학술논문
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'학술논문'
에서 검색결과 492건 | 목록
1~20
Academic Journal
Rachel K. Friedman; Adam S. Heath; Jennifer E. Huffman; James T. Baker; Natalie R. Hasbani; Sarah A. Gagliano Taliun; Ming–Huei Chen; Tom E. Howard; Joshua P. Lewis; Nathan Pankratz; Snehal Patil; Alex P. Reiner; Florian Thibord; Lisa R. Yanek; Jie Yao; Hung–Hsin Chen; Joanne E. Curran; Nauder Faraday; Xiuqing Guo; Marsha M. Wheeler; Kathleen A. Ryan; Xiang Zhou; Kelly Cho; Laura Almasy; Paul L. Auer; Lewis C. Becker; Peter W.F. Wilson; Eric Boerwinkle; Jeffrey R. O’Connell; Stephen S. Rich; David C. Samuels; John Blangero; Myriam Fornage; Charles Kooperberg; Rasika A. Mathias; Braxton D. Mitchell; Jerome I. Rotter; Andrew D. Johnson; Nicholas L. Smith; Zeynep H. Coban–Akdemir; Jennifer E. Below; Alanna C. Morrison; Jill M. Johnsen; Paul S. de Vries
Journal of Thrombosis and Haemostasis. 23:2410-2421
Academic Journal
Bozkurt-Yozgatli, Tugce; Lun, Ming Yin; Bengtsson, Jesse D.; Sezerman, Ugur; Chinn, Ivan K.; Coban-Akdemir, Zeynep; Carvalho, Claudia M. B.
European Journal of Human Genetics. 33(7):887-895
Academic Journal
Archana Rai; Jonathan Klonowski; Bo Yuan; Karen J. Coveler; Zain Dardas; Iman Egab; Jiaoyang Xu; Philip J. Lupo; A. J. Agopian; Dennis Kostka; Cecilia W. Lo; Stephen (Song) Yi; Bruce D. Gelb; Christine E. Seidman; Eric Boerwinkle; Jennifer E. Posey; Richard A. Gibbs; James R. Lupski; Shaine A. Morris; Zeynep Coban-Akdemir
The American Journal of Human Genetics. 112:1664-1680
Academic Journal
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
Kolakada, Divya; Fu, Rui; Biziaev, Nikita; Shuvalov, Alexey; Lore, Mlana; Campbell, Amy E.; Cortázar, Michael A.; Sajek, Marcin P.; Hesselberth, Jay R.; Mukherjee, Neelanjan; Alkalaeva, Elena; Coban-Akdemir, Zeynep H.; Jagannathan, Sujatha
Cell Genomics. 5(7)
Academic Journal
Rai, Archana ; Klonowski, Jonathan ; Yuan, Bo ; Coveler, Karen J. ; Dardas, Zain ; Egab, Iman ; Xu, Jiaoyang ; Lupo, Philip J. ; Agopian, A.J. ; Kostka, Dennis ; Lo, Cecilia W. ; Yi, S. Stephen ; Gelb, Bruce D. ; Seidman, Christine E. ; Boerwinkle, Eric ; Posey, Jennifer E. ; Gibbs, Richard A. ; Lupski, James R. ; Morris, Shaine A. ; Coban-Akdemir, Zeynep
In The American Journal of Human Genetics 3 July 2025 112(7):1664-1680
Academic Journal
Poli, M. Cecilia; Rebolledo-Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martín, Luz M.; Encina, Gonzalo; Böhme, Daniela; Faundes, Víctor; Zavala, M. Jesús; Hasbún, Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; de la Cruz, Javiera; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; Martin, Esteban San; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Lupski, James R.; Repetto, Gabriela M.
