부산대학교 도서관

Guerrera S; Child Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Venezia I; Child Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Health Sciences, Division of Child Neuropsychiatry, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy.; Logrieco MG; Child Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Humanities, University of Foggia, Foggia, Italy.; Casula L; Child Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Capolino R; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Macchiaiolo M; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Casciani F; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Cortellessa F; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Sinibaldi L; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bartuli A; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; D'Elia G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Roberti C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Valeri G; Child Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Vicari S; Child Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Life Sciences and Public Health Department, Catholic University, Rome, Italy.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

van der Sluijs, Pleuntje J. ; Moutton, Sébastien ; Dingemans, Alexander J.M. ; Weis, Denisa ; Levy, Michael A. ; Boycott, Kym M. ; Arberas, Claudia ; Baldassarri, Margherita ; Beneteau, Claire ; Brusco, Alfredo ; Coutton, Charles ; Dabir, Tabib ; Dentici, Maria L. ; Devriendt, Koenraad ; Faivre, Laurence ; van Haelst, Mieke M. ; Jizi, Khadije ; Kempers, Marlies J. ; Kerkhof, Jennifer ; Kharbanda, Mira ; Lachlan, Katherine ; Marle, Nathalie ; McConkey, Haley ; Mencarelli, Maria A. ; Mowat, David. ; Niceta, Marcello ; Nicolas, Claire ; Novelli, Antonio ; Orlando, Valeria ; Pichon, Olivier ; Rankin, Julia ; Relator, Raissa. ; Ropers, Fabienne G. ; Rosenfeld, Jill A. ; Sachdev, Rani ; Sandaradura, Sarah A. ; Shukarova-Angelovska, Elena ; Steenbeek, Duco ; Tartaglia, Marco ; Tedder, Matthew A. ; Trajkova, Slavica ; Winer, Norbert ; Woods, Jeremy ; de Vries, Bert B.A. ; Sadikovic, Bekim ; Alders, Marielle ; Santen, Gijs W.E.

In Genetics in Medicine January 2025 27(1)

Alesi, V.; Genovese, S.; Roberti, M. C.; Sallicandro, E.; Di Tommaso, S.; Loddo, S.; Orlando, V.; Pompili, D.; Calacci, C.; Mei, V.; Pisaneschi, E.; Faggiano, M. V.; Morgia, A.; Mammì, C.; Astrea, G.; Battini, R.; Priolo, M.; Dentici, M. L.; Milone, R.; Novelli, A.

Human Genomics. 18(1)

Radio F. C.; Pang K.; Ciolfi A.; Levy M. A.; Hernandez-Garcia A.; Pedace L.; Pantaleoni F.; Liu Z.; de Boer E.; Jackson A.; Bruselles A.; McConkey H.; Stellacci E.; Lo Cicero S.; Motta M.; Carrozzo R.; Dentici M. L.; McWalter K.; Desai M.; Monaghan K. G.; Telegrafi A.; Philippe C.; Vitobello A.; Au M.; Grand K.; Sanchez-Lara P. A.; Baez J.; Lindstrom K.; Kulch P.; Sebastian J.; Madan-Khetarpal S.; Roadhouse C.; MacKenzie J. J.; Monteleone B.; Saunders C. J.; Jean Cuevas J. K.; Cross L.; Zhou D.; Hartley T.; Sawyer S. L.; Monteiro F. P.; Secches T. V.; Kok F.; Schultz-Rogers L. E.; Macke E. L.; Morava E.; Klee E. W.; Kemppainen J.; Iascone M.; Selicorni A.; Tenconi R.; Amor D. J.; Pais L.; Gallacher L.; Turnpenny P. D.; Stals K.; Ellard S.; Cabet S.; Lesca G.; Pascal J.; Steindl K.; Ravid S.; Weiss K.; Castle A. M. R.; Carter M. T.; Kalsner L.; de Vries B. B. A.; van Bon B. W.; Wevers M. R.; Pfundt R.; Stegmann A. P. A.; Kerr B.; Kingston H. M.; Chandler K. E.; Sheehan W.; Elias A. F.; Shinde D. N.; Towne M. C.; Robin N. H.; Goodloe D.; Vanderver A.; Sherbini O.; Bluske K.; Hagelstrom R. T.; Zanus C.; Faletra F.; Musante L.; Kurtz-Nelson E. C.; Earl R. K.; Anderlid B. -M.; Morin G.; van Slegtenhorst M.; Diderich K. E. M.; Brooks A. S.; Gribnau J.; Boers R. G.; Finestra T. R.; Carter L. B.; Rauch A.; Gasparini P.; Boycott K. M.; Barakat T. S.; Graham J. M.; Faivre L.; Banka S.; Wang T.; Eichler E. E.; Priolo M.; Dallapiccola B.; Vissers L. E. L. M.; Sadikovic B.; Scott D. A.; Holder J. L.; Tartaglia M.

