학술논문
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'학술논문'
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Academic Journal
In Molecular Genetics and Metabolism Reports June 2025 43
Academic Journal
Paganini, Chiara ; Carroll, Ricki S. ; Gramegna Tota, Chiara ; Schelhaas, Andrea J. ; Leone, Alessandra ; Duker, Angela L. ; O'Connell, David A. ; Coghlan, Ryan F. ; Johnstone, Brian ; Ferreira, Carlos R. ; Peressini, Sabrina ; Albertini, Riccardo ; Forlino, Antonella ; Bonafé, Luisa ; Campos-Xavier, Ana Belinda ; Superti-Furga, Andrea ; Zankl, Andreas ; Rossi, Antonio ; Bober, Michael B.
In Bone October 2023 175
Academic Journal
Koval, Alexey ; Larasati, Yonika A. ; Savitsky, Mikhail ; Solis, Gonzalo P. ; Good, Jean-Marc ; Quinodoz, Mathieu ; Rivolta, Carlo ; Superti-Furga, Andrea ; Katanaev, Vladimir L.
In Med 12 May 2023 4(5):311-325
Academic Journal
Tankeu, Aurel T. ; Van Winckel, Geraldine ; Elmers, Jolanda ; Jaccard, Evrim ; Superti-Furga, Andrea ; Wolf, Barry ; Tran, Christel
In Molecular Genetics and Metabolism April 2023 138(4)
Academic Journal
Redin, Claire ; Pavlidou, Despina Christina ; Bhuiyan, Zahurul ; Porretta, Alessandra Pia ; Monney, Pierre ; Bedoni, Nicola ; Maurer, Fabienne ; Sekarski, Nicole ; Atallah, Isis ; Émeline, Davoine ; Jeanrenaud, Xavier ; Pruvot, Etienne ; Fellay, Jacques ; Superti-Furga, Andrea
In European Journal of Medical Genetics December 2022 65(12)
Academic Journal
Porretta, Alessandra P. ; Probst, Vincent ; Bhuiyan, Zahurul A. ; Davoine, Emeline ; Delinière, Antoine ; Pascale, Patrizio ; Schlaepfer, Juerg ; Superti-Furga, Andrea ; Pruvot, Etienne
In Heart Rhythm August 2022 19(8):1363-1368
Academic Journal
Quinodoz, Mathieu ; Peter, Virginie G. ; Cisarova, Katarina ; Royer-Bertrand, Beryl ; Stenson, Peter D. ; Cooper, David N. ; Unger, Sheila ; Superti-Furga, Andrea ; Rivolta, Carlo
In The American Journal of Human Genetics 3 March 2022 109(3):457-470
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T. ; Lamothe, Shawn M. ; Maghera, Jasmine ; Jamra, Rami Abou ; Alkelai, Anna ; Antonarakis, Stylianos E. ; Atallah, Isis ; Bar-Yosef, Omer ; Bilan, Frédéric ; Bjorgo, Kathrine ; Blanc, Xavier ; Van Bogaert, Patrick ; Bolkier, Yoav ; Burrage, Lindsay C. ; Christ, Björn U. ; Granadillo, Jorge L. ; Dickson, Patricia ; Donald, Kirsten A. ; Dubourg, Christèle ; Eliyahu, Aviva ; Emrick, Lisa ; Engleman, Kendra ; Gonfiantini, Michaela Veronika ; Good, Jean-Marc ; Kalser, Judith ; Kloeckner, Chiara ; Lachmeijer, Guus ; Macchiaiolo, Marina ; Nicita, Francesco ; Odent, Sylvie ; O’Heir, Emily ; Ortiz-Gonzalez, Xilma ; Pacio-Miguez, Marta ; Palomares-Bralo, María ; Pena, Loren ; Platzer, Konrad ; Quinodoz, Mathieu ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Roulet-Perez, Eliane ; Santani, Avni ; Santos-Simarro, Fernando ; Pode-Shakked, Ben ; Skraban, Cara ; Slaugh, Rachel ; Superti-Furga, Andrea ; Thiffault, Isabelle ; van Jaabrsveld, Richard H. ; Vincent, Marie ; Wang, Hong-Gang ; Zacher, Pia ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Craigen, William J. ; Dai, Hongzheng ; Dhar, Shweta U. ; Emrick, Lisa T. ; Goldman, Alica M. ; Hanchard, Neil A. ; Jamal, Fariha ; Karaviti, Lefkothea ; Lalani, Seema R. ; Lee, Brendan H. ; Lewis, Richard A. ; Marom, Ronit ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Orengo, James P. ; Posey, Jennifer E. ; Potocki, Lorraine ; Samson, Susan L. ; Scott, Daryl A. