Concepedia

Claudia Ciaccio

CC

14

Publications

387

Citations

12

H-Index

2016

Active since

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Città della Speranza Foundation

University of Padua

University of Milan

Claudia Ciaccio is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2016–2023

14

Publications

14

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Claudia Ciaccio, Veronica Saletti, Stefano D’Arrigo et al. · European Journal of Medical Genetics · 2018 · 58 citations

, , +6

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation

Claudia Ciaccio, Arianna Tucci, Giulietta Scuvera et al. · European Journal of Medical Genetics · 2016 · 49 citations

, , +9

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

Marina Colombi, Chiara Dordoni, Marina Venturini et al. · Clinical Genetics · 2017 · 33 citations

, , +14

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Emanuela Leonardi, Mariagrazia Bellini, Maria Cristina Aspromonte et al. · Genes · 2020 · 24 citations · Full text

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