American Journal of Human Genetics, 108, 3, pp. 502-516
SPEN study group 2021, 'SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.01.015

Minotti C; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.; Terreri S; Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Del Fattore A; Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Lepri FR; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Ruta R; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.; Pezzoli L; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.; Dentici ML; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; UniCamillus, Saint Camillus International University of Health Sciences, Rome, Italy.; Armando M; Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Longo D; Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli G; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.; Barbuti D; Diagnostic and Interventional Radiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.; Cavallari U; Medical Genetics Unit, Laboratory Department, Grande Ospedale Metropolitano Niguarda, Milan, Italy.; Graziani L; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.; Digilio MC; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.; Sinibaldi L; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Di Pede A; Medical and Neonatal Sub-Intensive Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Magliozzi M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Valfré L; Neonatal and Pediatric Surgery Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Dentici ML; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Pugnaloni F; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Conforti A; Neonatal and Pediatric Surgery Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Capolupo I; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Braguglia A; Medical and Neonatal Sub-Intensive Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Dotta A; Neonatal Intensive Care Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Bagolan P; Neonatal and Pediatric Surgery Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Digilio MC; Medical Genetics Unit, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson

The Journal of Clinical Investigation, Vol 134, Iss 1 (2024)

Gazzin A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy.; Calvo M; Postgraduate School of Pediatrics, University of Turin, Turin, Italy.; Rondot F; Department of Medical Sciences, University of Turin, Turin, Italy.; Reynolds G; Postgraduate School of Pediatrics, University of Turin, Turin, Italy.; Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Dentici ML; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Digilio MC; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Lepri F; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy.; Carelli I; Department of Medical Sciences, University of Turin, Turin, Italy.; Trevisson E; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, Italy.; Clinical Genetics Unit, Department of Integrated Diagnostic Services, University Hospital of Padova, Padova, Italy.; Scala I; Department of Maternal and Child Health, Federico II University Hospital, Naples, Italy.; Mancano G; Division of Medical Genetics, Meyer Children's Hospital IRCSS, Florence, Italy.; Andreucci E; Division of Medical Genetics, Meyer Children's Hospital IRCSS, Florence, Italy.; Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bozen, Bozen, Italy.; Brancati F; Human Genetics, Department of Life, Human Genetics, Health and Environmental Sciences, University of L' Aquila, L' Aquila, Italy.; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy.; Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Tarani L; Department of Maternal and Child Health, 'Sapienza' University of Rome, Rome, Italy.; Paparella R; Department of Pediatrics, Medical Faculty, 'Sapienza' University of Rome, Rome, Italy.; Carli D; Department of Medical Sciences, University of Turin, Turin, Italy.; Villar AM; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy.; Banaudi E; Massuras S; Pediatric Clinical Genetics, Regina Margherita Children Hospital, Turin, Italy.; Cardaropoli S; Department of Public Health and Pediatrics, University of Turin, Turin, Italy.; Daniele P; Medical Genetics Laboratory, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Airulo E; Department of Public Health and Pediatrics, University of Turin, Turin, Italy.; Riggi C; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy.; Calcagni G; Clinical Cardiology Unit, Division of Cardiac Surgery, Bambino Gesu Pediatric Research Hospital-IRCCS, Rome, Italy.; Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy.; Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy.; De Luca A; Medical Genetics Laboratory, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Mussa A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy. alessandro.mussa@unito.it.; Pediatric Clinical Genetics, Regina Margherita Children Hospital, Turin, Italy. alessandro.mussa@unito.it.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Vecchio D.; Panfili F. M.; Macchiaiolo M.; Dentici M. L.; Trivisano M.; Medina C. B.; Capolino R.; Salzano E.; Cortellessa F.; Busè M.; Pantaleo A.; Cocciadiferro D.; Gonfiantini M. V.; Niceta M.; De Dominicis A.; Specchio N.; Piccione M.; Digilio M. C.; Tartaglia M.; Novelli A.; Bartuli A.