European Journal of Human Genetics. 32(10):1227-1237
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
Ruizhi Duan; Dana Marafi; Zhi‐Jie Xia; Bobby G. Ng; Reza Maroofian; Farhana Taher Sumya; Ahmed K. Saad; Haowei Du; Jawid M. Fatih; Jill V. Hunter; Hasnaa M. Elbendary; Shahid M. Baig; Uzma Abdullah; Zafar Ali; Stephanie Efthymiou; David Murphy; Tadahiro Mitani; Marjorie A. Withers; Shalini N. Jhangiani; Zeynep Coban‐Akdemir; Daniel G. Calame; Davut Pehlivan; Richard A. Gibbs; Jennifer E. Posey; Henry Houlden; Vladimir V. Lupashin; Maha S. Zaki; Hudson H. Freeze; James R. Lupski
Journal of Inherited Metabolic Disease. 46:1195-1205
Academic Journal
Tugce Bozkurt‑Yozgatli; Davut Pehlivan; Richard A. Gibbs; Ugur Sezerman; Jennifer E. Posey; James R. Lupski; Zeynep Coban‑Akdemir
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)
Academic Journal
Monica H. Wojcik; Chloe M. Reuter; Shruti Marwaha; Medhat Mahmoud; Michael H. Duyzend; Hayk Barseghyan; Bo Yuan; Philip M. Boone; Emily E. Groopman; Emmanuèle C. Délot; Deepti Jain; Alba Sanchis-Juan; Siwaar Abouhala; Jessica Albert; Miguel Almalvez; Raquel Alvarez; Mutaz Amin; Peter Anderson; Swaroop Aradhya; Euan Ashley; Themistocles Assimes; Light Auriga; Christina Austin-Tse; Mike Bamshad; Samantha Baxter; Sairam Behera; Shaghayegh Beheshti; Gill Bejerano; Seth Berger; Jon Bernstein; Sabrina Best; Benjamin Blankenmeister; Elizabeth Blue; Eric Boerwinkle; Emily Bonkowski; Devon Bonner; Philip Boone; Miriam Bornhorst; Tugce Bozkurt-Yozgatli; Harrison Brand; Kati Buckingham; Daniel Calame; Silvia Casadei; Lisa Chadwick; Clarisa Chavez; Ziwei Chen; Ivan Chinn; Jessica Chong; Zeynep Coban-Akdemir; Andrea J. Cohen; Sarah Conner; Matthew Conomos; Karen Coveler; Ya Allen Cui; Sara Currin; Robert Daber; Zain Dardas; Colleen Davis; Moez Dawood; Ivan de Dios; Celine de Esch; Meghan Delaney; Emmanuèle Délot; Stephanie DiTroia; Harsha Doddapaneni; Haowei Du; Ruizhi Duan; Shannon Dugan-Perez; Nhat Duong; Michael Duyzend; Evan Eichler; Sara Emami; Jawid Fatih; Jamie Fraser; Vincent Fusaro; Miranda Galey; Vijay Ganesh; Kiran Garimella; Richard Gibbs; Casey Gifford; Amy Ginsburg; Pagé Goddard; Stephanie Gogarten; Nikhita Gogate; William Gordon; John E. Gorzynski; William Greenleaf; Christopher Grochowski; Emily Groopman; Rodrigo Guarischi Sousa; Sanna Gudmundsson; Ashima Gulati; Daniel Guo; Walker Hale; Stacey Hall; William Harvey; Megan Hawley; Ben Heavner; Isabella Herman; Martha Horike-Pyne; Jianhong Hu; Yongqing Huang; James Hwang; Gail Jarvik; Tanner Jensen; Shalini Jhangiani; David Jimenez-Morales; Christopher Jin; Ahmed K. Saad; Amanda Kahn-Kirby; Jessica Kain; Parneet Kaur; Laura Keehan; Susan Knoblach; Arthur Ko; Jennefer Kohler; Anshul Kundaje; Soumya Kundu; Samuel M. Lancaster; Katie Larsson; Gabrielle Lemire; Richard Lewis; Wei Li; Yidan Li; Pengfei Liu; Jonathan LoTempio; James Lupski; Jialan Ma; Daniel MacArthur; Nirav Malani; Brian Mangilog; Dana Marafi; Sofia Marmolejos; Daniel Marten; Eva Martinez; Colby Marvin; Francesco Kumara Mastrorosa; Dena Matalon; Susanne May; Sean