All papers authored by Jennifer Posey
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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
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,
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
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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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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
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Samantha M. Baxter ,
Jennifer E. Posey ,
Nicole J. Lake,
Nara Sobreira,
Jessica X. Chong ,
Steven Buyske ,
Elizabeth E. Blue ,
Lisa H. Chadwick,
Zeynep H. Coban-Akdemir ,
Kimberly F. Doheny ,
Colleen P. Davis,
Monkol Lek,
Christopher Wellington,
Shalini N. Jhangiani,
Mark Gerstein
and 227 other authors
,
Jennifer E. Posey ,
Nicole J. Lake,
Nara Sobreira,
Jessica X. Chong ,
Steven Buyske ,
Elizabeth E. Blue ,
Lisa H. Chadwick,
Zeynep H. Coban-Akdemir ,
Kimberly F. Doheny ,
Colleen P. Davis,
Monkol Lek,
Christopher Wellington,
Shalini N. Jhangiani,
Mark Gerstein
and 227 other authors
Centers for Mendelian Genomics: A decade of facilitating gene discovery
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2021
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
Linyan Meng ,
Pirjo Isohanni ,
Yunru Shao,
Brett H. Graham,
Scott E. Hickey,
Stephanie Brooks,
Anu Suomalainen,
Pascal Joset,
Katharina Steindl,
Anita Rauch,
Annette Hackenberg,
Frances A. High,
Amy Armstrong‐Javors,
Niccolò E. Mencacci,
Paulina Gonzàlez‐Latapi
and 30 other authors
,
Pirjo Isohanni ,
Yunru Shao,
Brett H. Graham,
Scott E. Hickey,
Stephanie Brooks,
Anu Suomalainen,
Pascal Joset,
Katharina Steindl,
Anita Rauch,
Annette Hackenberg,
Frances A. High,
Amy Armstrong‐Javors,
Niccolò E. Mencacci,
Paulina Gonzàlez‐Latapi
and 30 other authors
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
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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
Download from api.wiley.com
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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2017
Jennifer E. Posey ,
Rebecca Martinez,
Jeremy E. Lankford,
James R. Lupski,
Mohammed T. Numan,
Ian J. Butler
,
Rebecca Martinez,
Jeremy E. Lankford,
James R. Lupski,
Mohammed T. Numan,
Ian J. Butler
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance
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