학술논문
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'학술논문'
에서 검색결과 280건 | 목록
1~20
Academic Journal
de Villiers, Carin ; Ormondroyd, Elizabeth ; Thomson, Kate ; Ormerod, Julian O.M. ; Sarwar, Rizwan ; Waring, Adam ; Bagnall, Richard D. ; Sparrow, Alexander ; Steeples, Violetta ; Blair, Edward ; Buchan, Rachel J. ; Bueno-Orovio, Alfonso ; Dent, Timothy ; Farrall, Martin ; Harper, Andrew R. ; Hastings, Robert ; Jones, Samuel ; Krishnan, Neesha ; Lise, Stefano ; Pagnamenta, Alistair T. ; Salatino, Silvia ; Seed, Lydia ; Taylor, Jenny C. ; Weintraub, Robert G. ; West, Dominique ; Ware, James S. ; Ingles, Jodie ; Semsarian, Christopher ; Watkins, Hugh
In Heart Rhythm
Academic Journal
Walker, Susan ; Bunyan, David J. ; Thomas, Huw B. ; Kesim, Yesim ; Kershaw, Christopher J. ; Holloway, John ; Wai, Htoo ; Day, Michael ; Smith, Cassandra L. ; Hawkes, Gareth ; Wood, Andrew R. ; Weedon, Michael N. ; Blair, Ed ; Curtis, Stephanie L. ; Fielden, Catherine ; Evans, Julie ; Whittington, Rebecca ; Smithson, Sarah F. ; Cox, Helen ; Clift, Paul ; McEntagart, Meriel ; Prapa, Matina ; Alsters, Suzanne ; Morris-Rosendahl, Deborah ; Dean, John ; Morrison, Patrick J. ; Dixit, Abhijit ; Sarkar, Ajoy ; Prescott, Katrina ; Amel Riazat Kesh, Leila ; Tharakan, Riya ; Turner, Claire ; Ellard, Sian ; Shaw-Smith, Charles ; Fasham, James ; Clowes, Virginia ; Holden, Simon ; Somarathi, Suresh ; Mercer, Catherine ; Berry, Ian ; O’Keefe, Raymond T. ; Banka, Siddharth ; Baralle, Diana ; Thomas, N. Simon ; Baple, Emma L. ; Taylor, Jenny C. ; Pagnamenta, Alistair T.
In Genetics in Medicine September 2025 27(9)
Academic Journal
Buchert, Rebecca ; Burkhalter, Martin D. ; Huridou, Chrisovalantou ; Sofan, Linda ; Roser, Timo ; Cremer, Kirsten ; Alvi, Javeria Raza ; Efthymiou, Stephanie ; Froukh, Tawfiq ; Gulieva, Sughra ; Guliyeva, Ulviyya ; Hamdallah, Moath ; Holder-Espinasse, Muriel ; Kaiyrzhanov, Rauan ; Klingler, Doreen ; Koko, Mahmoud ; Matthies, Lars ; Park, Joohyun ; Sturm, Marc ; Velic, Ana ; Spranger, Stephanie ; Sultan, Tipu ; Engels, Hartmut ; Lerche, Holger ; Houlden, Henry ; Pagnamenta, Alistair T. ; Borggraefe, Ingo ; Weber, Yvonne ; Bonnen, Penelope E. ; Maroofian, Reza ; Riess, Olaf ; Weber, Jonasz J. ; Philipp, Melanie ; Haack, Tobias B.