McGee; Lauren Meador; Heather Mefford; Hector Rodrigo Mendez; Alexander Miller; Danny E. Miller; Tadahiro Mitani; Stephen Montgomery; Hala Mohamed Moussa; Mariana Moyses; Chloe Munderloh; Donna Muzny; Sarah Nelson; Matthew B. Neu; Jonathan Nguyen; Thuy-mi P. Nguyen; Robert Nussbaum; Keith Nykamp; William O'Callaghan; Emily O'Heir; Melanie O'Leary; Jeren Olsen; Ikeoluwa Osei-Owusu; Anne O'Donnell-Luria; Evin Padhi; Lynn Pais; Miao Pan; Piyush Panchal; Karynne Patterson; Sheryl Payne; Davut Pehlivan; Paul Petrowski; Alicia Pham; Georgia Pitsava; Astaria Podesta; Sarah Ponce; Jennifer Posey; Jaime Prosser; Thomas Quertermous; Archana Rai; Arun Ramani; Heidi Rehm; Chloe Reuter; Jason Reuter; Matthew Richardson; Andres Rivera-Munoz; Oriane Rubio; Aniko Sabo; Monica Salani; Kaitlin Samocha; Sarah Savage; Stuart Scott; Evette Scott; Fritz Sedlazeck; Gulalai Shah; Ali Shojaie; Mugdha Singh; Josh Smith; Kevin Smith; Hana Snow; Michael Snyder; Kayla Socarras; Lea Starita; Brigitte Stark; Sarah Stenton; Andrew Stergachis; Adrienne Stilp; Laksshman Sundaram; V. Reid Sutton; Jui-Cheng Tai; Michael Talkowski; Christina Tise; Catherine Tong; Philip Tsao; Rachel Ungar; Grace VanNoy; Eric Vilain; Isabella Voutos; Kim Walker; Ben Weisburd; Jeff Weiss; Chris Wellington; Ziming Weng; Emily Westheimer; Marsha Wheeler; Matthew Wheeler; Laurens Wiel; Michael Wilson; Monica Wojcik; Quenna Wong; Issac Wong; Changrui Xiao; Rachita Yadav; Qian Yi; Jianhua Zhao; Jimmy Zhen; Harry Zhou; Lea M. Starita; Stephen B. Montgomery; Michael J. Bamshad; Jessica X. Chong; Matthew T. Wheeler; Seth I. Berger; Fritz J. Sedlazeck
The American Journal of Human Genetics. 110:1229-1248
Academic Journal
Daniel G Calame 1; Tianyu Guo 2; Chen Wang 2; Lillian Garrett 3; Angad Jolly 4; Moez Dawood 5; Alina Kurolap 6; Noa Zunz Henig 6; Jawid M Fatih; Isabella Herman; Haowei Du; Tadahiro Mitani; Lore Becker; Birgit Rathkolb; Raffaele Gerlini; Claudia Seisenberger; Susan Marschall; Jill V Hunter; Amanda Gerard; Alexis Heidlebaugh; Thomas Challman; Rebecca C Spillmann; Shalini N Jhangiani; Zeynep Coban-Akdemir; Seema Lalani; Lingxiao Liu; Anya Revah-Politi; Alejandro Iglesias; Edwin Guzman; Evan Baugh; Nathalie Boddaert; Sophie Rondeau; Clothide Ormieres; Giulia Barcia; Queenie K G Tan; Isabelle Thiffault; Tomi Pastinen; Kazim Sheikh; Suur Biliciler; Davide Mei; Federico Melani; Vandana Shashi; Yuval Yaron; Mary Steele; Emma Wakeling; Elsebet Østergaard; Lusine Nazaryan-Petersen; Undiagnosed Diseases Network; Francisca Millan; Teresa Santiago-Sim; Julien Thevenon; Ange-Line Bruel; Christel Thauvin-Robinet; Denny Popp; Konrad Platzer; Pawel Gawlinski; Wojciech Wiszniewski; Dana Marafi; Davut Pehlivan; Jennifer E Posey; Richard A Gibbs; Valerie Gailus-Durner; Renzo Guerrini; Helmut Fuchs; Martin Hrabě de Angelis; Sabine M Hölter; Hoi-Hung Cheung; Shen Gu; James R Lupski
Am. J. Hum. Genet. 110, 1394-1413 (2023)
Academic Journal