European Journal of Medical Genetics. 73:104990

Zhang, Li Xin ; Lemire, Gabrielle ; Gonzaga-Jauregui, Claudia ; Molidperee, Sirinart ; Galaz-Montoya, Carolina ; Liu, David S. ; Verloes, Alain ; Shillington, Amelle G. ; Izumi, Kosuke ; Ritter, Alyssa L. ; Keena, Beth ; Zackai, Elaine ; Li, Dong ; Bhoj, Elizabeth ; Tarpinian, Jennifer M. ; Bedoukian, Emma ; Kukolich, Mary K. ; Innes, A. Micheil ; Ediae, Grace U. ; Sawyer, Sarah L. ; Nair, Karippoth Mohandas ; Soumya, Para Chottil ; Subbaraman, Kinattinkara R. ; Probst, Frank J. ; Bassetti, Jennifer A. ; Sutton, Reid V. ; Gibbs, Richard A. ; Brown, Chester ; Boone, Philip M. ; Holm, Ingrid A. ; Tartaglia, Marco ; Ferrero, Giovanni Battista ; Niceta, Marcello ; Dentici, Maria Lisa ; Radio, Francesca Clementina ; Keren, Boris ; Wells, Constance F. ; Coubes, Christine ; Laquerrière, Annie ; Aziza, Jacqueline ; Dubucs, Charlotte ; Nampoothiri, Sheela ; Mowat, David ; Patel, Millan S. ; Bracho, Ana ; Cammarata-Scalisi, Francisco ; Gezdirici, Alper ; Fernandez-Jaen, Alberto ; Hauser, Natalie ; Zarate, Yuri A. ; Bosanko, Katherine A. ; Dieterich, Klaus ; Carey, John C. ; Chong, Jessica X. ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Lee, Brendan H. ; Yang, Xiang-Jiao ; Lupski, James R. ; Campeau, Philippe M.

In Genetics in Medicine August 2020 22(8):1338-1347

Del Chierico F.; Marzano V.; Scanu M.; Reddel S.; Dentici M. L.; Capolino R.; Di Donato M.; Spasari I.; Fiscarelli E. V.; Digilio M. C.; Abreu M. T.; Dallapiccola B.; Putignani L.

Sci Rep
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)

