Agnieszka Pollak

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 14

Top Topics

Hypertrophic Cardiomyopathy

High Throughput Sequencing

Top Venues

American journal of medical genetics. Part A

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

BMC medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Malgorzata Rydzanicz, Wojciech Michał Glinkowski, Anna Walczak, Agnieszka Koppolu, Grażyna Kostrzewa, Piotr Gasperowicz, Agnieszka Pollak, Piotr Stawiński, Ploski Rafal
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis. American journal of medical genetics. Part A 188 (5) (2022)
Dorota Piekutowska-Abramczuk, Agata Paszkowska, Elżbieta Ciara, Kamila Frączak, Alicja Mirecka-Rola, Dorota Wicher, Agnieszka Pollak, Karolina Rutkowska, Jędrzej Sarnecki, Lidia Ziółkowska
Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience. Genes 13 (8) (2022)
Ewelina Wolańska, Agnieszka Pollak, Malgorzata Rydzanicz, Karolina Pesz, Klaniewska Magdalena, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Ploski Rafal, Robert Śmigiel
The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. Genes 12 (3) (2021)
Malgorzata Rydzanicz, Piotr Zwoliński, Piotr Gasperowicz, Agnieszka Pollak, Grażyna Kostrzewa, Anna Walczak, Magdalena Konarzewska, Ploski Rafal
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy. American journal of medical genetics. Part A 185 (11) (2021)
Krzysztof Szczaluba, Hanna Mierzewska, Smigiel Robert, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Piotr Stawiński, Agnieszka Pollak, Malgorzata Rydzanicz, Ploski Rafal
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. Journal of applied genetics 61 (2) (2020)
Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Dominika Oziębło, Henryk Skarzynski
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss. Journal of translational medicine 17 (1) (2019)
Urszula Lechowicz, Agnieszka Pollak, Danuta Raj-Koziak, Beata Dziendziel, Piotr Henryk Skarżyński, Henryk Skarżyński, Monika Ołdak
Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 275 (8) (2018)
Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss. BMC medical genetics 18 (1) (2017)
Agnieszka Jacoszek, Agnieszka Pollak, Rafał Płoski, Monika Ołdak
Advances in genetic hearing loss: CIB2 gene. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 274 (4) (2016)