient
Genes·2022· 5 citedOpen Access
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin
Genes·2022· 16 citedOpen Access
In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention
Genes·2021· 8 citedOpen Access
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog
Genes·2021· 7 citedOpen Access
Dog colour patterns explained by modular promoters of ancient canid origin
Nature Ecology & Evolution·2021· 56 citedOpen Access
Clinical and Genetic Findings in 28 American Cocker Spaniels with Aural Ceruminous Gland Hyperplasia and Ectasia
Journal of Comparative Pathology·2021· 6 citedOpen Access
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Frequent Co-authors

Hannes Lohi(22), R. M. Nieminen(11), Marjo K. Hytönen(11), Thomas Frauenheim(8), Meharji Arumilli(7), Oliver P. Forman(6), G. Jungnickel(6), Robert E. MacLaren(6), Jonas Donner(5), Kaisa Kyöstilä(5), Juha Kere(5), Carsten O. Daub(5), Ileana B. Quintero(5), Tosso Leeb(5), Saija Ahonen(5), Heidi Anderson(4), Danika L. Bannasch(4), César L. Araujo(4), Sruthi Hundi(4), Antti Sukura(4)