Publications:

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: FBN1: G2003R

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Molecular Genetics & Genomic Medicine

Lin, Mao M; Liu, Zhenlei Z; Liu, Gang G; Zhao, Sen S; Li, Chao C; Chen, Weisheng W; Coban Akdemir, Zeynep Z; Lin, Jiachen J; Song, Xiaofei X; Wang, Shengru S; Xu, Qiming Q; Zhao, Yanxue Y; Wang, Lianlei L; Zhang, Yuanqiang Y; Yan, Zihui Z; Liu, Sen S; Liu, Jiaqi J; Chen, Yixin Y; Zuo, Yuzhi Y; Yang, Xu X; Sun, Tianshu T; Yang, Xin-Zhuang XZ; Niu, Yuchen Y; Li, Xiaoxin X; You, Wesley W; Qiu, Bintao B; Ding, Chen C; Liu, Pengfei P; Zhang, Shuyang S; Carvalho, Claudia M B CMB; Posey, Jennifer E JE; Qiu, Guixing G; , ; Lupski, James R JR; Wu, Zhihong Z; Zhang, Jianguo J; Wu, Nan N

Publication Date: 2020-01

Variant appearance in text: FBN1: Gly2003Arg

PubMed Link: 31774634

Variant Present in the following documents:

• Main text
• MGG3-8-e1023.pdf

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Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

The Journal Of Bone And Joint Surgery. American Volume

Haller, Gabe G; Alvarado, David M DM; Willing, Marcia C MC; Braverman, Alan C AC; Bridwell, Keith H KH; Kelly, Michael M; Lenke, Lawrence G LG; Luhmann, Scott J SJ; Gurnett, Christina A CA; Dobbs, Matthew B MB

Publication Date: 2015-09-02

Variant appearance in text: FBN1: G2003R

PubMed Link: 26333736

Variant Present in the following documents:

• Main text

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Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Human Molecular Genetics

Buchan, Jillian G JG; Alvarado, David M DM; Haller, Gabe E GE; Cruchaga, Carlos C; Harms, Matthew B MB; Zhang, Tianxiao T; Willing, Marcia C MC; Grange, Dorothy K DK; Braverman, Alan C AC; Miller, Nancy H NH; Morcuende, Jose A JA; Tang, Nelson Leung-Sang NL; Lam, Tsz-Ping TP; Ng, Bobby Kin-Wah BK; Cheng, Jack Chun-Yiu JC; Dobbs, Matthew B MB; Gurnett, Christina A CA

Publication Date: 2014-10-01

Variant appearance in text: FBN1: Gly2003Arg

PubMed Link: 24833718

Variant Present in the following documents:

• Main text

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