Lin, Yuh-Charn ; Niceta, Marcello ; Muto, Valentina ; Vona, Barbara ; Pagnamenta, Alistair T. ; Maroofian, Reza ; Beetz, Christian ; van Duyvenvoorde, Hermine ; Dentici, Maria Lisa ; Lauffer, Peter ; Vallian, Sadeq ; Ciolfi, Andrea ; Pizzi, Simone ; Bauer, Peter ; Grüning, Nana-Maria ; Bellacchio, Emanuele ; Del Fattore, Andrea ; Petrini, Stefania ; Shaheen, Ranad ; Tiosano, Dov ; Halloun, Rana ; Pode-Shakked, Ben ; Albayrak, Hatice Mutlu ; Işık, Emregül ; Wit, Jan M. ; Dittrich, Marcus ; Freire, Bruna L. ; Bertola, Debora R. ; Jorge, Alexander A.L. ; Barel, Ortal ; Sabir, Ataf H. ; Al Tenaiji, Amal M.J. ; Taji, Sulaima M. ; Al-Sannaa, Nouriya ; Al-Abdulwahed, Hind ; Digilio, Maria Cristina ; Irving, Melita ; Anikster, Yair ; Bhavani, Gandham S.L. ; Girisha, Katta M. ; Haaf, Thomas ; Taylor, Jenny C. ; Dallapiccola, Bruno ; Alkuraya, Fowzan S. ; Yang, Ruey-Bing ; Tartaglia, Marco

In The American Journal of Human Genetics 7 January 2021 108(1):115-133

Mohammadi M; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Department of Industrial Engineering and Management Sciences, McCormick School of Engineering, Northwestern University, Evanston, IL, United States of America.; Hasjim BJ; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Balbale SN; Division of Gastroenterology and Hepatology, Department of Medicine, Northwestern University, Chicago, IL, United States of America.; Department of Surgery, Center for Health Services and Outcomes Research, Institute of Public Health and Medicine & Northwestern Quality Improvement, Research, & Education in Surgery (NQUIRES), Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America.; Center of Innovation for Complex Chronic Healthcare (CINCCH), Edward Hines, Jr. VA Hospital, Hines, IL, United States of America.; Polineni P; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Huang AA; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Paukner M; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Division of Biostatistics, Department of Preventative Medicine, Northwestern University, Chicago, IL, United States of America.; Banea T; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Dentici O; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Vitello DJ; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Obayemi JE; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Duarte-Rojo A; Division of Gastroenterology and Hepatology, Department of Medicine, Northwestern University, Chicago, IL, United States of America.; Nadig SN; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Division of Organ Transplantation, Department of Surgery, Northwestern University, Chicago, IL, United States of America.; VanWagner LB; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Division of Digestive and Liver Diseases, Department of Medicine, University of Texas Southwestern Medical Center, Dallas, TX, United States of America.; Zhao L; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Division of Biostatistics, Department of Preventative Medicine, Northwestern University, Chicago, IL, United States of America.; Mehrotra S; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Department of Industrial Engineering and Management Sciences, McCormick School of Engineering, Northwestern University, Evanston, IL, United States of America.; Ladner DP; Northwestern University Transplant Outcomes Research Collaborative (NUTORC), Comprehensive Transplant Center (CTC), Northwestern University, Chicago, IL, United States of America.; Division of Organ Transplantation, Department of Surgery, Northwestern University, Chicago, IL, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Bauer C. K.; Calligari P.; Radio F. C.; Caputo V.; Dentici M. L.; Falah N.; High F.; Pantaleoni F.; Barresi S.; Ciolfi A.; Pizzi S.; Bruselles A.; Person R.; Richards S.; Cho M. T.; Claps Sepulveda D. J.; Pro S.; Battini R.; Zampino G.; Digilio M. C.; Bocchinfuso G.; Dallapiccola B.; Stella L.; Tartaglia M.

The American Journal of Human Genetics. 103:621-630

Garone G.; Innocenti A.; Grasso M.; Mandarino A.; Capuano A.; Della Bella G.; Frascarelli F.; Diodato D.; Onesimo R.; Zampino G.; Novelli A.; Digilio M. C.; Bartuli A.; Dentici M. L.; Parisi P.; Galosi S.; Tonduti D.; Bertini E.; Sinibaldi L.; Specchio N.

