Antonio Novelli

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 96

Top Topics

Duchenne Muscular Dystrophy

Dna Methylation

Polycystic Kidney Disease

Top Venues

European journal of human genetics : EJHG

International journal of molecular sciences

Journal of cardiovascular development and disease

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

Publications

Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease. Genes 15 (5) (2024)
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Christina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. Journal of cardiovascular development and disease 11 (4) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Christina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. Journal of cardiovascular development and disease 11 (4) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome. Genes 15 (1) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome. Genes 15 (1) (2024)
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease. Genes 15 (5) (2024)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome. Genes 15 (1) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 32 (7) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Lorenzo Cipriano, Raffaele Piscopo, Chiara Aiello, Antonio Novelli, Achille Iolascon, Carmelo Piscopo
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation. Children (Basel, Switzerland) 11 (5) (2024)
Mario Tortora, Elisa Cattaneo, Luigina Spaccini, Maria Iascone, Barbara Scelsa, Alessia Micalizzi, Antonio Novelli, Mariano Lanna, Andrea Righini, Pierangelo Veggiotti, Chiara Doneda
Novel Genetic Variant in HUWE1 : Prenatal and Postnatal Neuroimaging Phenotype. Neurology. Genetics 10 (4) (2024)
Piera Bontempo, Cecilia Surace, Lucia Menale, Claudia Alicata, Gemma D'Elia, Anna Cristina Tomaiuolo, Daniele Minervino, Elisa Lorefice, Antonio Novelli
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis. Biomedicines 12 (6) (2024)
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Mario Tortora, Elisa Cattaneo, Luigina Spaccini, Maria Iascone, Barbara Scelsa, Alessia Micalizzi, Antonio Novelli, Mariano Lanna, Andrea Righini, Pierangelo Veggiotti, Chiara Doneda
Novel Genetic Variant in HUWE1 : Prenatal and Postnatal Neuroimaging Phenotype. Neurology. Genetics 10 (4) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Lorenzo Cipriano, Raffaele Piscopo, Chiara Aiello, Antonio Novelli, Achille Iolascon, Carmelo Piscopo
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation. Children (Basel, Switzerland) 11 (5) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Christina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. Journal of cardiovascular development and disease 11 (4) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome. Genes 15 (1) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG (2024)
Piera Bontempo, Cecilia Surace, Lucia Menale, Claudia Alicata, Gemma D'Elia, Anna Cristina Tomaiuolo, Daniele Minervino, Elisa Lorefice, Antonio Novelli
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis. Biomedicines 12 (6) (2024)
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease. Genes 15 (5) (2024)
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, Maria Cristina Digilio, Manuela Priolo, Tartaglia Marco
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG (2024)
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease. Genes 15 (5) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis. Genes 14 (1) (2023)
Michela Murdocca, Gennaro Citro, Eleonora Centanini, Rosalinda Giannini, Andrea Latini, Federica Centofanti, Eva Piano Mortari, Dario Cocciadiferro, Antonio Novelli, Sergio Bernardini, Giuseppe Novelli, Federica Carla Sangiuolo
COVID-19: S-Peptide RBD 484-508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients. Viruses 15 (7) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (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)
Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figà Talamanca, Lidia Monti, Francesca Romana Lepri, Maria Sole Basso, Daniela Liccardo, Claudia Della Corte, Antonella Mosca, Tommaso Alterio, Silvio Veraldi, Francesco Callea, Antonio Novelli, Giuseppe Maggiore
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review. Genes 14 (3) (2023)
Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figà Talamanca, Lidia Monti, Francesca Romana Lepri, Maria Sole Basso, Daniela Liccardo, Claudia Della Corte, Antonella Mosca, Tommaso Alterio, Silvio Veraldi, Francesco Callea, Antonio Novelli, Giuseppe Maggiore
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review. 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)
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)
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis. Genes 14 (1) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino
Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements. Biomolecules 13 (5) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis. Genes 14 (2) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis. Genes 14 (2) (2023)
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis. Genes 14 (1) (2023)
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis. Genes 14 (1) (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Vito Luigi Colona, Enrico Silvio Bertini, Maria Cristina Digilio, Adele D'Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum . Brain sciences 13 (11) (2023)
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes. Genes 14 (8) (2023)
Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figà Talamanca, Lidia Monti, Francesca Romana Lepri, Maria Sole Basso, Daniela Liccardo, Claudia Della Corte, Antonella Mosca, Tommaso Alterio, Silvio Veraldi, Francesco Callea, Antonio Novelli, Giuseppe Maggiore
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review. Genes 14 (3) (2023)
Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Janbernd Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PloS one 18 (11) (2023)
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis. Genes 14 (2) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D'Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients. Journal of cardiovascular development and disease 9 (10) (2022)
Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review. Pediatric reports 14 (1) (2022)
Andrea Diociaiuti, Roberta Rotunno, Elisa Pisaneschi, Claudia Cesario, Claudia Carnevale, Angelo Giuseppe Condorelli, Massimo Rollo, Stefano Di Cecca, Concetta Quintarelli, Antonio Novelli, Giovanna Zambruno, Maya El Hachem
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study. Biomedicines 10 (6) (2022)
Valentina Lodato, Giovanni Parlapiano, Federica Calì, Massimo Stefano Silvetti, Rachele Adorisio, Michela Armando, Maya El Hachem, Antonino Romanzo, Carlo Dionisi-Vici, Maria Cristina Digilio, Antonio Novelli, Fabrizio Drago, Massimiliano Raponi, Anwar Baban
Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart? Journal of cardiovascular development and disease 9 (2) (2022)
Giancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe', Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, Andrea Bartuli, Buzzonetti Luca
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients. Diagnostics (Basel, Switzerland) 12 (9) (2022)
Daniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Rossella Ferrante, Silvia Di Michele, Liborio Stuppia, Cristiano Rizzo, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Ines Bucci
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy. International journal of environmental research and public health 19 (13) (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)
Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy. International journal of molecular sciences 23 (21) (2022)
Francesco Fioravanti Passaretti, Laura Pignata, Giuseppina Vitiello, Viola Alesi, Gemma D'Elia, Francesco Cecere, Fabio Acquaviva, Daniele De Brasi, Antonio Novelli, Andrea Riccio, Achille Iolascon, Flavia Cerrato
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum. Genes 13 (10) (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)
Hamdi Mbarek, Massimiliano Cocca, Yasser Al-Sarraj, Chadi Saad, Massimo Mezzavilla, Wadha Al-Muftah, Dario Cocciadiferro, Antonio Novelli, Isabella Quinti, Azza AlTawashi, Salvino Salvaggio, Asma AlThani, Giuseppe Novelli, Said I Ismail
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations. Genes 12 (11) (2021)
Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review. Journal of cardiovascular development and disease 8 (11) (2021)
Silvia Majore, Emanuele Agolini, Lucia Micale, Giulia Pascolini, Paolo Zuppi, Dario Cocciadiferro, Silvia Morlino, Matteo Mattiuzzo, Michele Valiante, Marco Castori, Antonio Novelli, Paola Grammatico
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Clinical genetics 99 (4) (2021)
Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D. International journal of molecular sciences 22 (4) (2021)
Marta Colletti, Angela Galardi, Evelina Miele, Virginia Di Paolo, Ida Russo, Cristiano De Stefanis, Rita De Vito, Martina Rinelli, Andrea Ciolfi, Biagio De Angelis, Angelica Zin, Alessandro Guffanti, Maria Cristina Digilio, Antonio Novelli, Rita Alaggio, Giuseppe Maria Milano, Angela Di Giannatale
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript. International journal of molecular sciences 22 (11) (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)
Chiara Pepi, Luca de Palma, Marina Trivisano, Nicola Pietrafusa, Francesca Romana Lepri, Andrea Diociaiuti, Francesca Diomedi Camassei, Giusy Carfi-Pavia, Alessandro De Benedictis, Camilla Rossi-Espagnet, Federico Vigevano, Carlo Efisio Marras, Antonio Novelli, Ingmar Bluemcke, Nicola Specchio
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature. Brain sciences 11 (6) (2021)
Giancarlo Iarossi, Andrea Maria Coppè, Chiara Passarelli, Paolo Enrico Maltese, Lorenzo Sinibaldi, Alessandro Cappelli, Sarah Cetola, Antonio Novelli, Luca Buzzonetti
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes. International journal of molecular sciences 22 (16) (2021)
Paolo Alfieri, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, Maria Gnazzo, Francesco Demaria, Virginia Pironi, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Stefano Vicari
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study. Journal of clinical medicine 10 (7) (2021)
Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. International journal of molecular sciences 22 (2) (2021)
Valeria Orlando, Viola Alesi, Gianluca Di Giacomo, Michela Canestrelli, Chiara Calacci, Anna Maria Nardone, Giusy Calvieri, Maria Teresa Liambo, Ester Sallicandro, Silvia Di Tommaso, Maria Grazia Di Gregorio, Francesco Corrado, Giuseppe Barrano, Marcello Niceta, Bruno Dallapiccola, Antonio Novelli
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies. Reproductive sciences (Thousand Oaks, Calif.) 28 (4) (2021)
Andrea Latini, Emanuele Agolini, Antonio Novelli, Paola Borgiani, Rosalinda Giannini, Paolo Gravina, Andrea Smarrazzo, Mario Dauri, Massimo Andreoni, Paola Rogliani, Sergio Bernardini, Manuela Helmer-Citterich, Michela Biancolella, Giuseppe Novelli
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells. Genes 11 (9) (2020)
Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. Genes 11 (12) (2020)
Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo, Viola Alesi, Rossella Capolino, Ginevra Zanni, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola, Stefano Vicari, Paolo Alfieri
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling. Brain sciences 10 (11) (2020)