Dr Sara Cuvertino

Research Associate

View graph of relations

Publications

  1. 2020
  2. E-pub ahead of print

    Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder

    Tinker, R. J., Burghel, G. J., Garg, S., Steggall, M., Cuvertino, S. & Banka, S., 8 Oct 2020, In : American Journal of Medical Genetics Part A .

    Research output: Contribution to journalArticlepeer-review

  3. Published

    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

    Cuvertino, S., Garner, T., Nair, N., Faundes Gomez, V., Sellers, R., Barton, A., Kimber, S., Banka, S. & et al., 2020, In : Genetics in Medicine.

    Research output: Contribution to journalArticlepeer-review

  4. 2019
  5. Published

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

    Mcdermott, J., Metcalfe, K., Banka, S., Cuvertino, S., Clayton, P., Yarwood, R., Lowe, M. & Lovell, S., 1 Nov 2019, In : Brain : a journal of neurology. 142, 11, p. 3382-3397 16 p.

    Research output: Contribution to journalArticlepeer-review

  6. 2017
  7. Published

    ACTB loss-of-function mutations result in a pleiotropic developmental disorder

    Cuvertino, S., Stuart, H., Chandler, K. E., Roberts, N., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Hernando Davalillo, C., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., Ruth, M., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., study, T. DDD., Woolf, A. S. & Banka, S., 7 Dec 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

    Research output: Contribution to journalArticlepeer-review

  8. 2016
  9. Published

    SOX7-enforced expression promotes the expansion of adult blood progenitors and blocks B cell development

    Cuvertino, S., Lacaud, G. & Kouskoff, V., 13 Jul 2016, In : Open Biology. 6, 60070.

    Research output: Contribution to journalArticlepeer-review

  10. Published

    Emerging concepts for the in vitro derivation of murine haematopoietic stem and progenitor cells

    Garcia-Alegria, E., Menegatti, S., Batta, K., Cuvertino, S., Florkowska, M. & Kouskoff, V., 2016, In : FEBS Letters.

    Research output: Contribution to journalArticlepeer-review

  11. Published

    SOX7 promotes the maintenance and proliferation of B cell precursor Acute Lymphoblastic cells

    Cuvertino, S., Filiciotto, G., Ashish Masurekar, Saha, V., Lacaud, G. & Kouskoff, V., 2016, In : Oncotarget.

    Research output: Contribution to journalArticlepeer-review

  12. 2012
  13. Published

    The MET oncogene transforms human primary bone-derived cells into osteosarcomas by targeting committed osteo-progenitors

    Dani, N., Olivero, M., Mareschi, K., Van Duist, M. M., Miretti, S., Cuvertino, S., Patanè, S., Calogero, R., Ferracini, R., Scotlandi, K., Fagioli, F. & Di Renzo, M. F., Jun 2012, In : Journal of Bone and Mineral Research. 27, 6, p. 1322-1334 12 p.

    Research output: Contribution to journalArticlepeer-review

Research Explorer downloads

78

Research output: Contribution to journalArticlepeer-review

1