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: KEL: L597P; rs8176038

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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Blood groups of Neandertals and Denisova decrypted.

Plos One

Condemi, Silvana S; Mazières, Stéphane S; Faux, Pierre P; Costedoat, Caroline C; Ruiz-Linares, Andres A; Bailly, Pascal P; Chiaroni, Jacques J

Publication Date: 2021

Variant appearance in text: rs8176038

PubMed Link: 34320013

Variant Present in the following documents:

• pone.0254175.s005.xlsx, sheet 1

View BVdb publication page

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Blood group typing from whole-genome sequencing data.

Plos One

Paganini, Julien J; Nagy, Peter L PL; Rouse, Nicholas N; Gouret, Philippe P; Chiaroni, Jacques J; Picard, Chistophe C; Di Cristofaro, Julie J

Publication Date: 2020

Variant appearance in text: KEL: Leu597Pro

PubMed Link: 33180819

Variant Present in the following documents:

• Main text
• pone.0242168.pdf

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: KEL: 1790T>C; Leu597Pro; rs8176038

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications

Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J

Publication Date: 2020-09-28

Variant appearance in text: KEL: 1790T>C; Leu597Pro

PubMed Link: 32985499

Variant Present in the following documents:

• 41467_2020_18702_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variability of blood groups in southern Brazil.

Genetics And Molecular Biology

Waskow, Gabriela G; Rodrigues, Mirelen Moura de Oliveira MMO; Höher, Gabriela G; Onsten, Tor T; Lindenau, Juliana Dal-Ri JD; Fiegenbaum, Marilu M; Almeida, Silvana S

Publication Date: 2020

Variant appearance in text: KEL: 1790T>C; Leu597Pro; rs8176038

PubMed Link: 32478792

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-43-2-e20180327.pdf

View BVdb publication page

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Next-Generation Sequencing Technologies in Blood Group Typing.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Fürst, Daniel D; Tsamadou, Chrysanthi C; Neuchel, Christine C; Schrezenmeier, Hubert H; Mytilineos, Joannis J; Weinstock, Christof C

Publication Date: 2020-02

Variant appearance in text: KEL: 1790T>C; Leu597Pro; rs8176038

PubMed Link: 32110189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: KEL: L597P

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 63

View BVdb publication page

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Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

The Journal Of Molecular Diagnostics : Jmd

Volkova, Evgeniya E; Sippert, Emilia E; Liu, Meihong M; Mercado, Teresita T; Denomme, Gregory A GA; Illoh, Orieji O; Liu, Zhugong Z; Rios, Maria M; ,

Publication Date: 2019-05

Variant appearance in text: KEL: 1790T>C

PubMed Link: 30872185

Variant Present in the following documents:

• Main text

View BVdb publication page

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New insights into the pathogenicity of non-synonymous variants through multi-level analysis.

Scientific Reports

Sun, Hong H; Yu, Guangjun G

Publication Date: 2019-02-07

Variant appearance in text: KEL: 1790T>C

PubMed Link: 30733553

Variant Present in the following documents:

• Main text
• 41598_2018_Article_38189.pdf

View BVdb publication page

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Towards a Regional Registry of Extended Typed Blood Donors: Molecular Typing for Blood Group, Platelet and Granulocyte Antigens.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Portegys, Jan J; Rink, Gabi G; Bloos, Pia P; Scharberg, Erwin A EA; Klüter, Harald H; Bugert, Peter P

Publication Date: 2018-10

Variant appearance in text: rs8176038

PubMed Link: 30498411

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.

Transfusion

Montemayor-Garcia, Celina C; Karagianni, Panagiota P; Stiles, David A DA; Reese, Erika M EM; Smellie, Danielle A DA; Loy, Debrean A DA; Levy, Kimberly Y KY; Nwokocha, Magdalene M; Bueno, Marina U MU; Miller, Jeffery L JL; Klein, Harvey G HG

Publication Date: 2018-11

Variant appearance in text: KEL: 1790T>C

PubMed Link: 30312480

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low-Frequency Blood Group Antigens in Switzerland.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Gassner, Christoph C; Degenhardt, Frauke F; Meyer, Stefan S; Vollmert, Caren C; Trost, Nadine N; Neuenschwander, Kathrin K; Merki, Yvonne Y; Portmann, Claudia C; Sigurdardottir, Sonja S; Zorbas, Antigoni A; Engström, Charlotte C; Gottschalk, Jochen J; Amar El Dusouqui, Soraya S; Waldvogel-Abramovski, Sophie S; Rigal, Emmanuel E; Tissot, Jean-Daniel JD; Tinguely, Caroline C; Mauvais, Simon M SM; Sarraj, Amira A; Bessero, Daniel D; Stalder, Michele M; Infanti, Laura L; Buser, Andreas A; Sigle, Jörg J; Weingand, Tina T; Castelli, Damiano D; Braisch, Monica C MC; Thierbach, Jutta J; Heer, Sonja S; Schulzki, Thomas T; Krawczak, Michael M; Franke, Andre A; Frey, Beat M BM

Publication Date: 2018-07

Variant appearance in text: rs8176038

PubMed Link: 30283273

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Impact of Using Genotyped Reagent Red Blood Cells in Antibody Identification.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Scharberg, Erwin E; Rink, Gabi G; Portegys, Jan J; Rothenberger, Sina S; Gillhuber, Nicole N; Richter, Ekkehard E; Bugert, Peter P

Publication Date: 2018-07

Variant appearance in text: rs8176038

PubMed Link: 30283270

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs8176038

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KEL: L597P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: KEL: L597P; rs8176038

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: KEL: L597P; rs8176038

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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DNA-based methods in the immunohematology reference laboratory.

Transfusion And Apheresis Science : Official Journal Of The World Apheresis Association : Official Journal Of The European Society For Haemapheresis

Reid, Marion E ME; Denomme, Gregory A GA

Publication Date: 2011-02

Variant appearance in text: rs8176038

PubMed Link: 21257350

Variant Present in the following documents:

• Main text

View BVdb publication page

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