In The American Journal of Human Genetics 6 February 2025 112(2):374-393
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
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
Academic Journal
Cali, Elisa ; Quirin, Tania ; Rocca, Clarissa ; Efthymiou, Stephanie ; Riva, Antonella ; Marafi, Dana ; Zaki, Maha S. ; Suri, Mohnish ; Dominguez, Roberto ; Elbendary, Hasnaa M. ; Alavi, Shahryar ; Abdel-Hamid, Mohamed S. ; Morsy, Heba ; Mau-Them, Frederic Tran ; Nizon, Mathilde ; Tesner, Pavel ; Ryba, Lukáš ; Zafar, Faisal ; Rana, Nuzhat ; Saadi, Nebal W. ; Firoozfar, Zahra ; Gencpinar, Pinar ; Unay, Bulent ; Ustun, Canan ; Bruel, Ange-Line ; Coubes, Christine ; Stefanich, Jennifer ; Sezer, Ozlem ; Agolini, Emanuele ; Novelli, Antonio ; Vasco, Gessica ; Lettori, Donatella ; Milh, Mathieu ; Villard, Laurent ; Zeidler, Shimriet ; Opperman, Henry ; Strehlow, Vincent ; Issa, Mahmoud Y. ; El Khassab, Hebatallah ; Chand, Prem ; Ibrahim, Shahnaz ; Nejad-Rashidi, Ali ; Miryounesi, Mohammad ; Larki, Pegah ; Morrison, Jennifer ; Cristian, Ingrid ; Thiffault, Isabelle ; Bertsch, Nicole L. ; Noh, Grace J. ; Pappas, John ; Moran, Ellen ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne ; Hosseini, Susan ; Abbaszadegan, Mohammad Reza ; Caumes, Roseline ; Vissers, Lisenka E.L.M. ; Neshatdoust, Maedeh ; Montazer, Mostafa Zohour ; El Fahime, Elmostafa ; Canavati, Christin ; Kamal, Lara ; Kanaan, Moien ; Askander, Omar ; Voinova, Victoria ; Levchenko, Olga ; Haider, Shahzhad ; Halbach, Sara S. ; Maia, Elias Rayana ; Mansoor, Salehi ; Vivek, Jain ; Tawde, Sanjukta ; Challa, Viveka Santhosh R. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Victor, Lucas Alves ; Pinero-Banos, Benito ; Hague, Jennifer ; Ei-Awady, Heba Ahmed ; Maria de Miranda Henriques-Souza, Adelia ; Cheema, Huma Arshad ; Anjum, Muhammad Nadeem ; Idkaidak, Sara ; Alqarajeh, Firas ; Atawneh, Osama ; Mor-Shaked, Hagar ; Harel, Tamar ; Zifarelli, Giovanni ; Bauer, Peter ; Kok, Fernando ; Kitajima, Joao Paulo ; Monteiro, Fabiola ; Josahkian, Juliana ; Lesca, Gaetan ; Chatron, Nicolas ; Ville, Dorothe ; Murphy, David ; Neul, Jeffrey L. ; Mullegama, Sureni V. ; Begtrup, Amber ; Herman, Isabella ; Mitani, Tadahiro ; Posey, Jennifer E. ; Tay, Chee Geap ; Javed, Iram ; Carr, Lucinda ; Kanani, Farah ; Beecroft, Fiona ; Hane, Lee ; Abdelkreem, Elsayed ; Macek, Milan ; Bispo, Luciana ; Elmaksoud, Marwa Abd ; Hashemi-Gorji, Farzad ; Pehlivan, Davut ; Amor, David J. ; Jamra, Rami Abou ; Chung, Wendy K. ; Ghayoor, Eshan Karimiani ; Campeau, Philippe ; Alkuraya, Fowzan S. ; Pagnamenta, Alistair T. ; Gleeson, Joseph ; Lupski, James R. ; Striano, Pasquale ; Moreno-De-Luca, Andres ; Lafontaine, Denis L.J. ; Houlden, Henry ; Maroofian, Reza
In Genetics in Medicine September 2024
Academic Journal
Saida, Ken ; Maroofian, Reza ; Sengoku, Toru ; Mitani, Tadahiro ; Pagnamenta, Alistair T. ; Marafi, Dana ; Zaki, Maha S. ; O’Brien, Thomas J. ; Karimiani, Ehsan Ghayoor ; Kaiyrzhanov, Rauan ; Takizawa, Marina ; Ohori, Sachiko ; Leong, Huey Yin ; Akay, Gulsen ; Galehdari, Hamid ; Zamani, Mina ; Romy, Ratna ; Carroll, Christopher J. ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Malek, Hadis ; Ahangari, Najmeh ; Tomoum, Hoda ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Murphy, David ; Dominik, Natalia ; Elbendary, Hasnaa M. ; Rafat, Karima ; Yilmaz, Sanem ; Kanmaz, Seda ; Serin, Mine ; Krishnakumar, Deepa ; Gardham, Alice ; Maw, Anna ; Rao, Tekki Sreenivasa ; Alsubhi, Sarah ; Srour, Myriam ; Buhas, Daniela ; Jewett, Tamison ; Goldberg, Rachel E. ; Shamseldin, Hanan ; Frengen, Eirik ; Misceo, Doriana ; Strømme, Petter ; Magliocco Ceroni, José Ricardo ; Kim, Chong Ae ; Yesil, Gozde ; Sengenc, Esma ; Guler, Serhat ; Hull, Mariam ; Parnes, Mered ; Aktas, Dilek ; Anlar, Banu ; Bayram, Yavuz ; Pehlivan, Davut ; Posey, Jennifer E. ; Alavi, Shahryar ; Madani Manshadi, Seyed Ali ; Alzaidan, Hamad ; Al-Owain, Mohammad ; Alabdi, Lama ; Abdulwahab, Ferdous ; Sekiguchi, Futoshi ; Hamanaka, Kohei ; Fujita, Atsushi ; Uchiyama, Yuri ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Miyake, Noriko ; Elshafie, Reem M. ; Salayev, Kamran ; Guliyeva, Ulviyya ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Monaghan, Kristin G. ; Langley, Katherine G. ; Yang, Hui ; Motavaf, Mahsa ; Safari, Saeid ; Alipour, Mozhgan ; Ogata, Kazuhiro ; Brown, André E.X. ; Lupski, James R. ; Houlden, Henry ; Matsumoto, Naomichi
In Genetics in Medicine January 2023 25(1):90-102
Academic Journal
Loong, Lucy ; Tardivo, Agostina ; Knaus, Alexej ; Hashim, Mona ; Pagnamenta, Alistair T. ; Alt, Kerstin ; Böhrer-Rabel, Helena ; Caro-Llopis, Alfonso ; Cole, Trevor ; Distelmaier, Felix ; Edery, Patrick ; Ferreira, Carlos R. ; Jezela-Stanek, Aleksandra ; Kerr, Bronwyn ; Kluger, Gerhard ; Krawitz, Peter M. ; Kuhn, Marius ; Lemke, Johannes R. ; Lesca, Gaetan ; Lynch, Sally Ann ; Martinez, Francisco ; Maxton, Caroline ; Mierzewska, Hanna ; Monfort, Sandra ; Nicolai, Joost ; Orellana, Carmen ; Pal, Deb K. ; Płoski, Rafał ; Quarrell, Oliver W. ; Rosello, Monica ; Rydzanicz, Małgorzata ; Sabir, Ataf ; Śmigiel, Robert ; Stegmann, Alexander P.A. ; Stewart, Helen ; Stumpel, Constance ; Szczepanik, Elżbieta ; Tzschach, Andreas ; Wolfe, Lynne ; Taylor, Jenny C. ; Murakami, Yoshiko ; Kinoshita, Taroh ; Bayat, Allan ; Kini, Usha
In Genetics in Medicine January 2023 25(1):37-48
Academic Journal
Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur ; Riccardi, Florence ; Field, Michael ; Banka, Siddharth ; Bubshait, Dalal K. ; Li, Yun ; Hertecant, Jozef ; Baig, Shahid Mahmood ; Dyment, David ; Efthymiou, Stephanie ; Abdullah, Uzma ; Makhdoom, Ehtisham Ul Haq ; Ali, Zafar ; Scherf de Almeida, Tobias ; Molinari, Florence ; Mignon-Ravix, Cécile ; Chabrol, Brigitte ; Antony, Jayne ; Ades, Lesley ; Pagnamenta, Alistair T. ; Jackson, Adam ; Douzgou, Sofia ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O’Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Beetz, Christian ; Karageorgou, Vasiliki ; Vona, Barbara ; Rad, Aboulfazl ; Baig, Jamshaid Mahmood ; Sultan, Tipu ; Alvi, Javeria Raza ; Maqbool, Shazia ; Rahman, Fatima ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Sarwar, Yasra ; Khan, Sheraz ; Jameel, Muhammad ; Noegel, Angelika A. ; Budde, Birgit ; Altmüller, Janine ; Motameny, Susanne ; Höhne, Wolfgang ; Houlden, Henry ; Nürnberg, Peter ; Wollnik, Bernd ; Villard, Laurent ; Alkuraya, Fowzan Sami ; Osmond, Matthew ; Hussain, Muhammad Sajid ; Yigit, Gökhan
In Genetics in Medicine November 2021 23(11):2138-2149
Academic Journal
Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G. ; Kaiyrzhanov, Rauan ; Maroofian, Reza ; Petree, Cassidy ; Severino, Mariasavina ; Stanley, Valentina ; Varshney, Pratishtha ; Bahena, Paulina ; Alzahrani, Fatema ; Alhashem, Amal ; Pagnamenta, Alistair T. ; Aubertin, Gudrun ; Estrada-Veras, Juvianee I. ; Hernández, Héctor Adrián Díaz ; Mazaheri, Neda ; Oza, Andrea ; Thies, Jenny ; Renaud, Deborah L. ; Dugad, Sanmati ; McEvoy, Jennifer ; Sultan, Tipu ; Pais, Lynn S. ; Tabarki, Brahim ; Villalobos-Ramirez, Daniel ; Rad, Aboulfazl ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Galehdari, Hamid ; Ashrafzadeh, Farah ; Sahebzamani, Afsaneh ; Saeidi, Kolsoum ; Torti, Erin ; Elloumi, Houda Z. ; Mora, Sara ; Palculict, Timothy B. ; Yang, Hui ; Wren, Jonathan D. ; Ben Fowler ; Joshi, Manali ; Behra, Martine ; Burgess, Shawn M. ; Nath, Swapan K. ; Hanna, Michael G. ; Kenna, Margaret ; Merritt, J. Lawrence, II ; Houlden, Henry ; Karimiani, Ehsan Ghayoor ; Zaki, Maha S. ; Haaf, Thomas ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Varshney, Gaurav K.
