Jakub Piotr Fichna
6PUBLICATIONS
12CO-AUTHORS
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Publications (6)
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|Dec 30, 2025
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.Jakub P Fichna, Ewelina Elert-Dobkowska, Wiktoria Radziwonik-Fraczyk
|Jun 19, 2024
Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome.Jakub P Fichna, Mateusz Chiliński, Anup Kumar Halder
|Jul 02, 2021
Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population.Jakub P Fichna, Kinga Humińska-Lisowska, Krzysztof Safranow
|Mar 03, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.Anna Potulska-Chromik, Maria Jędrzejowska, Monika Gos
|Sep 12, 2018
Myofibrillar myopathy in the genomic context.Jakub Piotr Fichna, Aleksandra Maruszak, Cezary Żekanowski
|Jul 05, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.Jakub Piotr Fichna, Anna Macias, Marcin Piechota
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Frequent Collaborators
3 joint publications
Cezary Zekanowski
1 joint publications
Edyta Rosiak
1 joint publications
Biruta Kierdaszuk
1 joint publications
Kinga Humińska-Lisowska
1 joint publications
Krzysztof Safranow
1 joint publications
Jakub G Adamczyk
1 joint publications
Mariusz Berdyński
1 joint publications
Mateusz Chiliński
1 joint publications
Anup Kumar Halder
1 joint publications
Paweł Cięszczyk
