All papers authored by James R. Lupski
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2024
Zain Dardas 
,
Jawid M. Fatih,
Angad Jolly,
Moez Dawood,
Haowei Du,
Christopher M. Grochowski,
Edward G. Jones,
Shalini N. Jhangiani,
Xander H. T. Wehrens,
Pengfei Liu,
Weimin Bi,
Eric Boerwinkle,
Jennifer E. Posey,
Donna M. Muzny,
Richard A. Gibbs
and 3 other authors
Download from doi.org
,
Jawid M. Fatih,
Angad Jolly,
Moez Dawood,
Haowei Du,
Christopher M. Grochowski,
Edward G. Jones,
Shalini N. Jhangiani,
Xander H. T. Wehrens,
Pengfei Liu,
Weimin Bi,
Eric Boerwinkle,
Jennifer E. Posey,
Donna M. Muzny,
Richard A. Gibbs
and 3 other authors
Download from doi.org
2023
Haowei Du ,
Zain Dardas ,
Angad Jolly ,
Christopher M. Grochowski ,
Shalini N. Jhangiani,
He Li ,
Donna Muzny,
Jawid M. Fatih ,
Gozde Yesil,
Nursel H. Elçioglu,
Alper Gezdirici,
Dana Marafi ,
Davut Pehlivan,
Daniel G. Calame ,
Claudia M. B. Carvalho
and 4 other authors
Download from doi.org
,
Zain Dardas ,
Angad Jolly ,
Christopher M. Grochowski ,
Shalini N. Jhangiani,
He Li ,
Donna Muzny,
Jawid M. Fatih ,
Gozde Yesil,
Nursel H. Elçioglu,
Alper Gezdirici,
Dana Marafi ,
Davut Pehlivan,
Daniel G. Calame ,
Claudia M. B. Carvalho
and 4 other authors
Download from doi.org
2022
Varuna Chander ,
Medhat Mahmoud ,
Jianhong Hu,
Zain Dardas ,
Christopher M. Grochowski ,
Moez Dawood,
Michael M. Khayat ,
He Li ,
Shoudong Li,
Shalini Jhangiani ,
Viktoriya Korchina,
Hua Shen,
George Weissenberger,
Qingchang Meng ,
Marie‐Claude Gingras
and 8 other authors
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,
Medhat Mahmoud ,
Jianhong Hu,
Zain Dardas ,
Christopher M. Grochowski ,
Moez Dawood,
Michael M. Khayat ,
He Li ,
Shoudong Li,
Shalini Jhangiani ,
Viktoriya Korchina,
Hua Shen,
George Weissenberger,
Qingchang Meng ,
Marie‐Claude Gingras
and 8 other authors
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2021
Ivan K. Chinn ,
Zhihui Xie,
Eunice C. Chan,
Bianca M. Nagata ,
Alexey Koval ,
Wei-Sheng Chen,
Fan Zhang ,
Sundar Ganesan,
Diana N. Hong ,
Motoshi Suzuki ,
Glenn Nardone ,
Ian N. Moore ,
Vladimir L. Katanaev ,
Andrea E. Balazs ,
Chengyu Liu
and 3 other authors
,
Zhihui Xie,
Eunice C. Chan,
Bianca M. Nagata ,
Alexey Koval ,
Wei-Sheng Chen,
Fan Zhang ,
Sundar Ganesan,
Diana N. Hong ,
Motoshi Suzuki ,
Glenn Nardone ,
Ian N. Moore ,
Vladimir L. Katanaev ,
Andrea E. Balazs ,
Chengyu Liu
and 3 other authors
Short stature and combined immunodeficiency associated with mutations in RGS10
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Carole Le Coz ,
David N. Nguyen ,
Chun Su ,
Brian E. Nolan ,
Amanda V. Albrecht ,
Suela Xhani ,
Di Sun ,
Benjamin Demaree ,
Piyush Pillarisetti ,
Caroline Khanna ,
Francis Wright ,
Peixin Amy Chen ,
Samuel Yoon ,
Amy L. Stiegler ,
Kelly Maurer
and 30 other authors
,
David N. Nguyen ,
Chun Su ,
Brian E. Nolan ,
Amanda V. Albrecht ,
Suela Xhani ,
Di Sun ,
Benjamin Demaree ,
Piyush Pillarisetti ,
Caroline Khanna ,
Francis Wright ,
Peixin Amy Chen ,
Samuel Yoon ,
Amy L. Stiegler ,
Kelly Maurer
and 30 other authors