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Liu, Pengfei ; Ward, Patricia A. ; Behrens, Edward ; Deardorff, Matthew ; Falk, Marni ; Hassey, Kelly ; Sullivan, Kathleen ; Vanderver, Adeline ; Goldstein, David B. ; Cope, Heidi ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Shashi, Vandana ; Smith, Edward C. ; Sullivan, Jennifer A. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Agrawal, Pankaj B. ; Beggs, Alan H. ; Berry, Gerard T. ; Briere, Lauren C. ; Cobban, Laurel A. ; Coggins, Matthew ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; High, Frances ; Holm, Ingrid A. ; Korrick, Susan ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Pallais, J. Carl ; Rao, Deepak A. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walker, Melissa ; Walsh, Chris A. ; Esteves, Cecilia ; Kelley, Emily G. ; Kohane, Isaac S. ; LeBlanc, Kimberly ; McCray, Alexa T. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Lanza, Ian R. ; Morava, Eva ; Oglesbee, Devin ; Bademci, Guney ; Barbouth, Deborah ; Bivona, Stephanie ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Zuchner, Stephan ; Colley, Heather A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Findley, Laurie C. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mulvihill, John J. ; LaMoure, Grace L. ; Goldrich, Madison P. ; Urv, Tiina K. ; Doss, Argenia L. ; Acosta, Maria T. ; Bonnenmann, Carsten ; D’Souza, Precilla ; Draper, David D. ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Markello, Thomas C. ; Nath, Avi ; Novacic, Donna ; Pusey, Barbara N. ; Toro, Camilo ; Wahl, Colleen E. ; Baker, Eva ; Burke, Elizabeth A. ; Adams, David R. ; Gahl, William A. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Yang, John ; Power, Bradley ; Gochuico, Bernadette ; Huryn, Laryssa ; Latham, Lea ; Davis, Joie ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Ben Solomon ; MacDowall, John ; Thurm, Audrey ; Zein, Wadih ; Yousef, Muhammad ; Adam, Margaret ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Berg-Rood, Beverly ; Blue, Elizabeth ; Boyd, Brenna ; Byers, Peter ; Chanprasert, Sirisak ; Cunningham, Michael ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Glass, Ian ; Golden-Grant, Katie ; Hahn, Sihoun ; Hing, Anne ; Hisama, Fuki M. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Lam, Christina ; Maravilla, Kenneth ; Mefford, Heather ; Merritt, J. Lawrence ; Mirzaa, Ghayda ; Nickerson, Deborah ; Raskind, Wendy ; Rosenwasser, Natalie ; Scott, C. Ron ; Sun, Angela ; Sybert, Virginia ; Wallace, Stephanie ; Wener, Mark ; Wenger, Tara ; Ashley, Euan A. ; Bejerano, Gill ; Bernstein, Jonathan A. ; Bonner, Devon ; Coakley, Terra R. ; Fernandez, Liliana ; Fisher, Paul G. ; Fresard, Laure ; Hom, Jason ; Huang, Yong ; Kohler, Jennefer N. ; Kravets, Elijah ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; Raja, Archana N. ; Reuter, Chloe M. