COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Watkin, Levi B ; Jessen, Birthe ; Wiszniewski, Wojciech ; Vece, Timothy J ; Jan, Max ; Sha, Youbao ; Thamsen, Maike ; Santos-Cortez, Regie L P ; Lee, Kwanghyuk ; Gambin, Tomasz ; Forbes, Lisa R ; Law, Christopher S ; Stray-Pedersen, Asbjørg ; Cheng, Mickie H ; Mace, Emily M ; Anderson, Mark S ; Liu, Dongfang ; Tang, Ling Fung ; Nicholas, Sarah K ; Nahmod, Karen ; Makedonas, George ; Canter, Debra L ; Kwok, Pui-Yan ; Hicks, John ; Jones, Kirk D ; Penney, Samantha ; Jhangiani, Shalini N ; Rosenblum, Michael D ; Dell, Sharon D ; Waterfield, Michael R ; Papa, Feroz R ; Muzny, Donna M ; Zaitlen, Noah ; Leal, Suzanne M ; Gonzaga-Jauregui, Claudia ; Boerwinkle, Eric ; Eissa, N Tony ; Gibbs, Richard A ; Lupski, James R ; Orange, Jordan S ; Shum, Anthony K

United States: Nature Publishing Group

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Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Karaca, Ender ; Weitzer, Stefan ; Pehlivan, Davut ; Shiraishi, Hiroshi ; Gogakos, Tasos ; Hanada, Toshikatsu ; Jhangiani, Shalini N. ; Wiszniewski, Wojciech ; Withers, Marjorie ; Campbell, Ian M. ; Erdin, Serkan ; Isikay, Sedat ; Franco, Luis M. ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Gelowani, Violet ; Hunter, Jill V. ; Yesil, Gozde ; Koparir, Erkan ; Yilmaz, Sarenur ; Brown, Miguel ; Briskin, Daniel ; Hafner, Markus ; Morozov, Pavel ; Farazi, Thalia A. ; Bernreuther, Christian ; Glatzel, Markus ; Trattnig, Siegfried ; Friske, Joachim ; Kronnerwetter, Claudia ; Bainbridge, Matthew N. ; Gezdirici, Alper ; Seven, Mehmet ; Muzny, Donna M. ; Boerwinkle, Eric ; Ozen, Mustafa ; Clausen, Tim ; Tuschl, Thomas ; Yuksel, Adnan ; Hess, Andreas ; Gibbs, Richard A. ; Martinez, Javier ; Penninger, Josef M. ; Lupski, James R.

United States: Elsevier Inc

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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Gonzaga-Jauregui, Claudia ; Harel, Tamar ; Gambin, Tomasz ; Kousi, Maria ; Griffin, Laurie B. ; Francescatto, Ludmila ; Ozes, Burcak ; Karaca, Ender ; Jhangiani, Shalini N. ; Bainbridge, Matthew N. ; Lawson, Kim S. ; Pehlivan, Davut ; Okamoto, Yuji ; Withers, Marjorie ; Mancias, Pedro ; Slavotinek, Anne ; Reitnauer, Pamela J. ; Goksungur, Meryem T. ; Shy, Michael ; Crawford, Thomas O. ; Koenig, Michel ; Willer, Jason ; Flores, Brittany N. ; Pediaditrakis, Igor ; Us, Onder ; Wiszniewski, Wojciech ; Parman, Yesim ; Antonellis, Anthony ; Muzny, Donna M. ; Katsanis, Nicholas ; Battaloglu, Esra ; Boerwinkle, Eric ; Gibbs, Richard A. ; Lupski, James R.

United States: Elsevier Inc

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur Barsh, Gregory S.

United States: Public Library of Science

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Gonzaga-Jauregui, Claudia ; Gamble, Candace N ; Yuan, Bo ; Penney, Samantha ; Jhangiani, Shalini ; Muzny, Donna M ; Gibbs, Richard A ; Lupski, James R ; Hecht, Jacqueline T