In Genetics in Medicine October 2021 23(10):1933-1943
Academic Journal
Hengel, Holger ; Hannan, Shabab B. ; Dyack, Sarah ; MacKay, Sara B. ; Schatz, Ulrich ; Fleger, Martin ; Kurringer, Andreas ; Balousha, Ghassan ; Ghanim, Zaid ; Alkuraya, Fowzan S. ; Alzaidan, Hamad ; Alsaif, Hessa S. ; Mitani, Tadahiro ; Bozdogan, Sevcan ; Pehlivan, Davut ; Lupski, James R. ; Gleeson, Joseph J. ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Y.V. ; Sherr, Elliott H. ; Parks, Kendall C. ; Argilli, Emanuela ; Begtrup, Amber ; Galehdari, Hamid ; Balousha, Osama ; Shariati, Gholamreza ; Mazaheri, Neda ; Malamiri, Reza A. ; Pagnamenta, Alistair T. ; Kingston, Helen ; Banka, Siddharth ; Jackson, Adam ; Osmond, Mathew ; Rieß, Angelika ; Haack, Tobias B. ; Nägele, Thomas ; Schuster, Stefanie ; Hauser, Stefan ; Admard, Jakob ; Casadei, Nicolas ; Velic, Ana ; Macek, Boris ; Ossowski, Stephan ; Houlden, Henry ; Maroofian, Reza ; Schöls, Ludger
In The American Journal of Human Genetics 3 June 2021 108(6):1069-1082
Academic Journal
Fasham, James ; Rankin, Julia ; Schot, Rachel ; White, Susan M. ; Bell, Katrina M. ; Wakeling, Matthew N. ; Mallin, Lucy J. ; Shah, Alex ; de Silva, Michelle G. ; Francis, David I. ; Walsh, Maie ; Jones, Emily E. ; Vijayakumar, Kayal ; Johnson, Katie ; Sansbury, Francis H. ; te Water Naudé, Johann ; Giunti, Paola ; Hadjivassiliou, Marios ; Nemeth, Andrea H. ; Tofaris, George K. ; Rinaldi, Carlo ; Banos-Pinero, Benito ; Selikhva, Marianna ; Ubeyratna, Nishanka ; Kievit, Anneke ; Sleutels, Frank ; van Giessen, Joey ; Barakat, Tahsin Stefan ; Hall, Timothy S. ; Whone, Alan ; Thomas, Eleanor ; Leslie, Joseph S. ; Bamford, Rosemary A. ; Jeffries, Aaron R. ; Lord, Jenny ; Walker, Susan ; van Ham, Tjakko J. ; Hill, Sue L. ; McGavin, Lucy ; Parrish, Andrew ; Crosby, Andrew H. ; Baple, Emma L. ; Pagnamenta, Alistair T.
