Francesca Clementina Radio (Francesca C Radio, Radio Francesca Clementina)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 32

Top Venues

Genes

American journal of medical genetics. Part A

Clinical genetics

European journal of human genetics : EJHG

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

Publications

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)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Mario Cesare Nurchis, Gian Marco Raspolini, Aurora Heidar Alizadeh, Gerardo Altamura, Francesca Clementina Radio, Tartaglia Marco, Bruno Dallapiccola, Gianfranco Damiani
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey. Journal of personalized medicine 13 (6) (2023)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Mario Cesare Nurchis, Gian Marco Raspolini, Aurora Heidar Alizadeh, Gerardo Altamura, Francesca Clementina Radio, Tartaglia Marco, Bruno Dallapiccola, Gianfranco Damiani
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey. Journal of personalized medicine 13 (6) (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, Frédéric 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)
Maria Bejerholm Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P Bhatia, Tatjana Bierhals, Christian Malte Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco-Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B Haack, Trine B Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J Müller, Anna J Oostra, Beth A Pletcher, David Ros-Pardo, Shanika R Samarasekera, Tartaglia Marco, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha Saad Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gómez-Puertas, Rikke Steensjerre Moller, Zeynep Tümer
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical genetics 102 (2) (2022)
Manuela Priolo, Valentina Palermo, Francesca Aiello, Andrea Ciolfi, Luca Pannone, Valentina Muto, Marialetizia Motta, Cecilia Mancini, Francesca Clementina Radio, Marcello Niceta, Chiara Leoni, Letizia Pintomalli, Rosalba Carrozzo, Giuseppe Rajola, Corrado Mammì, Giuseppe Zampino, Simone Martinelli, Bruno Dallapiccola, Pietro Pichierri, Tartaglia Marco
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. Clinical genetics 102 (1) (2022)
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Mathilde Nizon, Jonathan Lévy, Cecilia Mancini, Benjamin Cogné, Francesca Clementina Radio, Emanuele Agolini, Dario Cocciadiferro, Antonio Novelli, Mustafa A Salih, Maria Paola Recalcati, Rosangela Arancio, Marianne Besnard, Anne-Claude Tabet, Michael C Kruer, Manuela Priolo, Bruno Dallapiccola, Tartaglia Marco
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. Clinical genetics (2022)
Manuela Priolo, Cecilia Mancini, Simone Pizzi, Luigi Chiriatti, Francesca Clementina Radio, Viviana Cordeddu, Letizia Pintomalli, Corrado Mammì, Bruno Dallapiccola, Tartaglia Marco
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants. Genes 13 (5) (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)
Ferdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, Isabel Filges, Teresa N Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C Carmody, Sophie Collardeau-Frachon, Esther A Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna El Ghosh, Jessica L Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G Iliescu, Markus S Ladewig, Monica C Munoz-Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A Vasilevsky, Ronald J Wapner, Roni Zemet, Melissa A Haendel, Peter Nick Robinson
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. American journal of medical genetics. Part C, Seminars in medical genetics 190 (2) (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)
Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. Genes 12 (7) (2021)
Bradley S Bowles, Alejandro Ferrer, Carla J Nishimura, Filippo Pinto E Vairo, Tristan Rey, Bruno Leheup, Jennifer A Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovesea, Chelsea Roadhouse, Kirsty McWalter, null null, Ingrid M Wentzensen, Chumei Li, Dusica Babovic-Vuksanovic, Brendan C Lanpher, Maria Lisa Dentici, Arunkanth Ankala, J Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Benedicte Gérard, Agnes Bloch-Zupan, Richard J Smith, Eric W Klee
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. American journal of medical genetics. Part A 185 (8) (2021)
Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature. Genes 12 (7) (2021)
Chiara Leoni, Marta Tedesco, Francesca Clementina Radio, Giovanni Chillemi, Antonio Leone, Alessandro Bruselles, Andrea Ciolfi, Emilia Stellacci, Francesca Pantaleoni, Gianfranco Butera, Donato Rigante, Roberta Onesimo, Tartaglia Marco, Giuseppe Zampino
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. American journal of medical genetics. Part A 185 (10) (2021)
Priolo Manuela, Francesca Clementina Radio, Pizzi Simone, Pintomalli Letizia, Pantaleoni Francesca, Mancini Cecilia, Cordeddu Viviana, Africa Emilio, Mammì Corrado, Dallapiccola Bruno, Tartaglia Marco
