Tartaglia Marco (M Tartaglia, Marco Tartaglia)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 139

Top Venues

European journal of human genetics : EJHG

Clinical genetics

American journal of medical genetics. Part A

Genes

Ospedale Pediatrico Bambino Gesù

Università degli Studi di Firenze (MSC)

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

Affiliation History

Ospedale Pediatrico Bambino Gesù

Italy

Head, "Molecular Genetics and Functional Genomics" Research Unit :: Genetics and rare Diseases Research Division

Ospedale Pediatrico Bambino Gesù

Italy

Head :: Genetics and Rare Diseases Research Division

Istituto Superiore di Sanità

Italy

Head, "Physiopathology of Genetic Diseases" Section :: Dept. Hematology, Oncology and Molecular Medicine

Istituto Superiore di Sanità

Italy

Senior scientist :: Dept. Cell Biology and Neurosciences, Dept. Oncology, Hematology and Mol. Medicine

Istituto Superiore di Sanità

Italy

Head, "Molecular and Cellular Endocrinology" Section :: Dept. Cell Biology and Neurosciences

Istituto Superiore di Sanità

Italy

in-staff researcher :: Dept. Metabolism and Pathological Chemistry, Dept. Cell Biology and Neurosciences

Education History

Università degli Studi di Firenze

Italy

MSC

Università degli Studi di Roma "Tor Vergata"

