Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

V. Imperatore; A.M. Pinto; E. Gelli; E. Trevisson; V. Morbidoni; E. Frullanti; T. Hadjistilianou; S. De Francesco; P. Toti; E. Gusson; G. Roversi; A. Accogli; V. Capra; M.A. Mencarelli; A. Renieri; F. Ariani

doi:10.1038/s41431-017-0054-6

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

V. Imperatore, A.M. Pinto, E. Gelli, E. Trevisson, V. Morbidoni, E. Frullanti, T. Hadjistilianou, S. De Francesco, P. Toti, E. Gusson, G. Roversi, A. Accogli, V. Capra, M.A. Mencarelli, A. Renieri, F. Ariani

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	1026-1037
Number of pages	12
Journal	European Journal of Human Genetics
Volume	26
Issue number	7
DOIs	https://doi.org/10.1038/s41431-017-0054-6
Publication status	Published - 2018

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10.1038/s41431-017-0054-6

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Imperatore, V., Pinto, A. M., Gelli, E., Trevisson, E., Morbidoni, V., Frullanti, E., Hadjistilianou, T., De Francesco, S., Toti, P., Gusson, E., Roversi, G., Accogli, A., Capra, V., Mencarelli, M. A., Renieri, A., & Ariani, F. (2018). Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma. European Journal of Human Genetics, 26(7), 1026-1037. https://doi.org/10.1038/s41431-017-0054-6

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma. / Imperatore, V.; Pinto, A.M.; Gelli, E.; Trevisson, E.; Morbidoni, V.; Frullanti, E.; Hadjistilianou, T.; De Francesco, S.; Toti, P.; Gusson, E.; Roversi, G.; Accogli, A.; Capra, V.; Mencarelli, M.A.; Renieri, A.; Ariani, F.

In: European Journal of Human Genetics, Vol. 26, No. 7, 2018, p. 1026-1037.

Research output: Contribution to journal › Article › peer-review

Imperatore, V, Pinto, AM, Gelli, E, Trevisson, E, Morbidoni, V, Frullanti, E, Hadjistilianou, T, De Francesco, S, Toti, P, Gusson, E, Roversi, G, Accogli, A, Capra, V , Mencarelli, MA, Renieri, A & Ariani, F 2018, 'Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma', European Journal of Human Genetics, vol. 26, no. 7, pp. 1026-1037. https://doi.org/10.1038/s41431-017-0054-6

Imperatore, V. ; Pinto, A.M. ; Gelli, E. ; Trevisson, E. ; Morbidoni, V. ; Frullanti, E. ; Hadjistilianou, T. ; De Francesco, S. ; Toti, P. ; Gusson, E. ; Roversi, G. ; Accogli, A. ; Capra, V. ; Mencarelli, M.A. ; Renieri, A. ; Ariani, F. / Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma. In: European Journal of Human Genetics. 2018 ; Vol. 26, No. 7. pp. 1026-1037.

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AU - Trevisson, E.

AU - Morbidoni, V.

AU - Frullanti, E.

AU - Hadjistilianou, T.

AU - De Francesco, S.

AU - Toti, P.

AU - Gusson, E.

AU - Roversi, G.

AU - Accogli, A.

AU - Capra, V.

AU - Mencarelli, M.A.

AU - Renieri, A.

AU - Ariani, F.

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