학술논문
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'학술논문'
에서 검색결과 726건 | 목록
1~20
Academic Journal
Dardas, Zain; Harrold, Laura; Calame, Daniel G.; Salter, Claire G.; Kikuma, Takashi; Guay, Kevin P.; Ng, Bobby G.; Sano, Kanae; Saad, Ahmad K.; Du, Haowei; Sangermano, Riccardo; Patankar, Sohil G.; Jhangiani, Shalini N.; Gursoy, Semra; Abdel-Hamid, Mohamed S.; Ahmed, Mahmoud K.H.; Maroofian, Reza; Kaiyrzhanov, Rauan; Salayev, Kamran; Jones, Wendy D.; Caballero, Ana Perez; McGavin, Lucy; Spiller, Michael; Durkie, Miranda; Wood, Nick; O'Grady, Lauren; Goldenberg, Paula; Neumeyer, Ann M.; Begtrup, Amber; Abdel-Ghafar, Sherif F.; Zaki, Maha S.; Van Esch, Hilde; Posey, Jennifer E.; Wenger, Olivia K.; Scott, Ethan M.; Bujakowska, Kinga M.; Gibbs, Richard A.; Pehlivan, Davut; Marafi, Dana; Leslie, Joseph S.; Ubeyratna, Nishanka; Day, Jacob; Owens, Martina; Settle, Jessica; Balkhy, Soher; Tamim, Abdullah; Alabdi, Lama; Alkuraya, Fowzan S.; Takeda, Yoichi; Freeze, Hudson H.; Hebert, Daniel N.; Lupski, James R.; Crosby, Andrew H.; Baple, Emma L.
Am J Hum Genet
Academic Journal
Haowei Du; Ming Yin Lun; Lidiia Gagarina; Jesse D. Bengtsson; Christopher M. Grochowski; Michele G. Mehaffey; James Paul Hwang; Shalini N. Jhangiani; Sravya V. Bhamidipati; Donna M. Muzny; M. Cecilia Poli; Sebastian Ochoa; Ivan K. Chinn; Anna Lindstrand; Jennifer E. Posey; Richard A. Gibbs; Pengfei Liu; James R. Lupski; Claudia M. B. Carvalho
Genome Medicine, Vol 18, Iss 1, Pp 1-15 (2025)
Academic Journal
McDaniel, Jennifer H.; Patel, Vaidehi; Olson, Nathan D.; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D.; Gooden, Alexander A.; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J.; Doddapaneni, Harsha; Jhangiani, Shalini N.; Muzny, Donna M.; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F.; Hastie, Alex R.; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R.; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B.; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M.; McLaughlin, Ian J.; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H.; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L.; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G.; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E.; Bhakta, Mital S.; Sanborn, J. Zachary; Munding, Elizabeth M.; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S.; Zook, Justin M.
Scientific Data. 12(1)
Academic Journal
McDaniel, Jennifer H.; Patel, Vaidehi; Olson, Nathan D.; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D.; Gooden, Alexander A.; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J.; Doddapaneni, Harsha; Jhangiani, Shalini N.; Muzny, Donna M.; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F.; Hastie, Alex R.; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R.; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B.; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M.; McLaughlin, Ian J.; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H.; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L.; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G.; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E.; Bhakta, Mital S.; Sanborn, J. Zachary; Munding, Elizabeth M.; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S.; Zook, Justin M.
Scientific Data. 12(1)
Academic Journal
Levine, Jesse M. ; Calame, Daniel G. ; Sangermano, Riccardo ; Du, Haowei ; Saad, Ahmed ; Lisfeld, Jasmin ; Bierhals, Tatjana ; Denecke, Jonas ; Uctepe, Eyyup ; Celik, Merve Yoldas ; Yesilyurt, Ahmet ; Yildiz Er, Hilal ; Yilmaz Gulec, Elif ; Mushiba, Aziza ; Almontashiri, Naif ; Gawlinski, Pawel ; Wiszniewski, Wojciech ; Karaca, Ender ; Alabdi, Lama ; Pehlivan, Davut ; Marafi, Dana ; Zaki, Maha S. ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Posey, Jennifer E. ; Bujakowska, Kinga M. ; Lupski, James R.