Italy

PHD :: Dipartimento di Biologia

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)
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)
Daniela Cesana, Maria Pia Cicalese, Andrea Calabria, Pietro Merli, Roberta Caruso, Monica Volpin, Laura Rudilosso, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Francesco Gazzo, Simone Pizzi, Andrea Ciolfi, Alessandro Bruselles, Francesca Tucci, Giulio Spinozzi, Giulia Pais, Fabrizio Benedicenti, Matteo Barcella, Ivan Merelli, Pierangela Gallina, Stefania Giannelli, Francesca Dionisio, Serena Scala, Miriam Casiraghi, Luisa Strocchio, Luciana Vinti, Lucia Pacillo, Eleonora Draghi, Marcella Cesana, Sara Riccardo, Chiara Colantuono, Emmanuelle Six, Marina Cavazzana, Filippo Carlucci, Manfred Schmidt, Caterina Cancrini, Fabio Ciceri, Luca Vago, Davide Cacchiarelli, Bernhard Gentner, Luigi Naldini, Tartaglia Marco, Eugenio Montini, Franco Locatelli, Alessandro Aiuti
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID. 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 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)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (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)
Fieke Draaisma, Erika K S M Leenders, Corrie E Erasmus, Hilde M H Braakman, Melanie C J Burgers, Catelijne H Coppens, Tuula Rinne, Martin Zenker, Tartaglia Marco, Wesley Reintjes, Nicol C Voermans, Baziel G M van Engelen, Nens van Alfen, Jos M Th Draaisma
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study. American journal of medical genetics. Part A (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)
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen B M Claes, Julie De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R Scimone, Mark E Lindsay, Lisa A Schimmenti, Alicia M Hinze, Emily Dunn, Natalia Gomez-Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valerie Cormier-Daire, Tartaglia Marco, Livia Garavelli, Joseph T C Shieh, Şenol Demir, Esra Arslan Ates, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou Houge, null null, Angela E Lin, Bert Callewaert
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. European journal of human genetics : EJHG 32 (9) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (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)
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, Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill A Rosenfeld, Laurence Faivre, Frederic Tran Mau-Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan S Shinawi, Chloe Mighton, Charlotte Fung, Chantal F Morel, Jordan Lerner-Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Alexander P A Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Giuseppe Zampino, Saskia B Wortmann, Johannes A Mayr, René G Feichtinger, 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. Annals of neurology (2024)
Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Tartaglia Marco, Giovanni Battista Ferrero, Alessandro Mussa
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib. Life (Basel, Switzerland) 14 (6) (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, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A (2024)
Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Tartaglia Marco, Giovanni Battista Ferrero, Alessandro Mussa
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib. Life (Basel, Switzerland) 14 (6) (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)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (8) (2024)
Marialetizia Motta, Sabina Barresi, Simone Pizzi, Delfina Bifano, Jennifer Lopez Marti, Marta Garrido-Pontnou, Elisabetta Flex, Alessandro Bruselles, Isabella Giovannoni, Giovannina Rotundo, Alessandra Fragale, Valentina Tirelli, Silvia Vallese, Andrea Ciolfi, Gianni Bisogno, Rita Alaggio, Tartaglia Marco
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors. The Journal of pathology 263 (2) (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)
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen B M Claes, Julie De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R Scimone, Mark E Lindsay, Lisa A Schimmenti, Alicia M Hinze, Emily Dunn, Natalia Gomez-Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valerie Cormier-Daire, Tartaglia Marco, Livia Garavelli, Joseph T C Shieh, Şenol Demir, Esra Arslan Ates, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou Houge, null null, Angela E Lin, Bert Callewaert
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. European journal of human genetics : EJHG (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (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 32 (8) (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (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)
Daniela Cesana, Maria Pia Cicalese, Andrea Calabria, Pietro Merli, Roberta Caruso, Monica Volpin, Laura Rudilosso, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Francesco Gazzo, Simone Pizzi, Andrea Ciolfi, Alessandro Bruselles, Francesca Tucci, Giulio Spinozzi, Giulia Pais, Fabrizio Benedicenti, Matteo Barcella, Ivan Merelli, Pierangela Gallina, Stefania Giannelli, Francesca Dionisio, Serena Scala, Miriam Casiraghi, Luisa Strocchio, Luciana Vinti, Lucia Pacillo, Eleonora Draghi, Marcella Cesana, Sara Riccardo, Chiara Colantuono, Emmanuelle Six, Marina Cavazzana, Filippo Carlucci, Manfred Schmidt, Caterina Cancrini, Fabio Ciceri, Luca Vago, Davide Cacchiarelli, Bernhard Gentner, Luigi Naldini, Tartaglia Marco, Eugenio Montini, Franco Locatelli, Alessandro Aiuti
