Projects funded by the NCN
Solving the puzzle of deep intronic splicing variants as missing elements in the genetic landscape of Usher syndrome
2020/37/N/NZ5/02800
Keywords:
deep intronic varaints Usher syndrome next generation sequencing genome sequencing RNA splicing minigene
Descriptors:
- NZ5_003:
- NZ5_005:
Panel:
NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)
Host institution :
Instytut Fizjologii i Patologii Słuchu
woj. mazowieckie
Principal investigator (from the host institution):
Number of co-investigators in the project: 3
Call: PRELUDIUM 19 - announced on 2020-03-16
Amount awarded: 209 928 PLN
Project start date (Y-m-d): 2021-09-20
Project end date (Y-m-d): 2024-09-19
Project duration:: 36 months (the same as in the proposal)
Project status: Project completed
Project description
Download the project description in a pdf file
Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.
Information in the final report
- Articles in post-conference publications (3)
- Znaczny udział wariantów genu USH2A w powstawaniu niedosłuchu w stopniu lekkim do umiarkowanego.Authors:Natalia Bałdyga, Dominika Oziębło, Marcin Leja, Magdalena Pankowska, Henryk Skarżyński, Monika OłdakConference:XLVII Krajowa Konferencja Naukowo-Szkoleniowa "Problemy otorynolaryngologii dziecięcej w codziennej praktyce" – UCHO 2024, 15–17 września 2024, Warszawa/Kajetany (rok: 2024, tom: LVI Konferencja Naukowo-Szkoleniowa "Problemy otorynolaryngologii dziecięcej w codziennej praktyce" – UCHO 2024, strony: 94), Wydawca: Instytut Narządów Zmysłów, ul. Mokra 1, 05-830 KajetanyData:konferencja 15-17.09.2024Status:PublishedDOI:10.17431/na/192823 - link to the publication
- Success of Targeted Sequencing in the Search for Genetic Causes of Usher Syndrome Type 2Authors:Dominika Ozieblo, Janine Reurink, Natalia Baldyga, Henryk Skarzynski, Hannie Kremer, Monika OldakConference:Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters (rok: 2024, tom: 57th European Society of Human Genetics (ESHG) Conference, strony: 1341), Wydawca: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, EnglandData:konferencja 01-04.06.2024Status:PublishedDOI:10.1038/s41431-024-01734-4 - link to the publication
- Success of targeted sequencing in the search for genetic causes of Usher syndrome type 2Authors:Dominika Ozieblo, Natalia Baldyga, Janine Reurink, Henryk Skarzynski, Hannie Kremer, Monika OldakConference:59th Inner Ear Biology Workshop, 15–17 September 2024, Warsaw, Poland (rok: 2024, tom: 59th Inner Ear Biology Workshop, strony: 138), Wydawca: Institute of Sensory Organs, 1 Mokra Street, Kajetany, 05-830 Nadarzyn, PolandData:konferencja 15-17.09.2024Status:PublishedDOI:10.17430/jhs/192760 - link to the publication