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: SPG7: L695P; rs864622094

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.

Neurology. Genetics

Hewamadduma, Channa A CA; Hoggard, Nigel N; O'Malley, Ronan R; Robinson, Megan K MK; Beauchamp, Nick J NJ; Segamogaite, Ruta R; Martindale, Jo J; Rodgers, Tobias T; Rao, Ganesh G; Sarrigiannis, Ptolemaios P; Shanmugarajah, Priya P; Zis, Panagiotis P; Sharrack, Basil B; McDermott, Christopher J CJ; Shaw, Pamela J PJ; Hadjivassiliou, Marios M

Publication Date: 2018-12

Variant appearance in text: SPG7: 2084T>C; Leu695Pro

PubMed Link: 30533525

Variant Present in the following documents:

• Main text
• NG2018007690.pdf

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Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

Neurology. Genetics

Yang, Yi Y; Zhang, Lei L; Lynch, David R DR; Lukas, Thomas T; Ahmeti, Kreshnik K; Sleiman, Patrick M A PM; Ryan, Eanna E; Schadt, Kimberly A KA; Newman, Jordan H JH; Deng, Han-Xiang HX; Siddique, Nailah N; Siddique, Teepu T

Publication Date: 2016-04

Variant appearance in text: SPG7: L695P

PubMed Link: 27123479

Variant Present in the following documents:

• Main text
• NG2015001404.pdf

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