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Andrea Ciolfi

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 11

Top Venues

International journal of molecular sciences

European journal of human genetics : EJHG

Nature communications

medRxiv : the preprint server for health sciences

Ospedale Pediatrico Bambino Gesù

Universita degli Studi di Roma La Sapienza (PHD)

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

Affiliation History

Ospedale Pediatrico Bambino Gesù Oct 1o 2017

Italy

Staff Scientist :: Genetica e Malattie Rare

Education History

Universita degli Studi di Roma La Sapienza - Nov 18o 2014

Italy

PHD :: Department of Molecular Medicine

Publications

Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Tartaglia Marco, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geissler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature communications 14 (1) (2023)
Manuela Priolo, Erika Zara, Francesca Clementina Radio, Andrea Ciolfi, Francesca Spadaro, Emanuele Bellacchio, Cecilia Mancini, Francesca Pantaleoni, Viviana Cordeddu, Luigi Chiriatti, Marcello Niceta, Emilio Africa, Corrado Mammì, Daniela Melis, Simona Coppola, Tartaglia Marco
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants. European journal of human genetics : EJHG (2023)
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanbattista Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos A Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill Anne Rosenfeld, Laurence Olivier-Faivre, Frederic Tran Mau-Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan Shinawi, Chloe Mighton, Charlotte Fung, Chantal Morel, Jordan Lerner- Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Sander Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N Pichurin, Eric W Klee, Katheryn Grand, Pedro A Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E Eichler, Tartaglia Marco, Sébastien Küry, Tianyun Wang
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv : the preprint server for health sciences (2023)
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Tartaglia Marco, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geissler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature communications 14 (1) (2023)
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke Steensjerre Moller, Andrea Ciolfi, Tartaglia Marco, Zeynep Tümer
DNA methylation signature classification of rare disorders using publicly available methylation data. Clinical genetics (2023)
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)
Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Tartaglia Marco
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants. Genes 13 (11) (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)
Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Tartaglia Marco, Francesca Mari, null null, Alessandra Renieri, Anna Maria Pinto
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. European journal of human genetics : EJHG 28 (11) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Andrea Ciolfi