In The American Journal of Human Genetics 5 February 2026 113(2):362-379
Academic Journal
Nikhita Gogate; Angad Jolly; Jill A. Rosenfeld; Paulina Bahena-Carbajal; Jonathan A. Bernstein; Devon Bonner; Tiffany Busa; Ingrid Cristian; Precilla D’Souza; Jennifer Friedman; Svetlana Gorokhova; Thomas Haaf; Isabella Herman; Ugur Ufuk Isin; Shalini N Jhangiani; Ivy Johnson; Jerica Lenberg; Ellen F. Macnamara; Reza Maroofian; Undiagnosed Diseases Network; Melissa Racobaldo; Olivia L Redlich; Cynthia Tifft; Tulay Tos; Barbara Vona; Regina M. Zambrano; Ingrid M. Wentzensen; Kristen Wigby; Davut Pehlivan; Richard A Gibbs; James R Lupski; Jennifer E Posey
medRxiv
Academic Journal
Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M.; El-Rashidy, Omnia F.; Grochowski, Christopher M.; Carvalho, Claudia M. B.; Jhangiani, Shalini N.; Bi, Weimin; Du, Haowei; Gibbs, Richard A.; Posey, Jennifer E.; Calame, Daniel G.; Zaki, Maha S.; Lupski, James R.
European Journal of Human Genetics. 33(2):231-238
Academic Journal
Calame, Daniel G. ; Wong, Jovi Huixin ; Panda, Puravi ; Nguyen, Dat Tuan ; Leong, Nancy C.P. ; Sangermano, Riccardo ; Patankar, Sohil G. ; Abdel-Hamid, Mohamed S. ; AlAbdi, Lama ; Safwat, Sylvia ; Flannery, Kyle P. ; Dardas, Zain ; Fatih, Jawid M. ; Murali, Chaya ; Kannan, Varun ; Lotze, Timothy E. ; Herman, Isabella ; Ammouri, Farah ; Rezich, Brianna ; Efthymiou, Stephanie ; Alavi, Shahryar ; Murphy, David ; Firoozfar, Zahra ; Nasab, Mahya Ebrahimi ; Bahreini, Amir ; Ghasemi, Majid ; Haridy, Nourelhoda A. ; Goldouzi, Hamid Reza ; Eghbal, Fatemeh ; Karimiani, Ehsan Ghayoor ; Begtrup, Amber ; Elloumi, Houda ; Srinivasan, Varunvenkat M. ; Gowda, Vykuntaraju K. ; Du, Haowei ; Jhangiani, Shalini N. ; Coban-Akdemir, Zeynep ; Marafi, Dana ; Rodan, Lance ; Isikay, Sedat ; Rosenfeld, Jill A. ; Ramanathan, Subhadra ; Staton, Michael ; Oberg, Kerby C. ; Clark, Robin D. ; Wenman, Catharina ; Loughlin, Sam ; Saad, Ramy ; Ashraf, Tazeen ; Male, Alison ; Tadros, Shereen ; Boostani, Reza ; Abdel-Salam, Ghada M.H. ; Zaki, Maha ; Mardi, Ali ; Hashemi-Gorji, Farzad ; Abdalla, Ebtesam ; Manzini, M. Chiara ; Pehlivan, Davut ; Posey, Jennifer E. ; Gibbs, Richard A. ; Houlden, Henry ; Alkuraya, Fowzan S. ; Bujakowska, Kinga ; Maroofian, Reza ; Lupski, James R. ; Nguyen, Long N.