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: ACE: R228C; rs141543325

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure.

Bmc Research Notes

Udosen, Brenda B; Soremekun, Opeyemi O; Ekenna, Chinwe C; Idowu Omotuyi, Olaposi O; Chikowore, Tinashe T; Nashiru, Oyekanmi O; Fatumo, Segun S

Publication Date: 2021-12-20

Variant appearance in text: ACE: R228C; rs141543325

PubMed Link: 34930451

Variant Present in the following documents:

• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 2
• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 3
• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 4
• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure.

Bmc Research Notes

Udosen, Brenda B; Soremekun, Opeyemi O; Ekenna, Chinwe C; Idowu Omotuyi, Olaposi O; Chikowore, Tinashe T; Nashiru, Oyekanmi O; Fatumo, Segun S

Publication Date: 2021-12-20

Variant appearance in text: ACE: R228C; rs141543325

PubMed Link: 34930451

Variant Present in the following documents:

• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 3
• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 2
• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 4
• 13104_2021_5879_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

Nature Communications

He, Chen C; Xu, Ke K; Zhu, Xiaoyan X; Dunphy, Paige S PS; Gudenas, Brian B; Lin, Wenwei W; Twarog, Nathaniel N; Hover, Laura D LD; Kwon, Chang-Hyuk CH; Kasper, Lawryn H LH; Zhang, Junyuan J; Li, Xiaoyu X; Dalton, James J; Jonchere, Barbara B; Mercer, Kimberly S KS; Currier, Duane G DG; Caufield, William W; Wang, Yingzhe Y; Xie, Jia J; Broniscer, Alberto A; Wetmore, Cynthia C; Upadhyaya, Santhosh A SA; Qaddoumi, Ibrahim I; Klimo, Paul P; Boop, Frederick F; Gajjar, Amar A; Zhang, Jinghui J; Orr, Brent A BA; Robinson, Giles W GW; Monje, Michelle M; Freeman Iii, Burgess B BB; Roussel, Martine F MF; Northcott, Paul A PA; Chen, Taosheng T; Rankovic, Zoran Z; Wu, Gang G; Chiang, Jason J; Tinkle, Christopher L CL; Shelat, Anang A AA; Baker, Suzanne J SJ

Publication Date: 2021-07-02

Variant appearance in text: ACE: R228C

PubMed Link: 34215733

Variant Present in the following documents:

• 41467_2021_24168_MOESM5_ESM.xlsx, sheet 7

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs141543325

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Plos One

Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016

Variant appearance in text: ACE: R228C; rs141543325

PubMed Link: 27249223

Variant Present in the following documents:

• pone.0150079.s002.xlsx, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: ACE: R228C

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: ACE: R228C

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 41

View BVdb publication page

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