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID. Nature communications 15 (1) (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (8) (2024)
Marialetizia Motta, Sabina Barresi, Simone Pizzi, Delfina Bifano, Jennifer Lopez Marti, Marta Garrido-Pontnou, Elisabetta Flex, Alessandro Bruselles, Isabella Giovannoni, Giovannina Rotundo, Alessandra Fragale, Valentina Tirelli, Silvia Vallese, Andrea Ciolfi, Gianni Bisogno, Rita Alaggio, Tartaglia Marco
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors. The Journal of pathology (2024)
Daniela Cesana, Maria Pia Cicalese, Andrea Calabria, Pietro Merli, Roberta Caruso, Monica Volpin, Laura Rudilosso, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Francesco Gazzo, Simone Pizzi, Andrea Ciolfi, Alessandro Bruselles, Francesca Tucci, Giulio Spinozzi, Giulia Pais, Fabrizio Benedicenti, Matteo Barcella, Ivan Merelli, Pierangela Gallina, Stefania Giannelli, Francesca Dionisio, Serena Scala, Miriam Casiraghi, Luisa Strocchio, Luciana Vinti, Lucia Pacillo, Eleonora Draghi, Marcella Cesana, Sara Riccardo, Chiara Colantuono, Emmanuelle Six, Marina Cavazzana, Filippo Carlucci, Manfred Schmidt, Caterina Cancrini, Fabio Ciceri, Luca Vago, Davide Cacchiarelli, Bernhard Gentner, Luigi Naldini, Tartaglia Marco, Eugenio Montini, Franco Locatelli, Alessandro Aiuti
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID. 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 (2024)
Marialetizia Motta, Sabina Barresi, Simone Pizzi, Delfina Bifano, Jennifer Lopez Marti, Marta Garrido-Pontnou, Elisabetta Flex, Alessandro Bruselles, Isabella Giovannoni, Giovannina Rotundo, Alessandra Fragale, Valentina Tirelli, Silvia Vallese, Andrea Ciolfi, Gianni Bisogno, Rita Alaggio, Tartaglia Marco
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors. The Journal of pathology 263 (2) (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)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG (2024)
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen B M Claes, Julie De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R Scimone, Mark E Lindsay, Lisa A Schimmenti, Alicia M Hinze, Emily Dunn, Natalia Gomez-Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valerie Cormier-Daire, Tartaglia Marco, Livia Garavelli, Joseph T C Shieh, Şenol Demir, Esra Arslan Ates, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou Houge, null null, Angela E Lin, Bert Callewaert
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. European journal of human genetics : EJHG (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A (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)
Daniela Cesana, Maria Pia Cicalese, Andrea Calabria, Pietro Merli, Roberta Caruso, Monica Volpin, Laura Rudilosso, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Francesco Gazzo, Simone Pizzi, Andrea Ciolfi, Alessandro Bruselles, Francesca Tucci, Giulio Spinozzi, Giulia Pais, Fabrizio Benedicenti, Matteo Barcella, Ivan Merelli, Pierangela Gallina, Stefania Giannelli, Francesca Dionisio, Serena Scala, Miriam Casiraghi, Luisa Strocchio, Luciana Vinti, Lucia Pacillo, Eleonora Draghi, Marcella Cesana, Sara Riccardo, Chiara Colantuono, Emmanuelle Six, Marina Cavazzana, Filippo Carlucci, Manfred Schmidt, Caterina Cancrini, Fabio Ciceri, Luca Vago, Davide Cacchiarelli, Bernhard Gentner, Luigi Naldini, Tartaglia Marco, Eugenio Montini, Franco Locatelli, Alessandro Aiuti
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID. Nature communications 15 (1) (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)
Marialetizia Motta, Sabina Barresi, Simone Pizzi, Delfina Bifano, Jennifer Lopez Marti, Marta Garrido-Pontnou, Elisabetta Flex, Alessandro Bruselles, Isabella Giovannoni, Giovannina Rotundo, Alessandra Fragale, Valentina Tirelli, Silvia Vallese, Andrea Ciolfi, Gianni Bisogno, Rita Alaggio, Tartaglia Marco
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors. The Journal of pathology 263 (2) (2024)
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke S Møller, Andrea Ciolfi, Tartaglia Marco, Zeynep Tümer
DNA methylation signature classification of rare disorders using publicly available methylation data. Clinical genetics (2023)
Manuela Priolo, Tartaglia Marco
The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time. International journal of environmental research and public health 20 (5) (2023)
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)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (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)
Valentina Muto, Federica Benigni, Valentina Magliocca, Rossella Borghi, Elisabetta Flex, Valentina Pallottini, Alessandro Rosa, Claudia Compagnucci, Tartaglia Marco
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes. International journal of molecular sciences 24 (9) (2023)
Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Tartaglia Marco, Giuseppe Zampino