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
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Michael M. Khayat ,
He Li ,
Varuna Chander,
Jianhong Hu,
Adam W. Hansen ,
Shoudong Li,
Josh Traynelis,
Hua Shen,
George Weissenberger,
Fabio Stossi,
Hannah L. Johnson,
James R. Lupski ,
Jennifer E. Posey ,
Aniko Sabo ,
Qingchang Meng
and 3 other authors
Download from onlinelibrary.wiley.com
,
He Li ,
Varuna Chander,
Jianhong Hu,
Adam W. Hansen ,
Shoudong Li,
Josh Traynelis,
Hua Shen,
George Weissenberger,
Fabio Stossi,
Hannah L. Johnson,
James R. Lupski ,
Jennifer E. Posey ,
Aniko Sabo ,
Qingchang Meng
and 3 other authors
Download from onlinelibrary.wiley.com
2020
Ximena Montenegro‐Garreaud,
Tadahiro Mitani,
Hua Shen,
Davut Pehlivan,
Qingchang Meng,
Jill A. Rosenfeld,
Suneeta Madan‐Khetarpal,
Daryl A. Scott ,
Milana Trubnykova,
Donna M. Muzny,
Jennifer E. Posey ,
Pengfei Liu,
James R. Lupski ,
Adam W. Hansen ,
Michael M. Khayat
and 11 other authors
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,
Milana Trubnykova,
Donna M. Muzny,
Jennifer E. Posey ,
Pengfei Liu,
James R. Lupski ,
Adam W. Hansen ,
Michael M. Khayat
and 11 other authors
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Sarah A. Cook ,
William A. Comrie ,
M. Cecilia Poli ,
Morgan Similuk ,
Andrew J. Oler ,
Aiman J. Faruqi ,
Douglas B. Kuhns ,
Sheng Yang ,
Alexander Vargas-Hernández,
Alexandre F. Carisey ,
Benjamin Fournier ,
D. Eric Anderson ,
Susan Price ,
Margery Smelkinson ,
Wadih Abou Chahla
and 24 other authors
,
William A. Comrie ,
M. Cecilia Poli ,
Morgan Similuk ,
Andrew J. Oler ,
Aiman J. Faruqi ,
Douglas B. Kuhns ,
Sheng Yang ,
Alexander Vargas-Hernández,
Alexandre F. Carisey ,
Benjamin Fournier ,
D. Eric Anderson ,
Susan Price ,
Margery Smelkinson ,
Wadih Abou Chahla
and 24 other authors
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
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2019
Weisheng Chen,
Jiachen Lin,
Lianlei Wang,
Xiaoxin Li,
Sen Zhao ,
Jiaqi Liu,
Zeynep C. Akdemir,
Yanxue Zhao,
Renqian Du,
Yongyu Ye,
Xiaofei Song,
Yuanqiang Zhang,
Zihui Yan,
Xinzhuang Yang,
Mao Lin
and 21 other authors
,
Jiaqi Liu,
Zeynep C. Akdemir,
Yanxue Zhao,
Renqian Du,
Yongyu Ye,
Xiaofei Song,
Yuanqiang Zhang,
Zihui Yan,
Xinzhuang Yang,
Mao Lin
and 21 other authors
TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease
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2016
Charlotte W. Ockeloen,
Kriti D. Khandelwal,
Karoline Dreesen,
Kerstin U. Ludwig ,
Robert Sullivan,
Iris A. L. M. van Rooij,
Michelle Thonissen,
Steven Swinnen,
I. A. L. M. van Rooij,
Milien Phan,
I. A. van Rooij,
Federica Conte,
Nina Ishorst,
Christian F. Gilissen ,
Laury A. Roa Fuentes
and 37 other authors
,
Robert Sullivan,
Iris A. L. M. van Rooij,
Michelle Thonissen,
Steven Swinnen,
I. A. L. M. van Rooij,
Milien Phan,
I. A. van Rooij,
Federica Conte,
Nina Ishorst,
Christian F. Gilissen ,
Laury A. Roa Fuentes
and 37 other authors
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
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