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Davut Pehlivan; Jesse D. Bengtsson; Sameer S. Bajikar; Christopher M. Grochowski; Ming Yin Lun; Mira Gandhi; Angad Jolly; Alexander J. Trostle; Holly K. Harris; Bernhard Suter; Sukru Aras; Melissa B. Ramocki; Haowei Du; Michele G. Mehaffey; KyungHee Park; Ellen Wilkey; Cemal Karakas; Jesper J. Eisfeldt; Maria Pettersson; Lynn Liu; Marwan S. Shinawi; Virginia E. Kimonis; Wojciech Wiszniewski; Kyle Mckenzie; Timo Roser; Angela M. Vianna-Morgante; Alberto S. Cornier; Ahmed Abdelmoity; James P. Hwang; Shalini N. Jhangiani; Donna M. Muzny; Tadahiro Mitani; Kazuhiro Muramatsu; Shin Nabatame; Daniel G. Glaze; Jawid M. Fatih; Richard A. Gibbs; Zhandong Liu; Anna Lindstrand; Fritz J. Sedlazeck; James R. Lupski; Huda Y. Zoghbi; Claudia M. B. Carvalho
Genome Medicine, Vol 16, Iss 1, Pp 1-23 (2024)
Conference
Ng, Bobby G.; Gürsoy, Semra; Pehlivan, Davut; Gibbs, Richard A.; Bujakowska, Kinga M.; Scott, Ethan M.; Wenger, Olivia K.; Posey, Jennifer E.; Esch, Hilde Van; Zaki, Maha S.; Wood, Nick; Durkie, Miranda; Mcgavin, Lucy; Jones, Wendy D.; Kaiyrzhanov, Rauan; Maroofian, Reza; Ahmed, Mahmoud K. H.; Abdel-Hamid, Mohamed S.; Jhangiani, Shalini N.; Patankar, Sohil G.; Sangermano, Riccardo; Du, Haowei; Saad, Ahmad K.; Sano, Kanae; P. Guay, Kevin; Kikuma, Takashi; G. Salter, Claire; Harrold, Laura; Dardas, Zain
Academic Journal
Coban-Akdemir, Zeynep ; Song, Xiaofei ; Ceballos, Francisco C. ; Pehlivan, Davut ; Karaca, Ender ; Bayram, Yavuz ; Mitani, Tadahiro ; Gambin, Tomasz ; Bozkurt-Yozgatli, Tugce ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Lewis, Richard A. ; Liu, Pengfei ; Boerwinkle, Eric ; Hamosh, Ada ; Gibbs, Richard A. ; Sutton, V. Reid ; Sobreira, Nara ; Carvalho, Claudia M.B. ; Shaw, Chad A. ; Posey, Jennifer E. ; Valle, David ; Lupski, James R.
In Genetics in Medicine Open 2024 2
Academic Journal
Gu, Hyunjung; Yu, Yao; Sisoudiya, Saumya Dushyant; Mishra, Pamela; Li, He; Schraw, Jeremy M.; Scheurer, Michael E.; Muzny, Donna M.; Mitchell, Danielle; Taylor, Olga; Jhangiani, Shalini N.; Dugan-Perez, Shannon; Wu, Yifan; Doddapaneni, Harsha; Bhamidipati, Sravya Venkata; Gingras, Marie-Claude; Posey, Jennifer E.; Gibbs, Richard A.; Huff, Chad D.; Plon, Sharon E.; Lupo, Philip J.; Sabo, Aniko
Genetics in Medicine Open. 3
Academic Journal
Karaca, Ender; Posey, Jennifer E.; Akdemir, Zeynep Coban; Pehlivan, Davut; Harel, Tamar; Jhangiani, Shalini N.; Bayram, Yavuz; Song, Xiaofei; Bahrambeigi, Vahid; Yuregir, Ozge Ozalp; Bozdogan, Sevcan; YEŞİL, GÖZDE; Isikay, Sedat; Muzny, Donna; Gibbs, Richard A.; Lupski, James R.