Parkinsonism & Related Disorders. 126:107057

Digilio, M C; Pugnaloni, F; De Luca, A; Calcagni, G; Baban, A; Dentici, M L; Versacci, P; Dallapiccola, B; Tartaglia, M; Marino, B

Clinical Genetics. 95:268-276

Loberti L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Adamo L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Antolini E; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Casamassima G; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Destrèe A; Institut de Pathologie et de Génétique, Gosselies, Belgium.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Genevieve D; Montpellier University and INSERM U1183, Montpellier, France; Reference Center for Malformative Syndrome and Developmental Anomalies, Clinical Genetics Unit, Montpellier University Hospital, ERN ITHACA, Montpellier, France.; Christophe P; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, Dijon, France.; Coubes C; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Möllring AC; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zenker M; Institute of Human Genetics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Perrin L; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Maruani A; Excellence Centre for Autism & Neuro-developmental Disorders, Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, and CRMR Déficiences intellectuelles et TND de causes rares-Robert-Debré, Paris, France.; Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Stieber D; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Herissant L; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Dahan K; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Sinibaldi L; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Capolino R; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dallapiccola B; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Piatelli G; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Digilio MC; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Chwiałkowska K; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Jezela-Stanek A; IMAGENE.ME SA, Bialystok, Poland; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Korotko U; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Gorzałczyńska E; IMAGENE.ME SA, Bialystok, Poland.; Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena, Italy.; Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy.; Rahikkala E; Department of Clinical Genetics, Research Unit of Clinical Medicine, and Medical Research Center Oulu, University of Oulu, and Oulu University Hospital, Oulu, Finland.; Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Zuffardi O; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Caputo V; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Toschi B; Medical Genetics Unit, Oncological Department, University Hospital of Pisa, Pisa, Italy.; Beunders G; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van der Laan L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Broekema MF; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Groffen AJ; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van de Kamp JM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Mauro SP; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; De Razza F; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; Varvara D; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; Kick J; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Maier A; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.; Ruault V; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.; Genesio R; Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tita R; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Bruttini M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Longo I; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Baldassarri M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: annamaria.pinto@dbm.unisi.it.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Bensaid S; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France.; Laboratoire d'Environnement et de Santé, Université de Sidi Bel Abbés, UDL, Sidi Bel Abbés, Algeria.; Bendahmane M; Laboratoire d'Environnement et de Santé, Université de Sidi Bel Abbés, UDL, Sidi Bel Abbés, Algeria.; Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Poke G; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.; Januel L; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France.; Nicolle R; AP-HP, Hôpital Necker-Enfants Malades, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, France.; Malan V; AP-HP, Hôpital Necker-Enfants Malades, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, France.; Chatron N; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France.; Université Claude Bernard Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, Lyon, France.; Ottombrino S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Digilio MC; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Sanlaville D; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France.; Université Claude Bernard Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, Lyon, France.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Maglione V; Department of Maternal and Child Health, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Pizzuti A; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.; Mastromoro G; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.; Cresta E; Department of Maternal and Child Health, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Favata P; Department of Maternal and Child Health, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Digilio MC; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Capolino R; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Sinibaldi L; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Novelli A; Cytogenetics and Molecular Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Terrin G; Department of Maternal and Child Health, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Cardilli V; Department of Maternal and Child Health, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Sinibaldi L; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Garone G; Clinical and Experimental Neurology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.; Mandarino A; Child and Adolescent Neuropsychiatry Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.; Iarossi G; Department of Ophthalmology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Chioma L; Endocrinology and Diabetology Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.; Dentici ML; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Mancini C; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Niceta M; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Macchiaiolo M; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Diodato D; Neuromuscular and Neurodegenerative Disorders Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Onesimo R; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Blandino R; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Delogu AB; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; De Rosa G; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Trevisan V; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Iademarco M; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Zampino G; Rare Diseases Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Università Cattolica Sacro Cuore, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Bartuli A; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Digilio MC; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Calcagni G; Department of Cardiac Surgery, Cardiology and Heart and Lung Transplant, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE