Marcello Niceta

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 40

Top Venues

European journal of human genetics : EJHG

International journal of molecular sciences

Clinical genetics

Nature communications

Ospedale Pediatrico Bambino Gesù

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

Affiliation History

Ospedale Pediatrico Bambino Gesù

Italy

Principal Investigator :: Genetics and Rare Diseases Research Division

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)
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)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (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)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 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)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (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)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (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)
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)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 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)
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)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (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)
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)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria Lisa Dentici, Tartaglia Marco, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F Lauridsen, Oliver Murch, Rachel Irving, Sally A Lynch, Sarju G Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M Johannesen, Ian T Westphall, Susan S Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S Møller, Guido Rubboli, Allan Bayat
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clinical genetics (2023)
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Maria Lisa Dentici, Giuseppe Merla, Emanuele Agolini, Alessia Micalizzi, Cecilia Mancini, Marcello Niceta, Marina Macchiaiolo, Daria Diodato, Roberta Onesimo, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Valentina Trevisan, Mariella Iademarco, Giuseppe Zampino, Tartaglia Marco, Antonio Novelli, Andrea Bartuli, Maria Christina Digilio, Giulio Calcagni
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. Clinical genetics (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)
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)
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)
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid M B H van de Laar, Tartaglia Marco, Bekim Sadikovic, Anne-Sophie Lèbre
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome. International journal of molecular sciences 23 (3) (2022)
Silvia Kalantari, Colleen M Carlston, Norah S Alsaleh, Ghada M H Abdel-Salam, Fowzan Sami Alkuraya, Mitsuhiro Kato, Naomichi Matsumoto, Satoko Miyatake, Tatsuya Yamamoto, Lucas Fares-Taie, Jean-Michel Rozet, Nicolas Chassaing, Catherine Vincent-Delorme, Anjeung Kang-Bellin, Kirsty McWalter, Caleb P Bupp, Emily Palen, Monisa D Wagner, Marcello Niceta, Claudia Cesario, Roberta Milone, Julie Kaplan, Erin Wadman, William B Dobyns, Isabel Filges
Expanding the KIF4A-associated phenotype. American journal of medical genetics. Part A 185 (12) (2021)
Giulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Marcello Niceta, Anwar Baban, Francesca Piceci Sparascio, Fabrizio Drago, Alessandro De Luca, Tartaglia Marco, Bruno Marino, Paolo Versacci
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights. Genes 12 (7) (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)
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. BMC pediatrics 20 (1) (2020)
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)
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Andrea Ciolfi, Marina Trivisano, Andrea Bartuli, Maria Christina Digilio, Nicola Specchio, Bruno Dallapiccola, Marco Tartaglia
Expanding the clinical spectrum associated with PACS2 mutations. Clinical genetics 95 (4) (2019)

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Marcello Niceta