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Smith, Kevin S. ; Sutton, Shirley ; Tabor, Holly K. ; Tucker, Brianna M. ; Wheeler, Matthew T. ; Zastrow, Diane B. ; Zhao, Chunli ; Byrd, William E. ; Crouse, Andrew B. ; Might, Matthew ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Brown, Gabrielle ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Douine, Emilie D. ; Fogel, Brent L. ; Gutierrez, Irma ; Huang, Alden ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Nieves-Rodriguez, Shirley ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Renteria, Genecee ; Signer, Rebecca H. ; Sinsheimer, Janet S. ; Wan, Jijun ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Alvey, Justin ; Andrews, Ashley ; Bale, Jim ; Bohnsack, John ; Botto, Lorenzo ; Carey, John ; Pace, Laura ; Longo, Nicola ; Marth, Gabor ; Moretti, Paolo ; Quinlan, Aaron ; Velinder, Matt ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Westerfield, Monte ; Bican, Anna ; Brokamp, Elly ; Duncan, Laura ; Hamid, Rizwan ; Kennedy, Jennifer ; Kozuira, Mary ; Newman, John H. ; PhillipsIII, John A. ; Rives, Lynette ; Robertson, Amy K. ; Solem, Emily ; Cogan, Joy D. ; Cole, F. Sessions ; Hayes, Nichole ; Kiley, Dana ; Sisco, Kathy ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Pak, Stephen ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Rush, Eric ; Pitt, Geoffrey S. ; Au, Ping Yee Billie
In Genetics in Medicine October 2021 23(10):1922-1932
Academic Journal
Tran, Christel ; Turolla, Licia ; Ballhausen, Diana ; Buros, Sandrine Cornaz ; Teav, Tony ; Gallart-Ayala, Hector ; Ivanisevic, Julijana ; Faouzi, Mohamed ; Lefeber, Dirk J. ; Ivanovski, Ivan ; Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Garavelli, Livia ; Superti-Furga, Andrea
In Molecular Genetics and Metabolism Reports September 2021 28
Academic Journal
Tankeu, Aurel T. ; Van Winckel, Geraldine ; Campos-Xavier, Belinda ; Braissant, Olivier ; Pedro, Rosette ; Superti-Furga, Andrea ; Amati, Francesca ; Tran, Christel
In Molecular Genetics and Metabolism Reports June 2021 27
Academic Journal
Paganini, Chiara ; Gramegna Tota, Chiara ; Monti, Luca ; Monti, Ilaria ; Maurizi, Antonio ; Capulli, Mattia ; Bourmaud, Morgane ; Teti, Anna ; Cohen-Solal, Martine ; Villani, Simona ; Forlino, Antonella ; Superti-Furga, Andrea ; Rossi, Antonio
In Biochemical Pharmacology March 2021 185
Academic Journal
Bürgi, Jérôme ; Abrami, Laurence ; Castanon, Irinka ; Abriata, Luciano Andres ; Kunz, Beatrice ; Yan, Shixu Emili ; Lera, Manuel ; Unger, Sheila ; Superti-Furga, Andrea ; Peraro, Matteo Dal ; Gaitan, Marcos Gonzalez ; van der Goot, Francoise Gisou
In Developmental Cell 18 May 2020 53(4):418-430
Academic Journal
Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D.; Ullah, Ehsan; Signorini, Sabrina G.; des Roziers, Cyril Burin; Grijalva, Rosalie M.; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R.; Dimopoulos, Ioannis; Hufnagel, Robert B.; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E.; Superti-Furga, Andrea
