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

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

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

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

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T1 - Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

AU - Imperatore, V.

AU - Pinto, A.M.

AU - Gelli, E.

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.

N1 - Export Date: 1 February 2019

PY - 2018

Y1 - 2018

U2 - 10.1038/s41431-017-0054-6

DO - 10.1038/s41431-017-0054-6

M3 - Article

VL - 26

SP - 1026

EP - 1037

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 7

ER -