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Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.153-153, Article 153
2019
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The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31
2017
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Genetics in medicine, 2018-12, Vol.20 (12), p.1528-1537
2018
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Nucleic acids research, 2024-02, Vol.52 (4), p.e18
2024
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Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.365-365, Article 365
2021
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BMC medical genomics, 2024-04, Vol.17 (1), p.85-85
2024
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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.38-52
2020
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American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2919-2925
2020
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Genome medicine, 2024-04, Vol.16 (1), p.53-53
2024
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Genome medicine, 2022-10, Vol.14 (1), p.122-21, Article 122
- Du, Haowei
- Jolly, Angad
- Grochowski, Christopher M
- Yuan, Bo
- Dawood, Moez
- Jhangiani, Shalini N
- Li, He
- Muzny, Donna
- Fatih, Jawid M
- Coban-Akdemir, Zeynep
- Carlin, Mary Esther
- Scheuerle, Angela E
- Witzl, Karin
- Posey, Jennifer E
- Pendleton, Matthew
- Harrington, Eoghan
- Juul, Sissel
- Hastings, P J
- Bi, Weimin
- Gibbs, Richard A
- Sedlazeck, Fritz J
- Lupski, James R
- Carvalho, Claudia M B
- Liu, Pengfei
2022
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American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1066-1070
2017
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Diabetes care, 2024-05, Vol.47 (5), p.770
2024
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The New England journal of medicine, 2023-04, Vol.388 (17), p.1619-1620
2023
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Cell metabolism, 2023-02, Vol.35 (2), p.233-235
2023
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Genome medicine, 2016-02, Vol.8 (1), p.13-13, Article 13
2016
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Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1397-n/a
- Cope, Heidi
- Spillmann, Rebecca
- Rosenfeld, Jill A.
- Brokamp, Elly
- Signer, Rebecca
- Schoch, Kelly
- Kelley, Emily G.
- Sullivan, Jennifer A.
- Macnamara, Ellen
- Lincoln, Sharyn
- Golden‐Grant, Katie
- Orengo, James P.
- Clark, Gary
- Burrage, Lindsay C.
- Posey, Jennifer E.
- Punetha, Jaya
- Robertson, Amy
- Cogan, Joy
- Phillips, John A.
- Martinez‐Agosto, Julian
- Shashi, Vandana
2020
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Pediatric neurology, 2017-01, Vol.66, p.53-58.e5
2017
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Frontiers in pediatrics, 2019-07, Vol.7, p.303
2019
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HGG advances, 2021-10, Vol.2 (4), p.100049, Article 100049
- Khayat, Michael M.
- Hu, Jianhong
- Jiang, Yunyun
- Li, He
- Chander, Varuna
- Dawood, Moez
- Hansen, Adam W.
- Li, Shoudong
- Friedman, Jennifer
- Cross, Laura
- Bijlsma, Emilia K.
- Ruivenkamp, Claudia A.L.
- Sansbury, Francis H.
- Innis, Jeffrey W.
- Omark O’Shea, Jessica
- Meng, Qingchang
- Rosenfeld, Jill A.
- McWalter, Kirsty
- Wangler, Michael F.
- Lupski, James R.
- Posey, Jennifer E.
- Murdock, David
- Gibbs, Richard A.
2021
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JCI insight, 2022-12, Vol.7 (23)
- Salinas, Sandra Andrea
- Mace, Emily M
- Conte, Matilde I
- Park, Chun Shik
- Li, Yu
- Rosario-Sepulveda, Joshua I
- Mahapatra, Sanjana
- Moore, Emily K
- Hernandez, Evelyn R
- Chinn, Ivan K
- Reed, Abigail E
- Lee, Barclay J
- Frumovitz, Alexander
- Gibbs, Richard A
- Posey, Jennifer E
- Forbes Satter, Lisa R
- Thatayatikom, Akaluck
- Allenspach, Eric J
- Wensel, Theodore G
- Lupski, James R
- Lacorazza, H Daniel
- Orange, Jordan S
2022
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Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1395-1406
2019
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Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.610-627
- Marafi, Dana
- Mitani, Tadahiro
- Isikay, Sedat
- Hertecant, Jozef
- Almannai, Mohammed
- Manickam, Kandamurugu
- Abou Jamra, Rami
- El‐Hattab, Ayman W.