In The American Journal of Human Genetics 8 January 2026 113(1):221-233
Academic Journal
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
Academic Journal
Rodríguez Cruz, Pedro M. ; Hughes, Imelda ; Manzur, Adnan ; Munot, Pinki ; Ramdas, Sithara ; Wright, Ronnie ; Breen, Catherine ; Pitt, Mathew ; Pagnamenta, Alistair T. ; Taylor, Jenny C. ; Palace, Jacqueline ; Beeson, David
In Neuromuscular Disorders January 2021 31(1):21-28
Academic Journal
Schwarze, Katharina ; Buchanan, James ; Fermont, Jilles M. ; Dreau, Helene ; Tilley, Mark W. ; Taylor, John M. ; Antoniou, Pavlos ; Knight, Samantha J.L. ; Camps, Carme ; Pentony, Melissa M. ; Kvikstad, Erika M. ; Harris, Steve ; Popitsch, Niko ; Pagnamenta, Alistair T. ; Schuh, Anna ; Taylor, Jenny C. ; Wordsworth, Sarah
In Genetics in Medicine January 2020 22(1):85-94
Academic Journal
Haijes, Hanneke A. ; Koster, Maria J.E. ; Rehmann, Holger ; Li, Dong ; Hakonarson, Hakon ; Cappuccio, Gerarda ; Hancarova, Miroslava ; Lehalle, Daphne ; Reardon, Willie ; Schaefer, G. Bradley ; Lehman, Anna ; van de Laar, Ingrid M.B.H. ; Tesselaar, Coranne D. ; Turner, Clesson ; Goldenberg, Alice ; Patrier, Sophie ; Thevenon, Julien ; Pinelli, Michele ; Brunetti-Pierri, Nicola ; Prchalová, Darina ; Havlovicová, Markéta ; Vlckova, Markéta ; Sedláček, Zdeněk ; Lopez, Elena ; Ragoussis, Vassilis ; Pagnamenta, Alistair T. ; Kini, Usha ; Vos, Harmjan R. ; van Es, Robert M. ; van Schaik, Richard F.M.A. ; van Essen, Ton A.J. ; Kibaek, Maria ; Taylor, Jenny C. ; Sullivan, Jennifer ; Shashi, Vandana ; Petrovski, Slave ; Fagerberg, Christina ; Martin, Donna M. ; van Gassen, Koen L.I. ; Pfundt, Rolph ; Falk, Marni J. ; McCormick, Elizabeth M. ; Timmers, H.T. Marc ; van Hasselt, Peter M.
In The American Journal of Human Genetics 1 August 2019 105(2):283-301
Academic Journal
Tripathy, Ratna ; Leca, Ines ; van Dijk, Tessa ; Weiss, Janneke ; van Bon, Bregje W. ; Sergaki, Maria Christina ; Gstrein, Thomas ; Breuss, Martin ; Tian, Guoling ; Bahi-Buisson, Nadia ; Paciorkowski, Alexander R. ; Pagnamenta, Alistair T. ; Wenninger-Weinzierl, Andrea ; Martinez-Reza, Maria Fernanda ; Landler, Lukas ; Lise, Stefano ; Taylor, Jenny C. ; Terrone, Gaetano ; Vitiello, Giuseppina ; Del Giudice, Ennio ; Brunetti-Pierri, Nicola ; D’Amico, Alessandra ; Reymond, Alexandre ; Voisin, Norine ; Bernstein, Jonathan A. ; Farrelly, Ellyn ; Kini, Usha ; Leonard, Thomas A. ; Valence, Stéphanie ; Burglen, Lydie ; Armstrong, Linlea ; Hiatt, Susan M. ; Cooper, Gregory M. ; Aldinger, Kimberly A. ; Dobyns, William B. ; Mirzaa, Ghayda ; Pierson, Tyler Mark ; Baas, Frank ; Chelly, Jamel ; Cowan, Nicholas J. ; Keays, David Anthony
In Neuron 19 December 2018 100(6):1354-1368
Academic Journal
Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A. ; Pagnamenta, Alistair T. ; Alswaid, Abdulrahman ; Baker, Eva H. ; Blair, Edward ; Borck, Guntram ; Brinkmann, Julia ; Craigen, William ; Dung, Vu Chi ; Emrick, Lisa ; Everman, David B. ; van Gassen, Koen L. ; Gulsuner, Suleyman ; Harr, Margaret H. ; Jain, Mahim ; Kuechler, Alma ; Leppig, Kathleen A. ; McDonald-McGinn, Donna M. ; Can, Ngoc Thi Bich ; Peleg, Amir ; Roeder, Elizabeth R. ; Rogers, R.Curtis ; Sagi-Dain, Lena ; Sapp, Julie C. ; Schäffer, Alejandro A. ; Schanze, Denny ; Stewart, Helen ; Taylor, Jenny C. ; Verbeek, Nienke E. ; Walkiewicz, Magdalena A. ; Zackai, Elaine H. ; Zweier, Christiane ; Zenker, Martin ; Lee, Brendan ; Biesecker, Leslie G.
In Genetics in Medicine October 2018 20(10):1175-1185
Academic Journal
Watts, Laura M.; Kinning, Esther; Latner, Donald R.; Johnston, Marla; Patrick‐Esteve, Jessica; Cooper, Gregory M.; Twigg, Stephen R. F.; Pagnamenta, Alistair T.; Taylor, Jenny C.
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