Concepedia

Silvia Spena

SS

Statistics

Publications

16

Citations

714

H-Index

16

Active since

2001

Affiliations

University of Milan(Current)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Istituti di Ricovero e Cura a Carattere Scientifico

University of Milano-Bicocca

University of Parma

Silvia Spena is an author at University of Milan specializing in genetics, life sciences, and genetic disorders.

ORCID

Publications per year

2001–2018

16

Publications

16

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene

Gloria Negri, Donatella Milani, P. Colapietro et al. · Clinical Genetics · 2014 · 88 citations

, , +17

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 88 citations

, , +7

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

Rosanna Asselta, Stefano Duga, Silvia Spena et al. · Blood · 2001 · 78 citations · Full text

, , +9

Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

Silvia Spena, Stefano Duga, Rosanna Asselta et al. · European Journal of Human Genetics · 2004 · 69 citations · Full text

, , +11

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

José P. López‐Atalaya, Cristina Gervasini, Federica Mottadelli et al. · Journal of Medical Genetics · 2011 · 67 citations · Full text

, , +17

1–5 of 16