Publications:

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: ACTL7B: 387C>G; Ile129Met; rs147678961

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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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: ACTL7B: I129M; rs147678961

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: ACTL7B: I129M; rs147678961

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM6_ESM.xlsx, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: ACTL7B: 387C>G; I129M; rs147678961

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: ACTL7B: I129M; rs147678961

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

View BVdb publication page