England: Nature Publishing Group

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Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Rainger, Joe ; Pehlivan, Davut ; Johansson, Stefan ; Bengani, Hemant ; Sanchez-Pulido, Luis ; Williamson, Kathleen A. ; Ture, Mehmet ; Barker, Heather ; Rosendahl, Karen ; Spranger, Jürgen ; Horn, Denise ; Meynert, Alison ; Floyd, James A.B. ; Prescott, Trine ; Anderson, Carl A. ; Rainger, Jacqueline K. ; Karaca, Ender ; Gonzaga-Jauregui, Claudia ; Jhangiani, Shalini ; Muzny, Donna M. ; Seawright, Anne ; Soares, Dinesh C. ; Kharbanda, Mira ; Murday, Victoria ; Finch, Andrew ; Hurles, Matthew ; FitzPatrick, David R. ; Al-Turki, Saeed ; Anderson, Carl ; Barroso, Inês ; Beales, Philip ; Bentham, Jamie ; Bhattacharya, Shoumo ; Carss, Keren ; Chatterjee, Krishna ; Cirak, Sebhattin ; Cosgrove, Catherine ; Daly, Allan ; Floyd, Jamie ; Franklin, Chris ; Futema, Marta ; Humphries, Steve ; McCarthy, Shane ; Mitchison, Hannah ; Muntoni, Francesco ; Onoufriadis, Alexandros ; Parker, Victoria ; Payne, Felicity ; Plagnol, Vincent ; Raymond, Lucy ; Savage, David ; Scambler, Peter ; Schmidts, Miriam ; Semple, Robert ; Serra, Eva ; Stalker, Jim ; van Kogelenberg, Margriet ; Vijayarangakannan, Parthiban ; Walter, Klaudia ; Wood, Gretta ; Gibbs, Richard A. ; van Heyningen, Veronica ; Taylor, Martin S. ; Yakut, Tahsin ; Knappskog, Per M. ; Hurles, Matthew E. ; Ponting, Chris P. ; Lupski, James R. ; Houge, Gunnar ; FitzPatrick, David R.

United States: Elsevier Inc

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Whole‐Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

Gonzaga‐Jauregui, Claudia ; Mir, Sabina ; Penney, Samantha ; Jhangiani, Shalini ; Midgen, Craig ; Finegold, Milton ; Muzny, Donna M. ; Wang, Min ; Bacino, Carlos A. ; Gibbs, Richard A. ; Lupski, James R. ; Kellermayer, Richard ; Hanchard, Neil A.

United States

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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

Bayram, Yavuz ; Pehlivan, Davut ; Karaca, Ender ; Gambin, Tomasz ; Jhangiani, Shalini N. ; Erdin, Serkan ; Gonzaga-Jauregui, Claudia ; Wiszniewski, Wojciech ; Muzny, Donna ; Elcioglu, Nursel H. ; Yildirim, M. Selman ; Bozkurt, Banu ; Zamani, Ayse Gul ; Boerwinkle, Eric ; Gibbs, Richard A. ; Lupski, James R.

United States: Blackwell Publishing Ltd

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Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

Boone, Philip M. ; Yuan, Bo ; Gu, Shen ; Ma, Zhiwei ; Gambin, Tomasz ; Gonzaga‐Jauregui, Claudia ; Jain, Mahim ; Murdock, Todd J. ; White, Janson J. ; Jhangiani, Shalini N. ; Walker, Kimberly ; Wang, Qiaoyan ; Muzny, Donna M. ; Gibbs, Richard A. ; Hejtmancik, J. Fielding ; Lupski, James R. ; Posey, Jennifer E. ; Lewis, Richard A.

United States: John Wiley & Sons, Inc

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Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

Gonzaga-Jauregui, Claudia ; Harel, Tamar ; Gambin, Tomasz ; Kousi, Maria ; Griffin, Laurie B. ; Francescatto, Ludmila ; Ozes, Burcak ; Karaca, Ender ; Jhangiani, Shalini ; Bainbridge, Matthew N. ; Lawson, Kim S. ; Pehlivan, Davut ; Okamoto, Yuji ; Withers, Marjorie ; Mancias, Pedro ; Slavotinek, Anne ; Reitnauer, Pamela J ; Goksungur, Meryem T. ; Shy, Michael ; Crawford, Thomas O. ; Koenig, Michel ; Willer, Jason ; Flores, Brittany N. ; Pediaditrakis, Igor ; Us, Onder ; Wiszniewski, Wojciech ; Parman, Yesim ; Antonellis, Anthony ; Muzny, Donna M. ; Katsanis, Nicholas ; Battaloglu, Esra ; Boerwinkle, Eric ; Gibbs, Richard A. ; Lupski, James R.

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