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome. Genes 14 (10) (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)
Manuela Priolo, Tartaglia Marco
The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time. International journal of environmental research and public health 20 (5) (2023)
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Tartaglia Marco, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geissler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature communications 14 (1) (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)
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Chiara Leoni, Francesco Proli, Cristiana Agazzi, D Limongelli, A Cerchiari, Tartaglia Marco, Giuseppe Zampino
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome. European journal of pediatrics (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 Monda, Aaron R Prosnitz, Rossella Aiello, Michele Lioncino, Gabrielle Norrish, Martina Caiazza, Fabrizio Drago, Meaghan J Beattie, Tartaglia Marco, Maria Giovanna Russo, Steven D Colan, Giulio Calcagni, Bruce D Gelb, Juan Pablo Pablo Kaski, Amy E Roberts, Giuseppe Limongelli
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. Circulation. Genomic and precision medicine (2023)
Manuela Priolo, Cecilia Mancini, Francesca Clementina Radio, Luigi Chiriatti, Andrea Ciolfi, Camilla Cappelletti, Viviana Cordeddu, Letizia Pintomalli, Alfredo Brusco, Corrado Mammi, Tartaglia Marco
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Manuela Priolo, Tartaglia Marco
The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time. International journal of environmental research and public health 20 (5) (2023)
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D Buxbaum, Tommaso Pippucci, Tartaglia Marco, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. European journal of human genetics : EJHG (2023)
Bing Zhang, Sensen Zhang, Maya M Polovitskaya, Jingbo Yi, Binglu Ye, Ruochong Li, Xueying Huang, Jian Yin, Sebastian Neuens, Tom Balfroid, Julie Soblet, Daphné Vens, Alec Aeby, Xiaoling Li, Jinjin Cai, Yingcai Song, Yuanxi Li, Tartaglia Marco, Yang Li, Thomas J Jentsch, Maojun Yang, Zhi-Qiang Liu
Molecular basis of ClC-6 function and its impairment in human disease. Science advances 9 (41) (2023)
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Lucrezia Perri, Valentina Trevisan, Elisabetta Flex, Tartaglia Marco, Giuseppe Zampino
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. Clinical genetics (2023)
Manuela Priolo, Tartaglia Marco
The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time. International journal of environmental research and public health 20 (5) (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)
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Perri Lucrezia, Valentina Trevisan, Elisabetta Flex, Tartaglia Marco, Giuseppe Zampino
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. Clinical genetics (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)
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Tartaglia Marco, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geissler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature communications 14 (1) (2023)
Valentina Muto, Federica Benigni, Valentina Magliocca, Rossella Borghi, Elisabetta Flex, Valentina Pallottini, Alessandro Rosa, Claudia Compagnucci, Tartaglia Marco
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes. International journal of molecular sciences 24 (9) (2023)
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke Steensjerre Moller, Andrea Ciolfi, Tartaglia Marco, Zeynep Tümer
DNA methylation signature classification of rare disorders using publicly available methylation data. Clinical genetics (2023)
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Germana Viscogliosi, Eliza Maria Kuczynska, Gaia Margiotta, Lucrezia Perri, Domenico Limongelli, Francesco Proli, Cristina De Rose, Donato Rigante, Antonella Cerchiari, Tartaglia Marco, Chiara Leoni, Giuseppe Zampino
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome. Genes 14 (7) (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)
Chiara Leoni, Filomena Valentina Paradiso, Nazario Foschi, Marta Tedesco, Francesco Pierconti, Sara Silvaroli, Mario Di Diego, Lisa Birritella, Francesca Pantaleoni, Claudia Rendeli, Roberta Onesimo, Germana Viscogliosi, Pierfrancesco Bassi, Lorenzo Nanni, Maurizio Genuardi, Tartaglia Marco, Giuseppe Zampino
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making. Clinical genetics 101 (4) (2022)
Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto Broniscer, Pau Castel, Caitlin A Chang, Lukas Cyganek, Tirtha K Das, Jeroen den Hertog, Emilia Galperin, Shruti Garg, Bruce D Gelb, Kristiana Gordon, Tamar Green, Karen W Gripp, Maxim Itkin, Maija Kiuru, Bruce R Korf, Jeff R Livingstone, Alejandro López-Juárez, Pilar L Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I Pierpont, Kevin Plouffe, Katherine A Rauen, Suma P Shankar, Shane B Smith, David A Stevenson, Tartaglia Marco, Richard Van, Morgan E Wagner, Stephanie M Ware, Martin Zenker
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. American journal of medical genetics. Part A 188 (6) (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)
