학술논문
'학술논문'
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1~10
Academic Journal
Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian GEL; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, PY Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Ghayoor Karimiani, Ehsan; Mojarrad, Majid; Arab, Fatemeh; Duymuş, Fahrettin; Scantlebury, Morris H; Yeşil, Gözde; Rosenfeld, Jill Anne; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza
Academic Journal
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Åse K.; Caiella, Alessia; Glomnes, Nina; Brønstad, Kirsten M.; Tury, Sandrine; Moreno De Luca, Andrés; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; İpek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da’as, Sahar I.; Fakhro, Khalid A.; Gómez-Pascual, Alicia; Botía, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gaël; Arnesen, Thomas; Houlden, Henry
Nature Communications. 15(1)
Academic Journal
Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Jamra, Rami Abou; Nieto, Marta; Tümer, Zeynep; Platzer, Konrad
European Journal of Human Genetics. 31(11):1251-1260
Academic Journal
Viorica Chelban; Henriette Aksnes; Reza Maroofian; Lauren C. LaMonica; Luis Seabra; Anette Siggervåg; Perrine Devic; Hanan E. Shamseldin; Jana Vandrovcova; David Murphy; Anne-Claire Richard; Olivier Quenez; Antoine Bonnevalle; M. Natalia Zanetti; Rauan Kaiyrzhanov; Vincenzo Salpietro; Stephanie Efthymiou; Lucia V. Schottlaender; Heba Morsy; Annarita Scardamaglia; Ambreen Tariq; Alistair T. Pagnamenta; Ajia Pennavaria; Liv S. Krogstad; Åse K. Bekkelund; Alessia Caiella; Nina Glomnes; Kirsten M. Brønstad; Sandrine Tury; Andrés Moreno De Luca; Anne Boland-Auge; Robert Olaso; Jean-François Deleuze; Mathieu Anheim; Benjamin Cretin; Barbara Vona; Fahad Alajlan; Firdous Abdulwahab; Jean-Luc Battini; Rojan İpek; Peter Bauer; Giovanni Zifarelli; Serdal Gungor; Semra Hiz Kurul; Hanns Lochmuller; Sahar I. Da’as; Khalid A. Fakhro; Alicia Gómez-Pascual; Juan A. Botía; Nicholas W. Wood; Rita Horvath; Andreas M. Ernst; James E. Rothman; Meriel McEntagart; Yanick J. Crow; Fowzan S. Alkuraya; Gaël Nicolas; SYNaPS Study Group; Thomas Arnesen; Henry Houlden
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Maroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Vahidi Mehrjardi, Mohammad Yahya; Haerian, Alireza; Soltanianzadeh, Mojtaba; Noori Kooshki, Mohammad Hadi; Knight, Samantha J.L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uirá Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R.F.; Taylor, Jenny C.; Wilkie, Andrew O.M.; Calpena, Eduardo
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Academic Journal
Pagnamenta, Alistair T.; Yu, Jing; Walker, Susan; Noble, Alexandra J.; Lord, Jenny; Dutta, Prasun; Hashim, Mona; Camps, Carme; Green, Hannah; Devaiah, Smrithi; Nashef, Lina; Parr, Jason; Fratter, Carl; Ibnouf Hussein, Rana; Lindsay, Sarah J.; Lalloo, Fiona; Banos-Pinero, Benito; Evans, David; Mallin, Lucy; Waite, Adrian; Evans, Julie; Newman, Andrew; Allen, Zoe; Perez-Becerril, Cristina; Ryan, Gavin; Hart, Rachel; Taylor, John; Bedenham, Tina; Clement, Emma; Blair, Ed; Hay, Eleanor; Forzano, Francesca; Higgs, Jenny; Canham, Natalie; Majumdar, Anirban; McEntagart, Meriel; Lahiri, Nayana; Stewart, Helen; Smithson, Sarah; Calpena, Eduardo; Jackson, Adam; Banka, Siddharth; Titheradge, Hannah; McGowan, Ruth; Rankin, Julia; Shaw-Smith, Charles; Evans, D. Gareth; Burghel, George J.; Smith, Miriam J.; Anderson, Emily; Madhu, Rajesh; Firth, Helen; Ellard, Sian; Brennan, Paul; Anderson, Claire; Taupin, Doug; Rogers, Mark T.; Cook, Jackie A.; Durkie, Miranda; East, James E.; Fowler, Darren; Wilson, Louise; Igbokwe, Rebecca; Gardham, Alice; Tomlinson, Ian; Baralle, Diana; Uhlig, Holm H.; Taylor, Jenny C.
