11573/1717737 - 2024 -
Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies Carpentieri, Giovanna; Cecchetti, Serena; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Leoni, Chiara; Onesimo, Roberta; Calligari, Paolo; Pietrantoni, Agostina; Ciolfi, Andrea; Ferilli, Marco; Calderan, Cristina; Cappuccio, Gerarda; Martinelli, Simone; Messina, Elena; Caputo, Viviana; Hüffmeier, Ulrike; Mignot, Cyril; Auvin, Stéphane; Capri, Yline; Lourenco, Charles Marques; Russell, Bianca E; Neustad, Ahna; Pierri, Nicola Brunetti; Keren, Boris; Reis, André; Cohen, Julie S; Heidlebaugh, Alexis; Smith, Clay; Thiel, Christian T; Salviati, Leonardo; Zampino, Giuseppe; Campeau, Philippe M; Stella, Lorenzo; Tartaglia, Marco; Flex, Elisabetta - 01a Articolo in rivista
paper: HGG ADVANCES (New York: Cell Press Elsevier Inc.) pp. 1-17 - issn: 2666-2477 - wos: WOS:001325375900001 (0) - scopus: (0)
11573/1726598 - 2024 -
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cavé, Helene; Digilio, Maria Cristina; Tartaglia, Marco - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF HUMAN GENETICS (First or current publisher Basel ; New York : Karger, [1992]-
Intervening publisher [Houndmills, Basingstoke, Hampshire, UK] : Stockton Press
Intervening publisher [London?] : MacMillan Publishers Ltd.
Current or last publisher [London] : Nature Publishing Group) pp. 954-963 - issn: 1476-5438 - wos: WOS:001239427400001 (1) - scopus: 2-s2.0-85194714874 (2)
11573/1726600 - 2024 -
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism Niceta, Marcello; Ciolfi, Andrea; Ferilli, Marco; Pedace, Lucia; Cappelletti, Camilla; Nardini, Claudia; Hildonen, Mathis; Chiriatti, Luigi; Miele, Evelina; Dentici, Maria Lisa; Gnazzo, Maria; Cesario, Claudia; Pisaneschi, Elisa; Baban, Anwar; Novelli, Antonio; Maitz, Silvia; Selicorni, Angelo; Squeo, Gabriella Maria; Merla, Giuseppe; Dallapiccola, Bruno; Tumer, Zeynep; Digilio, Maria Cristina; Priolo, Manuela; Tartaglia, Marco - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF HUMAN GENETICS (First or current publisher Basel ; New York : Karger, [1992]-
Intervening publisher [Houndmills, Basingstoke, Hampshire, UK] : Stockton Press
Intervening publisher [London?] : MacMillan Publishers Ltd.
Current or last publisher [London] : Nature Publishing Group) pp. - - issn: 1476-5438 - wos: WOS:001190491700004 (1) - scopus: 2-s2.0-85188530138 (1)
11573/1667240 - 2023 -
DNA methylation signature classification of rare disorders using publicly available methylation data Hildonen, Mathis; Ferilli, Marco; Hjortshøj, Tina Duelund; Dunø, Morten; Risom, Lotte; Bak, Mads; Ek, Jakob; Møller, Rikke S; Ciolfi, Andrea; Tartaglia, Marco; Tümer, Zeynep - 01a Articolo in rivista
paper: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 688-692 - issn: 0009-9163 - wos: WOS:000928656600001 (3) - scopus: 2-s2.0-85147499703 (3)
11573/1696213 - 2023 -
Identification of a robust DNA methylation signature for Fanconi anemia Pagliara, Daria; Ciolfi, Andrea; Pedace, Lucia; Haghshenas, Sadegheh; Ferilli, Marco; Levy, Michael A; Miele, Evelina; Nardini, Claudia; Cappelletti, Camilla; Relator, Raissa; Pitisci, Angela; De Vito, Rita; Pizzi, Simone; Kerkhof, Jennifer; Mcconkey, Haley; Nazio, Francesca; Kant, Sarina G; Di Donato, Maddalena; Agolini, Emanuele; Matraxia, Marta; Pasini, Barbara; Pelle, Alessandra; Galluccio, Tiziana; Novelli, Antonio; Barakat, Tahsin Stefan; Andreani, Marco; Rossi, Francesca; Mecucci, Cristina; Savoia, Anna; Sadikovic, Bekim; Locatelli, Franco; Tartaglia, Marco - 01a Articolo in rivista
paper: AMERICAN JOURNAL OF HUMAN GENETICS (Chicago, Ill. : University of Chicago Press for the American Society of Human Genetics) pp. 1938-1949 - issn: 1537-6605 - wos: WOS:001110012800001 (1) - scopus: 2-s2.0-85175444113 (1)
11573/1666242 - 2022 -
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants Ferilli, Marco; Ciolfi, Andrea; Pedace, Lucia; Niceta, Marcello; Radio, Francesca Clementina; Pizzi, Simone; Miele, Evelina; Cappelletti, Camilla; Mancini, Cecilia; Galluccio, Tiziana; Andreani, Marco; Iascone, Maria; Chiriatti, Luigi; Novelli, Antonio; Micalizzi, Alessia; Matraxia, Marta; Menale, Lucia; Faletra, Flavio; Prontera, Paolo; Pilotta, Alba; Bedeschi, Maria Francesca; Capolino, Rossella; Baban, Anwar; Seri, Marco; Mammì, Corrado; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Priolo, Manuela; Tartaglia, Marco - 01a Articolo in rivista
paper: GENES (Basel : Molecular Diversity Preservation International) pp. 1-17 - issn: 2073-4425 - wos: WOS:000894843600001 (4) - scopus: 2-s2.0-85142625094 (4)
11573/1666239 - 2022 -
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders Levy, Michael A; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S; Cherick, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie R; Piccione, Maria; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; Van Der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce B; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim - 01a Articolo in rivista
paper: HUMAN MUTATION ([New York, N.Y.] : Wiley-Liss, Inc., c1992-) pp. 1609-1628 - issn: 1098-1004 - wos: WOS:000842416800001 (35) - scopus: 2-s2.0-85136511967 (34)
Monfrini, Edoardo; Ciolfi, Andrea; Cavallieri, Francesco; Ferilli, Marco; Soliveri, Paola; Pedace, Lucia; Erro, Roberto; Del Sorbo, Francesca; Valzania, Franco; Fioravanti, Valentina; Cossu, Giovanni; Pellegrini, Maria; Salviati, Leonardo; Invernizzi, Federica; Oppo, Valentina; Murgia, Daniela; Giometto, Bruno; Picillo, Marina; Garavaglia, Barbara; Morgante, Francesca; Tartaglia, Marco; Carecchio, Miryam; Di Fonzo, Alessio - 01a Articolo in rivista
paper: BRAIN COMMUNICATIONS ([Oxford]: Oxford University Press on behalf of the Guarantors of Brain) pp. 1-8 - issn: 2632-1297 - wos: WOS:000887252200004 (2) - scopus: 2-s2.0-85144966986 (3)
11573/1620615 - 2022 -
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome Motta, Marialetizia; Solman, Maja; Alice Bonnard, Adeline; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne; Thomas-Teinturier, Cécile; Guimier Md15, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni; Zenker, Martin; Cavé, Hélène; Den Hertog, Jeroen; Tartaglia., Marco - 01a Articolo in rivista
paper: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 2766-2778 - issn: 0964-6906 - wos: WOS:000787997700001 (9) - scopus: 2-s2.0-85137124974 (9)