Publications:

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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: FIG4: L17P; rs587777713

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 3

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Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.

Elife

Gilley, Jonathan J; Jackson, Oscar O; Pipis, Menelaos M; Estiar, Mehrdad A MA; Al-Chalabi, Ammar A; Danzi, Matt C MC; van Eijk, Kristel R KR; Goutman, Stephen A SA; Harms, Matthew B MB; Houlden, Henry H; Iacoangeli, Alfredo A; Kaye, Julia J; Lima, Leandro L; , ; Ravits, John J; Rouleau, Guy A GA; Schüle, Rebecca R; Xu, Jishu J; Züchner, Stephan S; Cooper-Knock, Johnathan J; Gan-Or, Ziv Z; Reilly, Mary M MM; Coleman, Michael P MP

Publication Date: 2021-11-19

Variant appearance in text: CMT4J: L17P

PubMed Link: 34796871

Variant Present in the following documents:

• Main text
• elife-70905.pdf

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Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.

Elife

Gilley, Jonathan J; Jackson, Oscar O; Pipis, Menelaos M; Estiar, Mehrdad A MA; Al-Chalabi, Ammar A; Danzi, Matt C MC; van Eijk, Kristel R KR; Goutman, Stephen A SA; Harms, Matthew B MB; Houlden, Henry H; Iacoangeli, Alfredo A; Kaye, Julia J; Lima, Leandro L; Ravits, John J; Rouleau, Guy A GA; Schüle, Rebecca R; Xu, Jishu J; Züchner, Stephan S; Cooper-Knock, Johnathan J; Gan-Or, Ziv Z; Reilly, Mary M MM; Coleman, Michael P MP

Publication Date: 2021-11-19

Variant appearance in text: CMT4J: L17P

PubMed Link: 34796871

Variant Present in the following documents:

• Main text
• elife-70905.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: FIG4: 50T>C; Leu17Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.

Journal Of Neuropathology And Experimental Neurology

Gentil, Benoit J BJ; O'Ferrall, Erin E; Chalk, Colin C; Santana, Luis F LF; Durham, Heather D HD; Massie, Rami R

Publication Date: 2017-09-01

Variant appearance in text: FIG4: L17P

PubMed Link: 28859335

Variant Present in the following documents:

• Main text

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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Brain : A Journal Of Neurology

Nicholson, Garth G; Lenk, Guy M GM; Reddel, Stephen W SW; Grant, Adrienne E AE; Towne, Charles F CF; Ferguson, Cole J CJ; Simpson, Ericka E; Scheuerle, Angela A; Yasick, Michelle M; Hoffman, Stuart S; Blouin, Randall R; Brandt, Carla C; Coppola, Giovanni G; Biesecker, Leslie G LG; Batish, Sat D SD; Meisler, Miriam H MH

Publication Date: 2011-07

Variant appearance in text: FIG4: L17P

PubMed Link: 21705420

Variant Present in the following documents:

• Main text

View BVdb publication page

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