In The American Journal of Human Genetics 6 June 2024 111(6):1140-1164
Academic Journal
Alistair T. Pagnamenta; Carme Camps; Edoardo Giacopuzzi; John M. Taylor; Mona Hashim; Eduardo Calpena; Pamela J. Kaisaki; Akiko Hashimoto; Jing Yu; Edward Sanders; Ron Schwessinger; Jim R. Hughes; Gerton Lunter; Helene Dreau; Matteo Ferla; Lukas Lange; Yesim Kesim; Vassilis Ragoussis; Dimitrios V. Vavoulis; Holger Allroggen; Olaf Ansorge; Christian Babbs; Siddharth Banka; Benito Baños-Piñero; David Beeson; Tal Ben-Ami; David L. Bennett; Celeste Bento; Edward Blair; Charlotte Brasch-Andersen; Katherine R. Bull; Holger Cario; Deirdre Cilliers; Valerio Conti; E. Graham Davies; Fatima Dhalla; Beatriz Diez Dacal; Yin Dong; James E. Dunford; Renzo Guerrini; Adrian L. Harris; Jane Hartley; Georg Hollander; Kassim Javaid; Maureen Kane; Deirdre Kelly; Dominic Kelly; Samantha J. L. Knight; Alexandra Y. Kreins; Erika M. Kvikstad; Craig B. Langman; Tracy Lester; Kate E. Lines; Simon R. Lord; Xin Lu; Sahar Mansour; Adnan Manzur; Reza Maroofian; Brian Marsden; Joanne Mason; Simon J. McGowan; Davide Mei; Hana Mlcochova; Yoshiko Murakami; Andrea H. Németh; Steven Okoli; Elizabeth Ormondroyd; Lilian Bomme Ousager; Jacqueline Palace; Smita Y. Patel; Melissa M. Pentony; Chris Pugh; Aboulfazl Rad; Archana Ramesh; Simone G. Riva; Irene Roberts; Noémi Roy; Outi Salminen; Kyleen D. Schilling; Caroline Scott; Arjune Sen; Conrad Smith; Mark Stevenson; Rajesh V. Thakker; Stephen R. F. Twigg; Holm H. Uhlig; Richard van Wijk; Barbara Vona; Steven Wall; Jing Wang; Hugh Watkins; Jaroslav Zak; Anna H. Schuh; Usha Kini; Andrew O. M. Wilkie; Niko Popitsch; Jenny C. Taylor
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Academic Journal
Stephanie Efthymiou; Luiz E. Novis; Georgios Koutsis; Chrysoula Koniari; Reza Maroofian; Valentina Turchetti; Georgios Velonakis; Luiz F. Vasconcellos; Salmo Raskin; Varunvenkat M. Srinivasan; Alistair T. Pagnamenta; Yaramanchanahalli B. Arun; Uddhava V. Kinhal; Vykuntaraju K. Gowda; Helio A. G. Teive; Henry Houlden
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Guillen Sacoto, Maria J.; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S.A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Pagnamenta, Alistair T.; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P.; Toosi, Mehran B.; Calder, Alistair D.; Karimiani, Ehsan G.; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina, 1969; Lester, Tracy; Maroofian, Reza; Heath, Karen E.; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C.
Journal of Medical Genetics. 59(10):947-950
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