JAMA Ophthalmology; Jan2026, Vol. 144 Issue 1, p70-78, 9p
Academic Journal
Peter, Virginie G. ; Quinodoz, Mathieu ; Pinto-Basto, Jorge ; Sousa, Sergio B. ; Di Gioia, Silvio Alessandro ; Soares, Gabriela ; Ferraz Leal, Gabriela ; Silva, Eduardo D. ; Pescini Gobert, Rosanna ; Miyake, Noriko ; Matsumoto, Naomichi ; Engle, Elizabeth C. ; Unger, Sheila ; Shapiro, Frederic ; Superti-Furga, Andrea ; Rivolta, Carlo ; Campos-Xavier, Belinda
In Genetics in Medicine December 2019 21(12):2734-2743
Academic Journal
Beck, Michael; DiMeglio, Linda; Wuh-Liang Hwu, Paul; Simm, Peter; Simmons, Jill; Steelman, Joel; Steiner, Robert D.; Superti-Furga, Andrea; Whyte, Michael P. ; Leung, Edward ; Wilcox, William R. ; Liese, Johannes ; Argente, Jesús ; Martos-Moreno, Gabriel Á. ; Reeves, Amy ; Fujita, Kenji P. ; Moseley, Scott ; Hofmann, Christine
In The Journal of Pediatrics June 2019 209:116-124
Academic Journal
Luta, Xhyljeta; Zanchi, Fabio; Fresa, Marco; Porccedu, Enrica; Keller, Sanjiv; Bouchardy, Judith; Déglise, Sébastien; Qanadli, Salah Dine; Kirsch, Matthias; Wuerzner, Grégoire; Superti-Furga, Andrea; Buso, Giacomo; Mazzolai, Lucia
Academic Journal
Bacchi, Isabelle; Vandelli, Sara; Coccia, Emanuele; Giannini, Lucrezia; Zuntini, Roberta; Teneggi, Rachele; Caraffi, Stefano Giuseppe; Baroni, Maria Chiara; Contrò, Gianluca; Peruzzi, Adelaide; Ambrosetti, Irene; Pollazzon, Marzia; Sartori, Chiara; Lausch, Ekkehart; Matysiak, Uta; Gambini, Lucia; Gargano, Giancarlo; Orlando, Valeria; Novelli, Antonio; Iughetti, Lorenzo; Unger, Sheila; Superti-Furga, Andrea; Garavelli, Livia
Italian Journal of Pediatrics. December 23, 2025, Vol. 52 Issue 1
Academic Journal
Meester, Josephina A.N. ; Vandeweyer, Geert ; Pintelon, Isabel ; Lammens, Martin ; Van Hoorick, Lana ; De Belder, Simon ; Waitzman, Kathryn ; Young, Luciana ; Markham, Larry W. ; Vogt, Julie ; Richer, Julie ; Beauchesne, Luc M. ; Unger, Sheila ; Superti-Furga, Andrea ; Prsa, Milan ; Dhillon, Rami ; Reyniers, Edwin ; Dietz, Harry C. ; Wuyts, Wim ; Mortier, Geert ; Verstraeten, Aline ; Van Laer, Lut ; Loeys, Bart L.
In Genetics in Medicine April 2017 19(4):386-395
Academic Journal
Wade, Emma M. ; Daniel, Philip B. ; Jenkins, Zandra A. ; McInerney-Leo, Aideen ; Leo, Paul ; Morgan, Tim ; Addor, Marie Claude ; Adès, Lesley C. ; Bertola, Debora ; Bohring, Axel ; Carter, Erin ; Cho, Tae-Joon ; Duba, Hans-Christoph ; Fletcher, Elaine ; Kim, Chong A. ; Krakow, Deborah ; Morava, Eva ; Neuhann, Teresa ; Superti-Furga, Andrea ; Veenstra-Knol, Irma ; Wieczorek, Dagmar ; Wilson, Louise C. ; Hennekam, Raoul C.M. ; Sutherland-Smith, Andrew J. ; Strom, Tim M. ; Wilkie, Andrew O.M. ; Brown, Matthew A. ; Duncan, Emma L. ; Markie, David M. ; Robertson, Stephen P.
In The American Journal of Human Genetics 4 August 2016 99(2):392-406
Academic Journal
Blasi, Immacolata; Pollazzon, Marzia; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Comitini, Giuseppina; Bonasoni, Maria Paola; Daolio, Jessica; Unger, Sheila; Aguzzoli, Lorenzo; Superti‐Furga, Andrea; Garavelli, Livia
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