Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Searching genetic causes of new severe/lethal multidefect congenital syndromes in human fetuses.

2017/27/B/NZ5/02223

Keywords:

dysmorphic features mnogie congenital defect lethal syndrome fetus next generation sequencing - NGS whole exom sequencing - WES

Descriptors:

  • NZ5_1: Etiology of human diseases
  • NZ5_3: Pathogenesis 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. Piastów Śląskich we Wrocławiu, Wydział Nauk o Zdrowiu

woj. dolnośląskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Robert Śmigiel 

Number of co-investigators in the project: 6

Call: OPUS 14 - announced on 2017-09-15

Amount awarded: 1 361 500 PLN

Project start date (Y-m-d): 2018-08-22

Project end date (Y-m-d): 2023-02-21

Project duration:: 54 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.

Information in the final report

  • Publication in academic press/journals (7)
  1. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
    Authors:
    Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner17, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete21, Evelyne Ruchti22, Greta Limoni22, Marine Van Campenhoudt22, Samuel Bourgeat22, Petra Henklein23, Christian Gilissen24,25, Bregje W. van Bon24, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna- Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jaksic, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D'Angelo, and Vincenzo A. Gennarino
    Academic press:
    J Clin Invest (rok: 2023, tom: Mar 28;e165019, strony: e165019), Wydawca: American Society for Clinical Investigation
    Status:
    Published
    DOI:
    10.1172/JCI165019. - link to the publication
  2. Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
    Authors:
    Agnieszka Stembalska, Lech Dudarewicz, Robert Śmigiel
    Academic press:
    Advances in Clinical and Experimental Medicine (rok: 2021, tom: 30(6), strony: 641–647), Wydawca: Wroclaw Medical University
    Status:
    Published
    DOI:
    10.17219/acem/134166 - link to the publication
  3. Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
    Authors:
    Stembalska Agnieszka, Rydzanicz Małgorzata, Dudarewicz Lech, Pollak Agnieszka, Klaniewska Magdalena, Biela Mateusz, Stawinski Piotr, Ploski Rafal, Smigiel Robert
    Academic press:
    Genes (rok: 2022, tom: 13(8), strony: 1339), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes13081339 - link to the publication
  4. Rapid Whole‐Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
    Authors:
    Robert Śmigiel 1,†, Mateusz Biela 1,†,*, Krzysztof Szmyd 2, Michal Błoch 1, Elżbieta Szmida 3, Paweł Skiba 3, Anna Walczak 4, Piotr Gasperowicz 4, Joanna Kosińska 4, Małgorzata Rydzanicz 4, Piotr Stawiński 4, Anna Biernacka 4,5, Marzena Zielińska 6, Waldemar Gołębiowski 6, Agnieszka Jalowska 7, Grażyna Ohia 8, Bożena Głowska 9, Wojciech Walas 10, Barbara Królak‐Olejnik 7, Paweł Krajewski 11, Jolanta Sykut‐Cegielska 12, Maria M. Sąsiadek 3 and Rafał Płoski 4
    Academic press:
    Journal of Clinical Medicine (rok: 2020, tom: Jul 13;9(7):, strony: 2220), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/jcm9072220 - link to the publication
  5. High diagnostic impact of prenatal whole-exome sequencing in the etiology of multiple defects in fetuses.
    Authors:
    Stembalska Agnieszka1*, Rydzanicz Małgorzata2*, Pollak Agnieszka2, Klaniewska Magdalena3,, Stawinski Piotr2, Ploski Rafal2, Smigiel Robert4
    Academic press:
    Genes (rok: 2023, ), Wydawca: MDPI
    Status:
    Submitted
    DOI:
    brak - link to the publication
  6. Severe infantile axonal neuropathy with respiratory failure caused by novel mutation in X-linked LAS1L gene.
    Authors:
    Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Kłaniewska, Zuzanna Gamrot, Ewa Grońska, Rafał Płoski, Robert Śmigiel
    Academic press:
    Genes (rok: 2022, tom: 13(5), strony: 725), Wydawca: MPDI
    Status:
    Published
    DOI:
    10.3390/genes13050725 - link to the publication
  7. Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
    Authors:
    Agnieszka Stembalska , Małgorzata Rydzanicz , Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela , Rafal Ploski, Robert Smigiel
    Academic press:
    Genes (rok: 2021, tom: 12, strony: 1078), Wydawca: MPDI
    Status:
    Published
    DOI:
    10.3390/ - link to the publication

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