All papers authored by James R. Lupski
Refreshing results…
2024
Adam S. Potter,
Christina Y. Miyake 
,
Claudia Gonzaga-Jauregui ,
Yuriana Aguilar-Sanchez ,
Mohit M. Hulsurkar ,
Satadru K. Lahiri ,
Lucia M. Moreira ,
Neelam Mehta,
Mahshid S. Azamian ,
James R. Lupski ,
Svetlana Reilly ,
Seema R. Lalani ,
Xander H. T. Wehrens
Upload
,
Claudia Gonzaga-Jauregui ,
Yuriana Aguilar-Sanchez ,
Mohit M. Hulsurkar ,
Satadru K. Lahiri ,
Lucia M. Moreira ,
Neelam Mehta,
Mahshid S. Azamian ,
James R. Lupski ,
Svetlana Reilly ,
Seema R. Lalani ,
Xander H. T. Wehrens
Upload
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
Upload
,
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
Upload
Monica Penon‐Portmann ,
Mohammad K. Eldomery,
Lorraine Potocki,
Dana Marafi ,
Jennifer E. Posey ,
Zeynep Coban‐Akdemir,
Tamar Harel ,
Christopher M. Grochowski,
Hailey Loucks,
Walter Patrick Devine,
Jessica Van Ziffle,
Dan Doherty ,
James R. Lupski ,
Joseph T. Shieh
,
Mohammad K. Eldomery,
Lorraine Potocki,
Dana Marafi ,
Jennifer E. Posey ,
Zeynep Coban‐Akdemir,
Tamar Harel ,
Christopher M. Grochowski,
Hailey Loucks,
Walter Patrick Devine,
Jessica Van Ziffle,
Dan Doherty ,
James R. Lupski ,
Joseph T. Shieh
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Download from onlinelibrary.wiley.com
Ariadne R. Lima,
Barbara M. Ferreira,
Chaofan Zhang,
Angad Jolly,
Haowei Du ,
Janson J. White,
Moez Dawood,
Tulio C. Lins,
Marcela A. Chiabai,
Ellen van Beusekom,
Mara S. Cordoba,
Erica C. C. Caldas Rosa,
Hulya Kayserili,
Virginia Kimonis,
Erica Wu
and 34 other authors
,
Janson J. White,
Moez Dawood,
Tulio C. Lins,
Marcela A. Chiabai,
Ellen van Beusekom,
Mara S. Cordoba,
Erica C. C. Caldas Rosa,
Hulya Kayserili,
Virginia Kimonis,
Erica Wu
and 34 other authors
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome
Download from onlinelibrary.wiley.com
Grant J. Brown ,
Pablo F. Cañete,
Hao Wang,
Arti Medhavy ,
Josiah Bones ,
Jonathan A. Roco,
Yuke He ,
Yuting Qin,
Jean Cappello,
Julia I. Ellyard ,
Katharine Bassett,
Qian Shen,
Gaetan Burgio,
Yaoyuan Zhang ,
Cynthia Turnbull
and 29 other authors
,
Pablo F. Cañete,
Hao Wang,
Arti Medhavy ,
Josiah Bones ,
Jonathan A. Roco,
Yuke He ,
Yuting Qin,
Jean Cappello,
Julia I. Ellyard ,
Katharine Bassett,
Qian Shen,
Gaetan Burgio,
Yaoyuan Zhang ,
Cynthia Turnbull
and 29 other authors
TLR7 gain-of-function genetic variation causes human lupus
Upload
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
Upload
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
Download from rupress.org
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
Chaofan Zhang ,
Juliana F. Mazzeu ,
Jesper Eisfeldt,
Christopher M. Grochowski ,
Janson White,
Zeynep C. Akdemir,
Shalini N. Jhangiani,
Donna M. Muzny,
Richard A. Gibbs ,
Anna Lindstrand,
James R. Lupski ,
V. Reid Sutton,
Claudia M. B. Carvalho
,
Juliana F. Mazzeu ,
Jesper Eisfeldt,
Christopher M. Grochowski ,
Janson White,
Zeynep C. Akdemir,
Shalini N. Jhangiani,
Donna M. Muzny,
Richard A. Gibbs ,
Anna Lindstrand,
James R. Lupski ,
V. Reid Sutton,
Claudia M. B. Carvalho
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Download from onlinelibrary.wiley.com
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
Download from api.wiley.com
,
Milana Trubnykova,
Donna M. Muzny,
Jennifer E. Posey ,
Pengfei Liu,
James R. Lupski ,
Adam W. Hansen ,
Michael M. Khayat
and 11 other authors
Download from api.wiley.com
Sarah A. Cook ,
William A. Comrie ,
Maria Cecilia Poli ,
Morgan Similuk ,
Andrew J. Oler ,
Aiman J. Faruqi ,
Douglas B. Kuhns ,
Sheng Yang ,
Alexander Vargas-Hernández,
Alexandre F. Carisey ,
Benjamin Fournier ,
David Eric Anderson ,
Wadih Abou Chahla,
Susan Price ,
Margery Smelkinson
and 30 other authors
,
William A. Comrie ,
Maria Cecilia Poli ,
Morgan Similuk ,
Andrew J. Oler ,
Aiman J. Faruqi ,
Douglas B. Kuhns ,
Sheng Yang ,
Alexander Vargas-Hernández,
Alexandre F. Carisey ,
Benjamin Fournier ,
David Eric Anderson ,
Wadih Abou Chahla,
Susan Price ,
Margery Smelkinson
and 30 other authors
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
Upload
2019
Kathie J. Ngo,
Jessica E. Rexach,
Hane Lee,
Lauren E. Petty,
Susan Perlman,
Juliana M. Valera,
Joshua L. Deignan,
Yuanming Mao,
Mamdouh Aker,
Jennifer E. Posey ,
Shalini N. Jhangiani,
Zeynep H. Coban‐Akdemir,
Eric Boerwinkle,
Donna Muzny,
Alexandra B. Nelson
and 11 other authors
,
Shalini N. Jhangiani,
Zeynep H. Coban‐Akdemir,
Eric Boerwinkle,
Donna Muzny,
Alexandra B. Nelson
and 11 other authors
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Download from api.wiley.com
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
Upload
2016
Tomasz Gambin,
Zeynep C. Akdemir,
Bo Yuan,
Shen Gu,
Theodore Chiang,
Claudia M. B. Carvalho,
Chad Shaw,
Shalini Jhangiani,
Philip M. Boone,
Mohammad K. Eldomery,
Ender Karaca,
Yavuz Bayram,
Asbjørg Stray-Pedersen ,
Donna Muzny,
Wu-Lin Charng
and 6 other authors
,
Donna Muzny,
Wu-Lin Charng
and 6 other authors
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Download from doi.orgMissing publications? Search for publications with a matching author name.