Projects funded by the NCN
The influence of genetic and epigenetic variability on phenotypic discordance - monozygotic twins study
2014/13/B/NZ5/00287
Keywords:
monozygotic twins phenotypic discordance genetic changes epigenetic changes next-generation sequencing
Descriptors:
- NZ5_1: Etiology of human diseases
- NZ2_2: Genomics, transcriptomics, epigenomics
Panel:
NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)
Host institution :
Warszawski Uniwersytet Medyczny, I Wydział Lekarski
woj. mazowieckie
Principal investigator (from the host institution):
Number of co-investigators in the project: 5
Call: OPUS 7 - announced on 2014-03-17
Amount awarded: 1 261 470 PLN
Project start date (Y-m-d): 2015-02-18
Project end date (Y-m-d): 2019-02-17
Project duration:: 48 months (the same as in the proposal)
Project status: Project settled
Equipment purchased [PL]
- BluePippin.
- Aktualizacja oprogramowania platformy genomowej HiSeq 1500 (73 100 PLN)
Information in the final report
- Publication in academic press/journals (3)
- Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implicationsAuthors:Małgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, Hanna Davies, Natalia Filipowicz, Bozena Bruhn-Olszewska, Marco Cavalli, Krzysztof Szczałuba, Marlena Młynek, Marcin M. Machnicki, Piotr Stawiński, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Śladowski, Krystyna Chrzanowska, Jan P. Dumanski, Rafał PłoskiAcademic press:Molecular Genetics & Genomic Medicine (rok: 2021, tom: 1, strony: 45300), Wydawca: WileyStatus:PublishedDOI:10.1002/mgg3.1526 - link to the publication
- Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathyAuthors:Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski RAcademic press:Clinical Genetics (rok: 2019, tom: Mar.28, strony: 45294), Wydawca: WileyStatus:PublishedDOI:10.1111/cge.13534 - link to the publication
- Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosisAuthors:Małgorzata Rydzanicz, Wojciech Glinkowski, Anna Walczak, Agnieszka Koppolu, Grażyna Kostrzewa, Piotr Gasperowicz, Agnieszka Pollak, Piotr Stawiński, Rafał PłoskiAcademic press:American Journal of Medical Genetics part A (rok: 2022, tom: 188()5), strony: 1482-1487), Wydawca: WILEYStatus:PublishedDOI:10.1002/ajmg.a.62670 - link to the publication