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Information on the principal investigator and host institution

Information of the project and the call

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Identification of genes controlling neuronal migration in development of the human nervous system

2012/06/M/NZ2/00101

Keywords:

defects of neuronal migration development of the central nervous system

Descriptors:

  • NZ1_1: Molecular biology
  • NZ2_1: Molecular genetics
  • NZ3_9: Organogenesis

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Instytut Matki i Dziecka

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Wojciech Wiszniewski 

Number of co-investigators in the project: 9

Call: HARMONIA 3 - announced on 2012-06-15

Amount awarded: 633 490 PLN

Project start date (Y-m-d): 2013-03-22

Project end date (Y-m-d): 2016-03-21

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

Project status: Project settled

Information in the final report

  • Publication in academic press/journals (4)
  1. PEHO syndrome may represent phenotypic expansion at the severe end of the early onset encephalopathies
    Authors:
    Pawel Gawlinski, Renata Posmyk, Tomasz Gambin, Danuta Sielicka, Monika Chorazy, Beata Nowakowska, Shalini N. Jhangiani, Donna M. Muzny, Monika Bekiesinska-Figatowska, Jerzy Bal, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Wojciech Wiszniewski
    Academic press:
    Pediatric Neurology (rok: 2016, tom: 60, strony: 83-87), Wydawca: ELSEVIER
    Status:
    Published
    DOI:
    10.1016/j.pediatrneurol.2016.03.011 - link to the publication
  2. Secondary findings and carrier test frequencies in a large multiethnic sample
    Authors:
    Tomasz Gambin, Shalini N. Jhangiani, Jennifer E. Below, Ian M. Campbell, Wojciech Wiszniewski, Donna M. Muzny, Jeffrey Staples, Alanna C. Morrison, Matthew N. Bainbridge, Samantha Penney, Amy L. McGuire, Richard A. Gibbs, James R. Lupski and Eric Boerwinkle
    Academic press:
    Genome Medicine (rok: 2015, tom: 7(1):54, strony: -), Wydawca: BioMed Central The Open Access Publisher
    Status:
    Published
    DOI:
    10.1186/s13073-015-0171-1 - link to the publication
  3. Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly
    Authors:
    Claudia Gonzaga-Jauregui, PhD; Timothy Lotze, MD; Leila Jamal, ScM; Samantha Penney, MSc; Ian M. Campbell, BS; Davut Pehlivan, MD; Jill V. Hunter, MBBS; Suzanne L.Woodbury, MD; Gerald Raymond, MD; Adekunle M. Adesina, MD, PhD; Shalini N. Jhangiani, MSc; Jeffrey G. Reid, PhD; Donna M. Muzny, MSc; Eric Boerwinkle, PhD; James R. Lupski, MD, PhD, DSc; Richard A. Gibbs, PhD;Wojciech Wiszniewski, MD, PhD
    Academic press:
    JAMA Neurology (rok: 2013, tom: 70(12), strony: 1491-8), Wydawca: American Medical Association
    Status:
    Published
    DOI:
    10.1001/jamaneurol.2013.4598 - link to the publication
  4. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
    Authors:
    Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ.
    Academic press:
    Cell (rok: 2014, tom: 159, strony: 200-214), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.cell.2014.09.002 - link to the publication

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