- Rajah, Jaishen
- Fatih, Jawid M.
- Du, Haowei
- Karaca, Ender
- Bayram, Yavuz
- Punetha, Jaya
- Rosenfeld, Jill A.
- Jhangiani, Shalini N.
- Boerwinkle, Eric
- Akdemir, Zeynep C.
- Erdin, Serkan
- Hunter, Jill V.
- Gibbs, Richard A.
- Pehlivan, Davut
- Posey, Jennifer E.
- Lupski, James R.
2020
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The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480
- Liu, Pengfei
- Meng, Linyan
- Normand, Elizabeth A
- Xia, Fan
- Song, Xiaofei
- Ghazi, Andrew
- Rosenfeld, Jill
- Magoulas, Pilar L
- Braxton, Alicia
- Ward, Patricia
- Dai, Hongzheng
- Yuan, Bo
- Bi, Weimin
- Xiao, Rui
- Wang, Xia
- Chiang, Theodore
- Vetrini, Francesco
- He, Weimin
- Cheng, Hanyin
- Dong, Jie
- Gijavanekar, Charul
- Benke, Paul J
- Bernstein, Jonathan A
- Eble, Tanya
- Eroglu, Yasemen
- Erwin, Deanna
- Escobar, Luis
- Gibson, James B
- Gripp, Karen
- Kleppe, Soledad
- Koenig, Mary K
- Lewis, Andrea M
- Natowicz, Marvin
- Mancias, Pedro
- Minor, LaKeesha
- Scaglia, Fernando
- Schaaf, Christian P
- Streff, Haley
- Vernon, Hilary
- Uhles, Crescenda L
- Zackai, Elaine H
- Wu, Nan
- Sutton, V. Reid
- Beaudet, Arthur L
- Muzny, Donna
- Gibbs, Richard A
- Posey, Jennifer E
- Lalani, Seema
- Shaw, Chad
- Eng, Christine M
- Lupski, James R
- Yang, Yaping
2019
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Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1023-n/a
- Lin, Mao
- Liu, Zhenlei
- Liu, Gang
- Zhao, Sen
- Li, Chao
- Chen, Weisheng
- Coban Akdemir, Zeynep
- Lin, Jiachen
- Song, Xiaofei
- Wang, Shengru
- Xu, Qiming
- Zhao, Yanxue
- Wang, Lianlei
- Zhang, Yuanqiang
- Yan, Zihui
- Liu, Sen
- Liu, Jiaqi
- Chen, Yixin
- Zuo, Yuzhi
- Yang, Xu
- Sun, Tianshu
- Yang, Xin‐Zhuang
- Niu, Yuchen
- Li, Xiaoxin
- You, Wesley
- Qiu, Bintao
- Ding, Chen
- Liu, Pengfei
- Zhang, Shuyang
- Carvalho, Claudia M. B.
- Posey, Jennifer E.
- Qiu, Guixing
- Lupski, James R.
- Wu, Zhihong
- Zhang, Jianguo
- Wu, Nan
2020
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Genetics in medicine, 2016-07, Vol.18 (7), p.678-685
- Posey, Jennifer E.
- Rosenfeld, Jill A.
- James, Regis A.
- Bainbridge, Matthew
- Niu, Zhiyv
- Wang, Xia
- Dhar, Shweta
- Wiszniewski, Wojciech
- Akdemir, Zeynep H.C.
- Gambin, Tomasz
- Xia, Fan
- Person, Richard E.
- Walkiewicz, Magdalena
- Shaw, Chad A.
- Sutton, V. Reid
- Beaudet, Arthur L.
- Muzny, Donna
- Eng, Christine M.
- Yang, Yaping
- Gibbs, Richard A.
- Lupski, James R.
- Boerwinkle, Eric
- Plon, Sharon E.
2016
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