Genet Med
Academic Journal
Grochowski, Christopher M. ; Bengtsson, Jesse D. ; Du, Haowei ; Gandhi, Mira ; Lun, Ming Yin ; Mehaffey, Michele G. ; Park, KyungHee ; Höps, Wolfram ; Benito, Eva ; Hasenfeld, Patrick ; Korbel, Jan O. ; Mahmoud, Medhat ; Paulin, Luis F. ; Jhangiani, Shalini N. ; Hwang, James Paul ; Bhamidipati, Sravya V. ; Muzny, Donna M. ; Fatih, Jawid M. ; Gibbs, Richard A. ; Pendleton, Matthew ; Harrington, Eoghan ; Juul, Sissel ; Lindstrand, Anna ; Sedlazeck, Fritz J. ; Pehlivan, Davut ; Lupski, James R. ; Carvalho, Claudia M.B.
In Cell Genomics 10 July 2024 4(7)
Academic Journal
Dardas, Zain; Fatih, Jawid M.; Jolly, Angad; Dawood, Moez; Du, Haowei; Grochowski, Christopher M.; Jones, Edward G.; Jhangiani, Shalini N.; Wehrens, Xander H. T.; Liu, Pengfei; Bi, Weimin; Boerwinkle, Eric; Posey, Jennifer E.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Coban-Akdemir, Zeynep; Morris, Shaine A.
Genome Medicine. 16(1)
Academic Journal
Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Coban Akdemir, Zeynep; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M.; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M.; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A.; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Boerwinkle, Eric; Gibbs, Richard A.; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E.; Elcioglu, Nursel H.; Tuysuz, Beyhan; Lupski, James R.
The American Journal of Human Genetics
Academic Journal
Calame, Daniel G. ; Guo, Tianyu ; Wang, Chen ; Garrett, Lillian ; Jolly, Angad ; Dawood, Moez ; Kurolap, Alina ; Henig, Noa Zunz ; Fatih, Jawid M. ; Herman, Isabella ; Du, Haowei ; Mitani, Tadahiro ; Becker, Lore ; Rathkolb, Birgit ; Gerlini, Raffaele ; Seisenberger, Claudia ; Marschall, Susan ; Hunter, Jill V. ; Gerard, Amanda ; Heidlebaugh, Alexis ; Challman, Thomas ; Spillmann, Rebecca C. ; Jhangiani, Shalini N. ; Coban-Akdemir, Zeynep ; Lalani, Seema ; Liu, Lingxiao ; Revah-Politi, Anya ; Iglesias, Alejandro ; Guzman, Edwin ; Baugh, Evan ; Boddaert, Nathalie ; Rondeau, Sophie ; Ormieres, Clothide ; Barcia, Giulia ; Tan, Queenie K.G. ; Thiffault, Isabelle ; Pastinen, Tomi ; Sheikh, Kazim ; Biliciler, Suur ; Mei, Davide ; Melani, Federico ; Shashi, Vandana ; Yaron, Yuval ; Steele, Mary ; Wakeling, Emma ; Østergaard, Elsebet ; Nazaryan-Petersen, Lusine ; Millan, Francisca ; Santiago-Sim, Teresa ; Thevenon, Julien ; Bruel, Ange-Line ; Thauvin-Robinet, Christel ; Popp, Denny ; Platzer, Konrad ; Gawlinski, Pawel ; Wiszniewski, Wojciech ; Marafi, Dana ; Pehlivan, Davut ; Posey, Jennifer E. ; Gibbs, Richard A. ; Gailus-Durner, Valerie ; Guerrini, Renzo ; Fuchs, Helmut ; Hrabě de Angelis, Martin ; Hölter, Sabine M. ; Cheung, Hoi-Hung ; Gu, Shen ; Lupski, James R.
In The American Journal of Human Genetics 3 August 2023 110(8):1394-1413
Academic Journal
Jolly, Angad ; Du, Haowei ; Borel, Christelle ; Chen, Na ; Zhao, Sen ; Grochowski, Christopher M. ; Duan, Ruizhi ; Fatih, Jawid M. ; Dawood, Moez ; Salvi, Sejal ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Koch, André ; Rouskas, Konstantinos ; Glentis, Stavros ; Deligeoroglou, Efthymios ; Bacopoulou, Flora ; Wise, Carol A. ; Dietrich, Jennifer E. ; Van den Veyver, Ignatia B. ; Dimas, Antigone S. ; Brucker, Sara ; Sutton, V. Reid ; Gibbs, Richard A. ; Antonarakis, Stylianos E. ; Wu, Nan ; Coban-Akdemir, Zeynep H. ; Zhu, Lan ; Posey, Jennifer E. ; Lupski, James R.