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype. Genes 12 (7) (2021)
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)
Domenica I Battaglia, Maria Luigia Gambardella, Stefania Veltri, Ilaria Contaldo, Giovanni Chillemi, Chiara Veredice, Michela Quintiliani, Chiara Leoni, Roberta Onesimo, Tommaso Verdolotti, Francesca Clementina Radio, Diego Martinelli, Marina Trivisano, Nicola Specchio, Charlotte Dravet, Tartaglia Marco, Giuseppe Zampino
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations. Genes 12 (9) (2021)
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Tartaglia Marco, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum. Genes 12 (8) (2021)
Viviana Cordeddu, Erica L Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Massimo Tatti, Emanuele Bellacchio, Andrea Ciolfi, Emanuele Agolini, Alessandro Bruselles, Nicola Brunetti-Pierri, Mohnish Suri, Katherine S Josephs, Meriel McEntagart, Brendan Lanpher, Katherine C Nickels, Andrea Haworth, Laura Reed, Gerarda Cappuccio, Isabella Mammi, Jessica M Tarnowski, Antonio Novelli, null null, Daniela Melis, Bert Callewaert, Bruno Dallapiccola, Eric Klee, Tartaglia Marco
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clinical genetics 98 (2) (2020)
Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro De Luca, Yline Capri, Julia Brinkmann, Francesca Lepri, Paola Daniele, Erika Leenders, Laura Mazzanti, Emanuela Scarano, Francesca Clementina Radio, Kerstin Kutsche, Alma Kuechler, Marion Gérard, Kara Ranguin, Marine Legendre, Yoann Vial, Ineke van der Burgt, Tuula Rinne, Elena Andreucci, Gioia Mastromoro, Maria Cristina Digilio, Hélène Cave, Tartaglia Marco, Martin Zenker
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. European journal of human genetics : EJHG 29 (1) (2020)
Sara Loddo, Viola Alesi, Francesca Clementina Radio, Silvia Genovesea, Silvia Di Tommaso, Giusy Calvieri, Valeria Orlando, Enrico Bertini, Maria Lisa Dentici, Antonio Novelli, Bruno Dallapiccola
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. American journal of medical genetics. Part A 182 (12) (2020)
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E Martina Bebin, Nicole L Bertsch, Patrick R Blackburn, Alyssa Blesson, Arjan M Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M Cooper, Jonas Denecke, Anne Dieux-Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren E Bartik, Lauren B Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W Klee, Katja Kloth, Baiba Lace, Marina Macchiaiolo, Julien L Marcadier, Jeff M Milunsky, Melanie P Napier, Xilma R Ortiz-Gonzalez, Pavel N Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen J Rasmussen, Deborah L Renaud, Eric T Rush, Carol Saunders, Duygu Selcen, Ann R Seman, Deepali N Shinde, Erica D Smith, Thomas Smol, Lot Snijders Blok, Joan M Stoler, Sha Tang, Marco Tartaglia, Michelle L Thompson, Jiddeke M van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H Zackai, Giuseppe Zampino, Philippe M Campeau, Elizabeth Bhoj
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European journal of human genetics : EJHG 28 (10) (2020)
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)
Vincenzo Antona, Federica Scalia, Elisa Giorgio, Francesca Clementina Radio, Alfredo Brusco, Massimiliano Oliveri, Giovanni Corsello, Fabrizio Lo Celso, Maria Vadalà, Everly Conway de Macario, Alberto J L Macario, Francesco Cappello, Mario Giuffrè
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy. International journal of molecular sciences 21 (20) (2020)
Alessandro Ferretti, Sabina Barresi, Marina Trivisano, Andrea Ciolfi, Maria Lisa Dentici, Francesca Clementina Radio, Federico Vigevano, Marco Tartaglia, Nicola Specchio
POGZ-related epilepsy: Case report and review of the literature. American journal of medical genetics. Part A 179 (8) (2019)
Francesca Clementina Radio, Lavinia Di Meglio, Emanuele Agolini, Emanuele Bellacchio, Martina Rinelli, Paolo Toscano, Renata Boldrini, Antonio Novelli, Aniello Di Meglio, Bruno Dallapiccola
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. Molecular genetics & genomic medicine 6 (3) (2018)
Laura Bernardini, Francesca Clementina Radio, Fabio Acquaviva, Cristina Gorgone, Diana Postorivo, Barbara Torres, Viola Alesi, Monia Magliozzi, Fortunato Lonardo, Matteo Della Monica, Anna M Nardone, Claudia Cesario, Teresa Mattina, Gioacchino Scarano, Bruno Dallapiccola, Maria Christina Digilio, Antonio Novelli
Small 4p16.3 deletions: Three additional patients and review of the literature. American journal of medical genetics. Part A 176 (11) (2018)

Francesca Clementina Radio.css-eqlu8i{font-size:small;padding-left:4px;} (Francesca C Radio, Radio Francesca Clementina)

Publication Activity (10 Years)

Top Topics

Top Venues

Francesca Clementina Radio (Francesca C Radio, Radio Francesca Clementina)