Abouhala, Siwaar ; Albert, Jessica ; Almalvez, Miguel ; Alvarez, Raquel ; Amin, Mutaz ; Anderson, Peter ; Aradhya, Swaroop ; Ashley, Euan ; Assimes, Themistocles ; Auriga, Light ; Austin-Tse, Christina ; Bamshad, Mike ; Barseghyan, Hayk ; Baxter, Samantha ; Behera, Sairam ; Beheshti, Shaghayegh ; Bejerano, Gill ; Berger, Seth ; Bernstein, Jon ; Best, Sabrina ; Blankenmeister, Benjamin ; Blue, Elizabeth ; Boerwinkle, Eric ; Bonkowski, Emily ; Bonner, Devon ; Boone, Philip ; Bornhorst, Miriam ; Brand, Harrison ; Buckingham, Kati ; Calame, Daniel ; Carter, Jennefer ; Casadei, Silvia ; Chadwick, Lisa ; Chavez, Clarisa ; Chen, Ziwei ; Chinn, Ivan ; Chong, Jessica ; Coban-Akdemir, Zeynep ; Cohen, Andrea J. ; Conner, Sarah ; Conomos, Matthew ; Coveler, Karen ; Cui, Ya Allen ; Currin, Sara ; Daber, Robert ; Dardas, Zain ; Davis, Colleen ; Dawood, Moez ; de Dios, Ivan ; de Esch, Celine ; Delaney, Meghan ; Delot, Emmanuele ; DiTroia, Stephanie ; Doddapaneni, Harsha ; Du, Haowei ; Duan, Ruizhi ; Dugan-Perez, Shannon ; Duong, Nhat ; Duyzend, Michael ; Eichler, Evan ; Emami, Sara ; Fraser, Jamie ; Fusaro, Vincent ; Galey, Miranda ; Ganesh, Vijay ; Garcia, Brandon ; Garimella, Kiran ; Gibbs, Richard ; Gifford, Casey ; Ginsburg, Amy ; Goddard, Page ; Gogarten, Stephanie ; Gogate, Nikhita ; Gordon, William ; Gorzynski, John E. ; Greenleaf, William ; Grochowski, Christopher ; Groopman, Emily ; Sousa, Rodrigo Guarischi ; Gudmundsson, Sanna ; Gulati, Ashima ; Hall, Stacey ; Harvey, William ; Hawley, Megan ; Heavner, Ben ; Horike-Pyne, Martha ; Hu, Jianhong ; Huang, Yongqing ; Hwang, James ; Jarvik, Gail ; Jensen, Tanner ; Jhangiani, Shalini ; Jimenez-Morales, David ; Jin, Christopher ; Saad, Ahmed K. ; Kahn-Kirby, Amanda ; Kain, Jessica ; Kaur, Parneet ; Keehan, Laura ; Knoblach, Susan ; Ko, Arthur ; Kundaje, Anshul ; Kundu, Soumya ; Lancaster, Samuel M. ; Larsson, Katie ; Lee, Arthur ; Lemire, Gabrielle ; Lewis, Richard ; Li, Wei ; Li, Yidan ; Liu, Pengfei ; LoTempio, Jonathan ; Lupski, James (Jim) ; Ma, Jialan ; MacArthur, Daniel ; Mahmoud, Medhat ; Malani, Nirav ; Mangilog, Brian ; Marafi, Dana ; Marmolejos, Sofia ; Marten, Daniel ; Martinez, Eva ; Marvin, Colby ; Marwaha, Shruti ; Mastrorosa, Francesco Kumara ; Matalon, Dena ; May, Susanne ; McGee, Sean ; Meador, Lauren ; Mefford, Heather ; Mendez, Hector Rodrigo ; Miller, Alexander ; Miller, Danny E. ; Mitani, Tadahiro ; Montgomery, Stephen ; Moyses, Mariana ; Munderloh, Chloe ; Muzny, Donna ; Nelson, Sarah ; Nguyen, Thuy-mi P. ; Nguyen, Jonathan ; Nussbaum, Robert ; Nykamp, Keith ; O'Callaghan, William ; O'Heir, Emily ; O'Leary, Melanie ; Olsen, Jeren ; Osei-Owusu, Ikeoluwa ; O'Donnell-Luria, Anne ; Padhi, Evin ; Pais, Lynn ; Pan, Miao ; Panchal, Piyush ; Patterson, Karynne ; Payne, Sheryl ; Pehlivan, Davut ; Petrowski, Paul ; Pham, Alicia ; Pitsava, Georgia ; Podesta, Astaria`Sara ; Ponce, Sarah ; Porter, Elizabeth ; Posey, Jennifer ; Prosser, Jaime ; Quertermous, Thomas ; Rai, Archana ; Ramani, Arun ; Rehm, Heidi ; Reuter, Chloe ; Reuter, Jason ; Richardson, Matthew ; Rivera-Munoz, Andres ; Rubio, Oriane ; Sabo, Aniko ; Salani, Monica ; Samocha, Kaitlin ; Sanchis-Juan, Alba ; Savage, Sarah ; Scott, Evette ; Scott, Stuart ; Sedlazeck, Fritz ; Shah, Gulalai ; Shojaie, Ali ; Singh, Mugdha ; Smith, Kevin ; Smith, Josh ; Snow, Hana ; Snyder, Michael ; Socarras, Kayla ; Starita, Lea ; Stark, Brigitte ; Stenton, Sarah ; Stergachis, Andrew ; Stilp, Adrienne ; Sutton, V. Reid ; Tai, Jui-Cheng ; Talkowski, Michael (Mike) ; Tise, Christina ; Tong, Catherine (Cat) ; Tsao, Philip ; Ungar, Rachel ; VanNoy, Grace ; Vilain, Eric ; Voutos, Isabella ; Walker, Kim ; Wei, Chia-Lin ; Weisburd, Ben ; Weiss, Jeff ; Wellington, Chris ; Weng, Ziming ; Westheimer, Emily ; Wheeler, Marsha ; Wheeler, Matthew ; Wiel, Laurens ; Wilson, Michael ; Wojcik, Monica ; Wong, Quenna ; Xiao, Changrui ; Yadav, Rachita ; Yi, Qian ; Yuan, Bo ; Zhao, Jianhua ; Zhen, Jimmy ; Zhou, Harry ; Chong, Jessica X. ; Berger, Seth I. ; Smith, Erica ; Calame, Daniel G. ; Hawley, Megan H. ; Rivera-Munoz, E. Andres ; Bamshad, Michael J. ; Rehm, Heidi L.
In Genetics in Medicine October 2024 26(10)
Academic Journal
Felix Boschann; Ozgur Cogulu; Davut Pehlivan; Saranya Balachandran; Pedro Vallecillo-Garcia; Christopher M. Grochowski; Nils R. Hansmeier; Zeynep H. Coban Akdemir; Cesar A. Prada-Medina; Ayca Aykut; Björn Fischer-Zirnsak; Simon Badura; Burak Durmaz; Ferda Ozkinay; René Hägerling; Jennifer E. Posey; Sigmar Stricker; Gabriele Gillessen-Kaesbach; Malte Spielmann; Denise Horn; Knut Brockmann; James R. Lupski; Uwe Kornak; Julia Schmidt
GENETICS IN MEDICINE
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
Bozkurt-Yozgatli, Tugce; Pehlivan, Davut; Gibbs, Richard A.; Sezerman, Ugur; Posey, Jennifer E.; Lupski, James R.; Coban-Akdemir, Zeynep
BMC Medical Genomics. 17(1)
Academic Journal
Margaux Serey-Gaut; Marisol Cortes; Periklis Makrythanasis; Mohnish Suri; Alexander M.R. Taylor; Jennifer A. Sullivan; Ayat N. Asleh; Jaba Mitra; Mohamad A. Dar; Amy McNamara; Vandana Shashi; Sarah Dugan; Xiaofei Song; Jill A. Rosenfeld; Christelle Cabrol; Justyna Iwaszkiewicz; Vincent Zoete; Davut Pehlivan; Zeynep Coban Akdemir; Elizabeth R. Roeder; Rebecca Okashah Littlejohn; Harpreet K. Dibra; Philip J. Byrd; Grant S. Stewart; Bilgen B. Geckinli; Jennifer Posey; Rachel Westman; Chelsy Jungbluth; Jacqueline Eason; Rani Sachdev; Carey-Anne Evans; Gabrielle Lemire; Grace E. VanNoy; Anne O’Donnell-Luria; Frédéric Tran Mau-Them; Aurélien Juven; Juliette Piard; Cheng Yee Nixon; Ying Zhu; Taekjip Ha; Michael F. Buckley; Christel Thauvin; George K. Essien Umanah; Lionel Van Maldergem; James R. Lupski; Tony Roscioli; Valina L. Dawson; Ted M. Dawson; Stylianos E. Antonarakis
The American Journal of Human Genetics. 110:499-515
Academic Journal
Moez Dawood; Gulsen Akay; Tadahiro Mitani; Dana Marafi; Jawid M. Fatih; Alper Gezdirici; Hossein Najmabadi; Kimia Kahrizi; Jaya Punetha; Christopher M. Grochowski; Haowei Du; Angad Jolly; He Li; Zeynep Coban‐Akdemir; Fritz J. Sedlazeck; Jill V. Hunter; Shalini N. Jhangiani; Donna Muzny; Davut Pehlivan; Jennifer E. Posey; Claudia M. B. Carvalho; Richard A. Gibbs; James R. Lupski
American Journal of Medical Genetics Part A. 191:794-804
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