Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APOC2: 122A>C; Lys41Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

International Journal Of Molecular Sciences

Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M

Publication Date: 2022-12-17

Variant appearance in text: APOC2: 122A>C; K41T; rs120074114

PubMed Link: 36555767

Variant Present in the following documents:

• ijms-23-16127.pdf

View BVdb publication page

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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: APOC2: K41T; rs120074114

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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Deregulation of apolipoprotein C2 gene in cancer: A potential metabolic vulnerability.

Clinical And Translational Medicine

Liu, Yuqiao Y; Meng, Yiting Y; Zhang, Tian T; Alachkar, Houda H

Publication Date: 2021-06

Variant appearance in text: APOC2: 122A>C; K41T

PubMed Link: 34185418

Variant Present in the following documents:

View BVdb publication page

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: APOC2: K41T

PubMed Link: 33133066

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: APOC2: 122A>C; Lys41Thr

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Drug screening approach combines epigenetic sensitization with immunochemotherapy in cancer.

Clinical Epigenetics

Facciotto, Chiara C; Casado, Julia J; Turunen, Laura L; Leivonen, Suvi-Katri SK; Tumiati, Manuela M; Rantanen, Ville V; Kauppi, Liisa L; Lehtonen, Rainer R; Leppä, Sirpa S; Wennerberg, Krister K; Hautaniemi, Sampsa S

Publication Date: 2019-12-11

Variant appearance in text: APOC2: 122A>C; K41T; rs120074114

PubMed Link: 31829282

Variant Present in the following documents:

• 13148_2019_781_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: APOC2: 122A>C; Lys41Thr; rs120074114

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: APOC2: 122A>C; Lys41Thr; rs120074114

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: APOC2: K41T; rs120074114

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation.

Kidney International Reports

Sethi, Sanjeev S; Dasari, Surendra S; Plaisier, Emmanuelle E; Ronco, Pierre P; Nasr, Samih H SH; Brocheriou, Isabelle I; Theis, Jason D JD; Vrana, Julie A JA; Zimmermann, Michael T MT; Quint, Patrick S PS; McPhail, Ellen D ED; Kurtin, Paul J PJ

Publication Date: 2018-09

Variant appearance in text: APOC2: 122A>C; Lys41Thr

PubMed Link: 30197986

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.

Atherosclerosis

Wolska, Anna A; Dunbar, Richard L RL; Freeman, Lita A LA; Ueda, Masako M; Amar, Marcelo J MJ; Sviridov, Denis O DO; Remaley, Alan T AT

Publication Date: 2017-12

Variant appearance in text: APOC2: K41T

PubMed Link: 29100061

Variant Present in the following documents:

• Main text

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: APOC2: K41T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Plos One

Di Filippo, Mathilde M; Marçais, Christophe C; Charrière, Sybil S; Marmontel, Oriane O; Broyer, Martine M; Delay, Mireille M; Merlin, Micheline M; Nollace, Axel A; Valéro, René R; Lagarde, Michel M; Pruneta-Deloche, Valérie V; Moulin, Philippe P; Sassolas, Agnès A

Publication Date: 2014

Variant appearance in text: APOC2: K41T

PubMed Link: 24788417

Variant Present in the following documents:

• Main text
• pone.0096482.pdf

View BVdb publication page

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