Ronja Hotakainen

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan et al. · Genetics in Medicine · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the <scp><i>OTUD5</i></scp> gene

Kornélia Tripolszki, Erina Sasaki, Ronja Hotakainen et al. · Clinical Genetics · 2020 · 21 citations

Life Sciences, Genetics, Molecular Genetics +17

Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations

Niina Sandholm, Ronja Hotakainen, Jani K. Haukka et al. · Genome Medicine · 2022 · 11 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries

Ronja Hotakainen, Timo Järvinen, K Kettunen et al. · Genetics in Medicine · 2024 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene

Aida M. Bertoli‐Avella, Ronja Hotakainen, Maryam Al Shehhi et al. · Journal of Medical Genetics · 2021 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17