Emilia Stellacci

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 10

Top Venues

International journal of molecular sciences

Human mutation

Clinical genetics

Istituto Superiore di Sanità

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

Affiliation History

Istituto Superiore di Sanità Sep 18 2001

Italy

Researcher :: Oncology and Molecular Medicine

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)
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)
Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F Tizzano, Luitgard Graul-Neumann, Sabina Barresi, Gen Nishimura, Maria Irene Valenzuela Palafoll, Fermina López-Grondona, Paula Fernandez-Alvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia
Skeletal abnormalities are common features in Aymé-Gripp syndrome. Clinical genetics 97 (2) (2019)
Emilia Stellacci, Gian M Moneta, Alessandro Bruselles, Sabina Barresi, Simone Pizzi, Giuliano Torre, Fabrizio De Benedetti, Marco Tartaglia, Antonella Insalaco
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies. Clinical genetics 96 (6) (2019)
Emilia Stellacci, Katharina Steindl, Pascal Joset, Laura Mercurio, Massimiliano Anselmi, Serena Cecchetti, Laura Gogoll, Markus Zweier, Annette Hackenberg, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Anita Rauch
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. Human mutation 39 (7) (2018)
Francesca Pantaleoni, Dorit Lev, Ion C Cirstea, Marialetizia Motta, Francesca Romana Lepri, Lisabianca Bottero, Serena Cecchetti, Ilan Linger, Stefano Paolacci, Elisabetta Flex, Antonio Novelli, Alessandra Carè, Mohammad R Ahmadian, Emilia Stellacci, Marco Tartaglia
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. Human mutation 38 (7) (2017)

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Publication Activity (10 Years)

Top Topics

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Emilia Stellacci