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: ITGA2B: L147V; rs76066357

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology

Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K

Publication Date: 2021-09-27

Variant appearance in text: ITGA2B: Leu147Val; rs76066357

PubMed Link: 34580418

Variant Present in the following documents:

• 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One

Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2020

Variant appearance in text: ITGA2B: Leu147Val

PubMed Link: 32315351

Variant Present in the following documents:

• pone.0231728.s001.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: ITGA2B: L147V

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: rs76066357

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics

Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2018-07-06

Variant appearance in text: ITGA2B: Leu147Val

PubMed Link: 29980210

Variant Present in the following documents:

• 12920_2018_372_MOESM1_ESM.pdf

View BVdb publication page

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Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.

International Journal Of Molecular Sciences

Janicki, Piotr K PK; Eyileten, Ceren C; Ruiz-Velasco, Victor V; Sedeek, Khaled Anwar KA; Pordzik, Justyna J; Czlonkowska, Anna A; Kurkowska-Jastrzebska, Iwona I; Sugino, Shigekazu S; Imamura-Kawasawa, Yuka Y; Mirowska-Guzel, Dagmara D; Postula, Marek M

Publication Date: 2017-12-11

Variant appearance in text: ITGA2B: L147V; rs76066357

PubMed Link: 29232918

Variant Present in the following documents:

• Main text
• ijms-18-02678-s001.pdf
• ijms-18-02678.pdf

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: ITGA2B: 439C>G; Leu147Val

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.

American Journal Of Human Genetics

Eicher, John D JD; Chami, Nathalie N; Kacprowski, Tim T; Nomura, Akihiro A; Chen, Ming-Huei MH; Yanek, Lisa R LR; Tajuddin, Salman M SM; Schick, Ursula M UM; Slater, Andrew J AJ; Pankratz, Nathan N; Polfus, Linda L; Schurmann, Claudia C; Giri, Ayush A; Brody, Jennifer A JA; Lange, Leslie A LA; Manichaikul, Ani A; Hill, W David WD; Pazoki, Raha R; Elliot, Paul P; Evangelou, Evangelos E; Tzoulaki, Ioanna I; Gao, He H; Vergnaud, Anne-Claire AC; Mathias, Rasika A RA; Becker, Diane M DM; Becker, Lewis C LC; Burt, Amber A; Crosslin, David R DR; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Hernesniemi, Jussi J; Kähönen, Mika M; Raitoharju, Emma E; Mononen, Nina N; Raitakari, Olli T OT; Lehtimäki, Terho T; Cushman, Mary M; Zakai, Neil A NA; Nickerson, Deborah A DA; Raffield, Laura M LM; Quarells, Rakale R; Willer, Cristen J CJ; Peloso, Gina M GM; Abecasis, Goncalo R GR; Liu, Dajiang J DJ; , ; Deloukas, Panos P; Samani, Nilesh J NJ; Schunkert, Heribert H; Erdmann, Jeanette J; , ; , ; Fornage, Myriam M; Richard, Melissa M; Tardif, Jean-Claude JC; Rioux, John D JD; Dube, Marie-Pierre MP; de Denus, Simon S; Lu, Yingchang Y; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Smith, Albert Vernon AV; Harris, Tamara B TB; Launer, Lenore J LJ; Gudnason, Vilmundur V; Velez Edwards, Digna R DR; Torstenson, Eric S ES; Liu, Yongmei Y; Tracy, Russell P RP; Rotter, Jerome I JI; Rich, Stephen S SS; Highland, Heather M HM; Boerwinkle, Eric E; Li, Jin J; Lange, Ethan E; Wilson, James G JG; Mihailov, Evelin E; Mägi, Reedik R; Hirschhorn, Joel J; Metspalu, Andres A; Esko, Tõnu T; Vacchi-Suzzi, Caterina C; Nalls, Mike A MA; Zonderman, Alan B AB; Evans, Michele K MK; Engström, Gunnar G; Orho-Melander, Marju M; Melander, Olle O; O'Donoghue, Michelle L ML; Waterworth, Dawn M DM; Wallentin, Lars L; White, Harvey D HD; Floyd, James S JS; Bartz, Traci M TM; Rice, Kenneth M KM; Psaty, Bruce M BM; Starr, J M JM; Liewald, David C M DC; Hayward, Caroline C; Deary, Ian J IJ; Greinacher, Andreas A; Völker, Uwe U; Thiele, Thomas T; Völzke, Henry H; van Rooij, Frank J A FJ; Uitterlinden, André G AG; Franco, Oscar H OH; Dehghan, Abbas A; Edwards, Todd L TL; Ganesh, Santhi K SK; Kathiresan, Sekar S; Faraday, Nauder N; Auer, Paul L PL; Reiner, Alex P AP; Lettre, Guillaume G; Johnson, Andrew D AD

Publication Date: 2016-07-07

Variant appearance in text: rs76066357

PubMed Link: 27346686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs76066357

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ITGA2B: L147V; rs76066357

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ITGA2B: L147V; rs76066357

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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