Alessandro Bruselles

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 10

Top Topics

High Throughput Sequencing

Intellectual Disability

Diabetic Retinopathy

Top Venues

International journal of molecular sciences

American journal of medical genetics. Part A

Journal of medical genetics

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Emilia Stellacci, Marcello Niceta, Alessandro Bruselles, Emilio Straface, Massimo Tatti, Mattia Carvetta, Cecilia Mancini, Serena Cecchetti, Mariacristina Parravano, Lucilla Barbano, Monica Varano, Tartaglia Marco, Lucia Ziccardi, Viviana Cordeddu
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9 . International journal of molecular sciences 25 (15) (2024)
Stefania Martino, Pietro D'Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella Garganese, Michele Stasi, Tartaglia Marco, Graziano Pesole, Nicoletta Resta
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency. International journal of molecular sciences 25 (17) (2024)
Emilia Stellacci, Marcello Niceta, Alessandro Bruselles, Emilio Straface, Massimo Tatti, Mattia Carvetta, Cecilia Mancini, Serena Cecchetti, Mariacristina Parravano, Lucilla Barbano, Monica Varano, Tartaglia Marco, Lucia Ziccardi, Viviana Cordeddu
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9 . International journal of molecular sciences 25 (15) (2024)
Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Tartaglia Marco, Viviana Cordeddu
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium. International journal of molecular sciences 23 (23) (2022)
Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Tartaglia Marco, Viviana Cordeddu
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium. International journal of molecular sciences 23 (23) (2022)
Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Tartaglia Marco, Viviana Cordeddu
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium. International journal of molecular sciences 23 (23) (2022)
Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Tartaglia Marco, Viviana Cordeddu
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium. International journal of molecular sciences 23 (23) (2022)
Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Tartaglia Marco
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Nature communications 13 (1) (2022)
Lisa Pavinato, Slavica Trajkova, Enrico Grosso, Elisa Giorgio, Alessandro Bruselles, Francesca Clementina Radio, Tommaso Pippucci, Paola Dimartino, Tartaglia Marco, Aleksandar Petlichkovski, Silvia De Rubeis, Joseph D Buxbaum, Giovanbattista Giovanni Battista Ferrero, Roberto Keller, Alfredo Brusco
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American journal of medical genetics. Part A 185 (6) (2021)
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of medical genetics (2020)