In Human Genetics and Genomics Advances 13 July 2023 4(3)
Academic Journal
Zhang, Chaofan ; Jolly, Angad ; Shayota, Brian J. ; Mazzeu, Juliana F. ; Du, Haowei ; Dawood, Moez ; Soper, Patricia Celestino ; Ramalho de Lima, Ariadne ; Ferreira, Bárbara Merfort ; Coban-Akdemir, Zeynep ; White, Janson ; Shears, Deborah ; Thomson, Fraser Robert ; Douglas, Sarah Louise ; Wainwright, Andrew ; Bailey, Kathryn ; Wordsworth, Paul ; Oldridge, Mike ; Lester, Tracy ; Calder, Alistair D. ; Dumic, Katja ; Banka, Siddharth ; Donnai, Dian ; Jhangiani, Shalini N. ; Potocki, Lorraine ; Chung, Wendy K. ; Mora, Sara ; Northrup, Hope ; Ashfaq, Myla ; Rosenfeld, Jill A. ; Mason, Kati ; Pollack, Lynda C. ; McConkie-Rosell, Allyn ; Kelly, Wei ; McDonald, Marie ; Hauser, Natalie S. ; Leahy, Peter ; Powell, Cynthia M. ; Boy, Raquel ; Honjo, Rachel Sayuri ; Kok, Fernando ; Martelli, Lucia R. ; Filho, Vicente Odone ; Genomics England Research Consortium ; Muzny, Donna M. ; Gibbs, Richard A. ; Posey, Jennifer E. ; Liu, Pengfei ; Lupski, James R. ; Sutton, V. Reid ; Carvalho, Claudia M.B.
In Human Genetics and Genomics Advances 13 January 2022 3(1)
Academic Journal
David A. Dyment; Anne O'Donnell‐Luria; Pankaj B. Agrawal; Zeynep Coban Akdemir; Kyrieckos A. Aleck; Danny Antaki; Hind Al Sharhan; Ping‐Yee B. Au; Hatip Aydin; Alan H. Beggs; Kaya Bilguvar; Eric Boerwinkle; Harrison Brand; Catherine A. Brownstein; Steve Buyske; Bernard Chodirker; Jungmin Choi; Albert E. Chudley; Carol L. Clericuzio; Gerald F. Cox; Cynthia Curry; Elke de Boer; Bert B. A. de Vries; Kathryn Dunn; Cullen M. Dutmer; Eleina M. England; Jill A. Fahrner; Bilgen B. Geckinli; Casie A. Genetti; Alper Gezdirici; William T. Gibson; Joseph G. Gleeson; Cheryl R. Greenberg; April Hall; Ada Hamosh; Taila Hartley; Shalini N. Jhangiani; Ender Karaca; Kristin Kernohan; Julie L. Lauzon; M. E. Suzanne Lewis; R. Brian Lowry; Francesc López‐Giráldez; Tara C. Matise; Jennifer McEvoy‐Venneri; Brenda McInnes; Aziz Mhanni; Sixto Garcia Minaur; Jukka Moilanen; An Nguyen; Malgorzata J. M. Nowaczyk; Jennifer E. Posey; Katrin Õunap; Davut Pehlivan; Sander Pajusalu; Lynette S. Penney; Timothy Poterba; Paolo Prontera; Maria Juliana Rodovalho Doriqui; Sarah L. Sawyer; Nara Sobreira; Valentina Stanley; Deniz Torun; David Wargowski; P. Dane Witmer; Isaac Wong; Jinchuan Xing; Maha S. Zaki; Yeting Zhang; Kym M. Boycott; Michael J. Bamshad; Deborah A. Nickerson; Elizabeth E. Blue; A. Micheil Innes
American Journal of Medical Genetics Part A. 185:119-133
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[검색어] Jhangiani, Shalini N
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