학술논문
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Academic Journal
Mitani, Tadahiro; Isikay, Sedat; Gezdirici, Alper; Gulec, Elif Yilmaz; Punetha, Jaya; Fatih, Jawid M.; Herman, Isabella; Akay, Gulsen; Du, Haowei; Calame, Daniel G.; Ayaz, Akif; Tos, Tulay; Yesil, Gozde; Aydin, Hatip; Geckinli, Bilgen; Elcioglu, Nursel; Candan, Sukru; Sezer, Ozlem; Erdem, Haktan Bagis; Gul, Davut; Demiral, Emine; Elmas, Muhsin; Yesilbas, Osman; Kilic, Betul; Gungor, Serdal; Ceylan, Ahmet C.; Bozdogan, Sevcan; Ozalp, Ozge; Cicek, Salih; Aslan, Huseyin; Yalcintepe, Sinem; Topcu, Vehap; Bayram, Yavuz; Grochowski, Christopher M.; Jolly, Angad; Dawood, Moez; Duan, Ruizhi; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Marafi, Dana; Akdemir, Zeynep Coban; Karaca, Ender; Carvalho, Claudia M.B.; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Pehlivan, Davut
In The American Journal of Human Genetics August 2021
Academic Journal
Bhola, Priya T.; Mishra, Radha; Posey, Jennifer E.; Hamilton, Leslie E.; Graham, Gail E.; Punetha, Jaya; Lupski, James R.; Boycott, Kym M.; D'Amours, Damien; Kernohan, Kristin D.
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-8, 8p
Academic Journal
Dawood, Moez; Akay, Gulsen; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Gezdirici, Alper; Najmabadi, Hossein; Kahrizi, Kimia; Punetha, Jaya; Grochowski, Christopher M.; Du, Haowei; Jolly, Angad; Li, He; Coban‐Akdemir, Zeynep; Sedlazeck, Fritz J.; Hunter, Jill V.; Jhangiani, Shalini N.; Muzny, Donna; Pehlivan, Davut; Posey, Jennifer E.
American Journal of Medical Genetics. Part A; Mar2023, Vol. 191 Issue 3, p794-804, 11p
Academic Journal
Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie MHF; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; CAUSES Study; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie
American journal of human genetics. 104(3)
Academic Journal
Bhola, Priya T.; Mishra, Radha; Posey, Jennifer E.; Hamilton, Leslie E.; Graham, Gail E.; Punetha, Jaya; Lupski, James R.; Boycott, Kym M.; D'Amours, Damien; Kernohan, Kristin D.; Care4Rare Canada Consortium
Academic Journal
Bello, Luca; Flanigan, Kevin; Weiss, Robert; Spitali, Pietro; Aartsma-Rus, Annemieke; Muntoni, Francesco; Zaharieva, Irina; Ferlini, Alessandra; Mercuri, Eugenio; Tuffery-Giraud, Sylvie; Claustres, Mireille; Straub, Volker; Lochmüller, Hanns; Barp, Andrea; Vianello, Sara; Pegoraro, Elena; Punetha, Jaya; Gordish-Dressman, Heather; Giri, Mamta; Hoffman, Eric; McDonald, Craig
American Journal of Human Genetics. 99(5)
Academic Journal
Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane‐Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos‐Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denommé‐Pichon, Anne‐Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fiévet, Alice
Human Mutation; Feb2022, Vol. 43 Issue 2, p266-282, 17p
Academic Journal
Bello, Luca; Kesari, Akanchha; Gordish‐Dressman, Heather; Cnaan, Avital; Morgenroth, Lauren P; Punetha, Jaya; Duong, Tina; Henricson, Erik K; Pegoraro, Elena; McDonald, Craig M; Hoffman, Eric P; Investigators, on behalf of the Cooperative International Neuromuscular Research Group
Annals of Neurology. 77(4)
Academic Journal
O'Grady, Gina L; Best, Heather A; Oates, Emily C; Kaur, Simranpreet; Charlton, Amanda; Brammah, Susan; Punetha, Jaya; Kesari, Akanchha; North, Kathryn N; Ilkovski, Biljana; Hoffman, Eric P; Clarke, Nigel F
Academic Journal
Clarke, Nigel F.; Amburgey, Kimberly; Teener, James; Camelo-Piragua, Sandra; Kesari, Akanchha; Punetha, Jaya; Waddell, Leigh B.; Davis, Mark; Laing, Nigel G.; Monnier, Nicole; North, Kathryn N.; Hoffman, Eric P.; Dowling, James J.
In Neuromuscular Disorders May 2013 23(5):432-436
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