Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

G. Negri; P. Magini; D. Milani; M. Crippa; E. Biamino; M. Piccione; S. Sotgiu; C. Perrìa; G. Vitiello; M. Frontali; A. Boni; E. Di Fede; M.C. Gandini; E.A. Colombo; M.J. Bamshad; D.A. Nickerson; J.D. Smith; I. Loddo; P. Finelli; M. Seri; T. Pippucci; L. Larizza; C. Gervasini

doi:10.1007/s00439-019-01985-y

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

G. Negri, P. Magini, D. Milani, M. Crippa, E. Biamino, M. Piccione, S. Sotgiu, C. Perrìa, G. Vitiello, M. Frontali, A. Boni, E. Di Fede, M.C. Gandini, E.A. Colombo, M.J. Bamshad, D.A. Nickerson, J.D. Smith, I. Loddo, P. Finelli, M. SeriT. Pippucci, L. Larizza, C. Gervasini

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

Original language	Italian
Pages (from-to)	257-269
Number of pages	13
Journal	Human Genetics
Volume	138
Issue number	3
DOIs	https://doi.org/10.1007/s00439-019-01985-y
Publication status	Published - 2019

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10.1007/s00439-019-01985-y

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Negri, G., Magini, P., Milani, D., Crippa, M., Biamino, E., Piccione, M., Sotgiu, S., Perrìa, C., Vitiello, G., Frontali, M., Boni, A., Di Fede, E., Gandini, M. C., Colombo, E. A., Bamshad, M. J., Nickerson, D. A., Smith, J. D., Loddo, I., Finelli, P., ... Gervasini, C. (2019). Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders. Human Genetics, 138(3), 257-269. https://doi.org/10.1007/s00439-019-01985-y

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders. / Negri, G.; Magini, P.; Milani, D.; Crippa, M.; Biamino, E.; Piccione, M.; Sotgiu, S.; Perrìa, C.; Vitiello, G.; Frontali, M.; Boni, A.; Di Fede, E.; Gandini, M.C.; Colombo, E.A.; Bamshad, M.J.; Nickerson, D.A.; Smith, J.D.; Loddo, I.; Finelli, P.; Seri, M.; Pippucci, T.; Larizza, L.; Gervasini, C.

In: Human Genetics, Vol. 138, No. 3, 2019, p. 257-269.

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

Negri, G, Magini, P, Milani, D, Crippa, M, Biamino, E, Piccione, M, Sotgiu, S, Perrìa, C, Vitiello, G, Frontali, M, Boni, A, Di Fede, E, Gandini, MC, Colombo, EA, Bamshad, MJ, Nickerson, DA, Smith, JD, Loddo, I , Finelli, P, Seri, M, Pippucci, T, Larizza, L & Gervasini, C 2019, 'Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders', Human Genetics, vol. 138, no. 3, pp. 257-269. https://doi.org/10.1007/s00439-019-01985-y

Negri, G. ; Magini, P. ; Milani, D. ; Crippa, M. ; Biamino, E. ; Piccione, M. ; Sotgiu, S. ; Perrìa, C. ; Vitiello, G. ; Frontali, M. ; Boni, A. ; Di Fede, E. ; Gandini, M.C. ; Colombo, E.A. ; Bamshad, M.J. ; Nickerson, D.A. ; Smith, J.D. ; Loddo, I. ; Finelli, P. ; Seri, M. ; Pippucci, T. ; Larizza, L. ; Gervasini, C. / Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders. In: Human Genetics. 2019 ; Vol. 138, No. 3. pp. 257-269.

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AU - Negri, G.

AU - Magini, P.

AU - Milani, D.

AU - Crippa, M.

AU - Biamino, E.

AU - Piccione, M.

AU - Sotgiu, S.

AU - Perrìa, C.

AU - Vitiello, G.

AU - Frontali, M.

AU - Boni, A.

AU - Di Fede, E.

AU - Gandini, M.C.

AU - Colombo, E.A.

AU - Bamshad, M.J.

AU - Nickerson, D.A.

AU - Smith, J.D.

AU - Loddo, I.

AU - Finelli, P.

AU - Seri, M.

AU - Pippucci, T.

AU - Larizza, L.

AU - Gervasini, C.

N1 - Cited By :2 Export Date: 5 February 2020

PY - 2019

Y1 - 2019

U2 - 10.1007/s00439-019-01985-y

DO - 10.1007/s00439-019-01985-y

M3 - Articolo

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SP - 257

EP - 269

JO - Human Genetics

JF - Human Genetics

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