Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Identification of novel genetics variants as the cause of the premature closure of the cranial sutures in children using novel sequencing techniques and array comparative genomic hybridization

2016/23/N/NZ5/02577

Keywords:

craniosynostosis skull development clinical genetics next generation sequencing custom gene panels array CGH structural variants CNV TAD domains

Descriptors:

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

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, Wydział Lekarski

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Ewelina Bukowska-Olech 

Number of co-investigators in the project: 2

Call: PRELUDIUM 12 - announced on 2016-09-15

Amount awarded: 150 000 PLN

Project start date (Y-m-d): 2017-10-11

Project end date (Y-m-d): 2020-10-10

Project duration:: 36 months (the same as in the proposal)

Project status: Project settled

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.

Equipment purchased [PL]

  1. bd.

Information in the final report

  • Publication in academic press/journals (6)
  1. Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia
    Authors:
    Ewa Hordyjewska-Kowalczyk*, Anna Sowińska-Seidler*, Ewelina M. Olech, Magdalena Socha, Renata Glazar, Anna Kruczek, Anna Latos-Bieleńska, Przemko Tylzanowski, Aleksander Jamsheer
    Academic press:
    Clinical Genetetics (rok: 2019, tom: 5, strony: 429-439), Wydawca: Wiley Online Library
    Status:
    Published
    DOI:
    10.1111/cge.13610 - link to the publication
  2. Further phenotypic delineation of the auriculocondylar syndrometype 2 with literature review
    Authors:
    Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Filip Łojek, Delfina Popiel, Joanna Walczak-Sztulpa, Aleksander Jamsheer
    Academic press:
    Journal of Applied Genetics (rok: 2020, tom: nd, strony: nd), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-020-00591-3 - link to the publication
  3. Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
    Authors:
    Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
    Academic press:
    Scientific Reports (rok: 2020, tom: 5, strony: nd), Wydawca: Nature
    Status:
    Published
    DOI:
    10.1038/s41598-020-61048-5 - link to the publication
  4. Targeted next-generation sequencing in the dagnosis of facial dysostoses
    Authors:
    Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer
    Academic press:
    Frontiers in Genetics (rok: 2020, tom: 11, strony: nd), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fgene.2020.580477 - link to the publication
  5. Compound craniosynostosis as an additional feature of Noonan-like facial dysmorphism associated with haploinsufficiency of the BRAF gene
    Authors:
    Ewelina Bukowska-Olech, Monika Dmitrzak-Węglarz, Dawid Larysz, Bartosz Wojciechowicz, Dorota Simon, Joanna Walczak-Sztulpa, Aleksander Jamsheer
    Academic press:
    Birth Defects Research (rok: 2020, tom: 112, strony: 740-748), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/bdr2.1744 - link to the publication
  6. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome with early onset end-stage renal disease
    Authors:
    Joanna Walczak-Sztulpa, Renata Posmyk*, Ewelina M. Bukowska-Olech*, Anna Wawrocka, Aleksander Jamsheer1, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
    Academic press:
    Orphanet Journal or Rare Diseases (rok: 2020, tom: 15, strony: n.d.), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1186/s13023-020-1303-2 - link to the publication

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