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Francesca Cumbo, Simone Piga, Tartaglia Marco, Serena Licchelli, Maria Cristina Digilio, Stefano Vicari
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Agnese Giovannetti, Salvatore Daniele Bianco, Alice Traversa, Noemi Panzironi, Alessandro Bruselles, Sara Lazzari, Niccolò Liorni, Tartaglia Marco, Massimo Carella, Antonio Pizzuti, Tommaso Mazza, Viviana Caputo
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants. Human mutation 43 (9) (2022)
Roberto Paparella, Anna Maria Caroleo, Emanuele Agolini, Giovanni Chillemi, Evelina Miele, Lucia Pedace, Martina Rinelli, Simone Pizzi, Luigi Boccuto, Giovanna Stefania Colafati, Mariachiara Lodi, Antonella Cacchione, Andrea Carai, Maria Cristina Digilio, Paolo Tomà, Tartaglia Marco, Angela Mastronuzzi
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant. American journal of medical genetics. Part A 188 (9) (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)
Tartaglia Marco, Yoko Aoki, Bruce D Gelb
The molecular genetics of RASopathies: An update on novel disease genes and new disorders. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus John Clarke, Barbara R DuPont, Mariet W Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S Fletcher, Florian Cherick, Aidin Foroutan, Michael J Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A Hilton, Zandra A Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J Louie, Silvia Maitz, Donatella Milani, Angela T Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R Pallares, Maria Piccione, Astrid S Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen P Robertson, Kathleen Rooney, Justine Rousseau, Gijs W E Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella M Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J van der Sluijs, Samantha A Vergano, Niels Vos, Kellie K Walden, Dimitar Azmanov, Tugce B Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A Lee, Marcel M A M Mannens, Tony Roscioli, Victoria Siu, David J Amor, Gareth Baynam, Eric G Bend, Kym M Boycott, Nicola Brunetti-Pierri, Philippe M Campeau, Dominique Campion, John Chrisodoulou, David Dyment, Natacha Esber, Jill A Fahrner, Mark Daniel Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D Kernohan, Alisdair McNeill, Leonie A Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A Skinner, Roger E Stevenson, Marie Vincent, Antonio Vitobello, Tartaglia Marco, Marielle Alders, Matthew L Tedder, Bekim Sadikovic
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human mutation 43 (11) (2022)
Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne B Kamphausen, Cécile Thomas-Teinturier, Anne Guimier, Viviana Cordeddu, Laura Mazzanti, Giuseppe Zampino, Giovanni Chillemi, Martin Zenker, Hélène Cavé, Jeroen den Hertog, Tartaglia Marco
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Human molecular genetics 31 (16) (2022)
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Francesca Cumbo, Simone Piga, Tartaglia Marco, Serena Licchelli, Maria Cristina Digilio, Stefano Vicari
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Tartaglia Marco
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Human molecular genetics (2022)
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Francesca Cumbo, Simone Piga, Tartaglia Marco, Serena Licchelli, Maria Cristina Digilio, Stefano Vicari
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Fiorella Colasuonno, Chiara Marioli, Tartaglia Marco, Enrico Silvio Bertini, Claudia Compagnucci, Sandra Moreno
New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement. Biomedicines 10 (6) (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)
Edoardo Monfrini, Andrea Ciolfi, Francesco Cavallieri, Marco Ferilli, Paola Soliveri, Lucia Pedace, Roberto Erro, Francesca Del Sorbo, Franco Valzania, Valentina Fioravanti, Giovanni Cossu, Maria Pellegrini, Leonardo Salviati, Federica Invernizzi, Valentina Oppo, Daniela Murgia, Bruno Giometto, Marina Picillo, Barbara Garavaglia, Francesca Morgante, Tartaglia Marco, Miryam Carecchio, Alessio di Fonzo
Adult-onset KMT2B-related dystonia. Brain communications 4 (6) (2022)
Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Tartaglia Marco, Andrea Bartuli, Corrado Mammì, Stefano Vicari, Manuela Priolo
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome. Journal of clinical medicine 11 (14) (2022)
Geeske M van Woerden, Richelle Senden, Charlotte de Konink, Rossella A Trezza, Anwar Baban, Jennifer A Bassetti, Yolande van Bever, Lynne M Bird, Bregje W van Bon, Alice S Brooks, Qiaoning Guan, Eric W Klee, Carlo Marcelis, Joel M Rosado, Lisa A Schimmenti, Amy R Shikany, Paulien A Terhal, Kathryn Nicole Weaver, Marja W Wessels, Hester van Wieringen, Anna C Hurst, Catherine F Gooch, Katharina Steindl, Pascal Joset, Anita Rauch, Tartaglia Marco, Marcello Niceta, Ype Elgersma, Serwet Demirdas
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Human mutation 43 (10) (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)

Tartaglia Marco.css-eqlu8i{font-size:small;padding-left:4px;} (M Tartaglia, Marco Tartaglia)

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Tartaglia Marco (M Tartaglia, Marco Tartaglia)