Publications:

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Applications of single-cell RNA sequencing in drug discovery and development.

Nature Reviews. Drug Discovery

Van de Sande, Bram B; Lee, Joon Sang JS; Mutasa-Gottgens, Euphemia E; Naughton, Bart B; Bacon, Wendi W; Manning, Jonathan J; Wang, Yong Y; Pollard, Jack J; Mendez, Melissa M; Hill, Jon J; Kumar, Namit N; Cao, Xiaohong X; Chen, Xiao X; Khaladkar, Mugdha M; Wen, Ji J; Leach, Andrew A; Ferran, Edgardo E

Publication Date: 2023-04-28

Variant appearance in text: rs268

PubMed Link: 37117846

Variant Present in the following documents:

• 41573_2023_Article_688.pdf

View BVdb publication page

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Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Nature Medicine

Rosenson, Robert S RS; Gaudet, Daniel D; Ballantyne, Christie M CM; Baum, Seth J SJ; Bergeron, Jean J; Kershaw, Erin E EE; Moriarty, Patrick M PM; Rubba, Paolo P; Whitcomb, David C DC; Banerjee, Poulabi P; Gewitz, Andrew A; Gonzaga-Jauregui, Claudia C; McGinniss, Jennifer J; Ponda, Manish P MP; Pordy, Robert R; Zhao, Jian J; Rader, Daniel J DJ

Publication Date: 2023-03-06

Variant appearance in text: LPL: N318S

PubMed Link: 36879129

Variant Present in the following documents:

• 41591_2023_2222_MOESM1_ESM.pdf

View BVdb publication page

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Screening program for familial hyperchylomicronemia syndrome detection: Experience of a university health system.

Archives Of Endocrinology And Metabolism

Masson, Walter W; Barbagelata, Leandro L; Fleitas, Milagros M; Herzkovich, Nicole N; Kerschner, Eliana E; Rossi, Emiliano E; Siniawski, Daniel D; Ami, María V MV; Nogueira, Juan P JP

Publication Date: 2023-02-07

Variant appearance in text: LPL: 953A>G; N318S

PubMed Link: 36748937

Variant Present in the following documents:

• Main text
• 2359-4292-aem-67-03-0408.pdf

View BVdb publication page

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Genetic Predictors of the Development of Complications after Coronary Stenting.

Journal Of Personalized Medicine

Taizhanova, Dana D; Kalimbetova, Akerke A; Bodaubay, Roza R; Toleuova, Aliya A; Toiynbekova, Rakhima R; Beysenbekova, Zhazira Z; Visternichan, Olga O; Tauesheva, Zauresh Z; Kadyrova, Irina I; Babenko, Dmitriy D; Akhmaltdinova, Lyudmila L; Kolesnichenko, Svetlana S; Kolesnikova, Yevgeniya Y; Avdienko, Olga V OV; Akilzhanova, Ainur A; Gerotziafas, Grigorios T GT

Publication Date: 2022-12-22

Variant appearance in text: rs268

PubMed Link: 36675675

Variant Present in the following documents:

• jpm-13-00014.pdf

View BVdb publication page

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Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

International Journal Of Molecular Sciences

Rodríguez-Gutiérrez, Perla Graciela PG; Colima-Fausto, Ana Gabriela AG; Zepeda-Olmos, Paola Montserrat PM; Hernández-Flores, Teresita de Jesús TJ; González-García, Juan Ramón JR; Magaña-Torres, María Teresa MT

Publication Date: 2022-12-27

Variant appearance in text: LPL: N318S

PubMed Link: 36613909

Variant Present in the following documents:

• Main text
• ijms-24-00465.pdf

View BVdb publication page

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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Nature Genetics

