Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

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Symptomatic de novo balanced chromosomal translocation breakpoints mapping for identification of novel loci associated with developmental disabilities

2016/21/B/NZ5/02541

Keywords:

de novo balanced chromosomal translocations breakpoints mapping whole genome sequencing developmental disabilities novel loci

Descriptors:

  • NZ2_1: Molecular genetics
  • NZ5_1: Etiology of human diseases
  • NZ2_5: Cell genetics

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, Wydział Lekarski

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Rafał Płoski 

Number of co-investigators in the project: 7

Call: OPUS 11 - announced on 2016-03-15

Amount awarded: 1 154 335 PLN

Project start date (Y-m-d): 2017-04-25

Project end date (Y-m-d): 2021-04-24

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Project description

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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

  • Publication in academic press/journals (3)
  1. Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
    Authors:
    Victor Murcia Pienkowski , Marzena Kucharczyk , Małgorzata Rydzanicz , Barbara Poszewiecka , Katarzyna Pachota , Marlena Młynek , Piotr Stawiński, Agnieszka Pollak , Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska , Dorota Wicher , Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska , Małgorzata Krajewska-Walasek , Rafał Płoski
    Academic press:
    Journal of clinical medicine (rok: 2020, tom: 9, strony: 1245), Wydawca: MDPI ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND
    Status:
    Published
    DOI:
    10.3390/jcm9051245 - link to the publication
  2. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders
    Authors:
    Victor Murcia Pienkowski , Marzena Kucharczyk , Marlena Młynek , Krzysztof Szczałuba Małgorzata Rydzanicz , Barbara Poszewiecka, Agata Skórka Maciej Sykulski, Anna Biernacka, Agnieszka Anna Koppolu, Renata Posmyk Anna Walczak, Joanna Kosińska, Paweł Krajewski Jennifer Castaneda, Ewa Obersztyn Elżbieta Jurkiewicz, Robert Śmigiel, Anna Gambin , Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski
    Academic press:
    Journal of Medical Genetics (rok: 2019, tom: 56, strony: 104–112), Wydawca: BMJ PUBLISHING GROUP
    Status:
    Published
    DOI:
    10.1136/jmedgenet-2018-105527 - link to the publication
  3. Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15
    Authors:
    Pesz K, Pienkowski VM, Pollak A, Gasperowicz P, Sykulski M, Kosińska J, Kiszko M, Krzykwa B, Bartnik-Głaska M, Nowakowska B, Rydzanicz M, Sasiadek MM, Płoski R.
    Academic press:
    European Journal of Medical Genetics (rok: 2018, tom: 61, strony: 596-601), Wydawca: lsevier Masson SAS
    Status:
    Published
    DOI:
    10.1016/j.ejmg.2018.03.013 - link to the publication

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