Aragam, Krishna G KG; Jiang, Tao T; Goel, Anuj A; Kanoni, Stavroula S; Wolford, Brooke N BN; Atri, Deepak S DS; Weeks, Elle M EM; Wang, Minxian M; Hindy, George G; Zhou, Wei W; Grace, Christopher C; Roselli, Carolina C; Marston, Nicholas A NA; Kamanu, Frederick K FK; Surakka, Ida I; Venegas, Loreto Muñoz LM; Sherliker, Paul P; Koyama, Satoshi S; Ishigaki, Kazuyoshi K; Åsvold, Bjørn O BO; Brown, Michael R MR; Brumpton, Ben B; de Vries, Paul S PS; Giannakopoulou, Olga O; Giardoglou, Panagiota P; Gudbjartsson, Daniel F DF; Güldener, Ulrich U; Haider, Syed M Ijlal SMI; Helgadottir, Anna A; Ibrahim, Maysson M; Kastrati, Adnan A; Kessler, Thorsten T; Kyriakou, Theodosios T; Konopka, Tomasz T; Li, Ling L; Ma, Lijiang L; Meitinger, Thomas T; Mucha, Sören S; Munz, Matthias M; Murgia, Federico F; Nielsen, Jonas B JB; Nöthen, Markus M MM; Pang, Shichao S; Reinberger, Tobias T; Schnitzler, Gavin G; Smedley, Damian D; Thorleifsson, Gudmar G; von Scheidt, Moritz M; Ulirsch, Jacob C JC; , ; , ; Arnar, David O DO; Burtt, Noël P NP; Costanzo, Maria C MC; Flannick, Jason J; Ito, Kaoru K; Jang, Dong-Keun DK; Kamatani, Yoichiro Y; Khera, Amit V AV; Komuro, Issei I; Kullo, Iftikhar J IJ; Lotta, Luca A LA; Nelson, Christopher P CP; Roberts, Robert R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Webb, Thomas R TR; Baras, Aris A; Björkegren, Johan L M JLM; Boerwinkle, Eric E; Dedoussis, George G; Holm, Hilma H; Hveem, Kristian K; Melander, Olle O; Morrison, Alanna C AC; Orho-Melander, Marju M; Rallidis, Loukianos S LS; Ruusalepp, Arno A; Sabatine, Marc S MS; Stefansson, Kari K; Zalloua, Pierre P; Ellinor, Patrick T PT; Farrall, Martin M; Danesh, John J; Ruff, Christian T CT; Finucane, Hilary K HK; Hopewell, Jemma C JC; Clarke, Robert R; Gupta, Rajat M RM; Erdmann, Jeanette J; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; Willer, Cristen J CJ; Deloukas, Panos P; Kathiresan, Sekar S; Butterworth, Adam S AS; ,

Publication Date: 2022-12

Variant appearance in text: rs268

PubMed Link: 36474045

Variant Present in the following documents:

• 41588_2022_Article_1233.pdf

View BVdb publication page

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Non-alcoholic fatty liver disease across endocrinopathies: Interaction with sex hormones.

Frontiers In Endocrinology

Arefhosseini, Sara S; Ebrahimi-Mameghani, Mehrangiz M; Najafipour, Farzad F; Tutunchi, Helda H

Publication Date: 2022

Variant appearance in text: rs268

PubMed Link: 36419770

Variant Present in the following documents:

• Main text
• fendo-13-1032361.pdf

View BVdb publication page

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Structural analysis of Red1 as a conserved scaffold of the RNA-targeting MTREC/PAXT complex.

Nature Communications

Foucher, Anne-Emmanuelle AE; Touat-Todeschini, Leila L; Juarez-Martinez, Ariadna B AB; Rakitch, Auriane A; Laroussi, Hamida H; Karczewski, Claire C; Acajjaoui, Samira S; Soler-López, Montserrat M; Cusack, Stephen S; Mackereth, Cameron D CD; Verdel, André A; Kadlec, Jan J

Publication Date: 2022-08-24

Variant appearance in text: rs268

PubMed Link: 36002457

Variant Present in the following documents:

• 41467_2022_Article_32542.pdf

View BVdb publication page

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Gene-diet interactions and cardiovascular diseases: a systematic review of observational and clinical trials.

Bmc Cardiovascular Disorders

Roa-Díaz, Zayne M ZM; Teuscher, Julian J; Gamba, Magda M; Bundo, Marvin M; Grisotto, Giorgia G; Wehrli, Faina F; Gamboa, Edna E; Rojas, Lyda Z LZ; Gómez-Ochoa, Sergio A SA; Verhoog, Sanne S; Vargas, Manuel Frias MF; Minder, Beatrice B; Franco, Oscar H OH; Dehghan, Abbas A; Pazoki, Raha R; Marques-Vidal, Pedro P; Muka, Taulant T

Publication Date: 2022-08-20

Variant appearance in text: rs268

PubMed Link: 35987633

Variant Present in the following documents:

• Main text
• 12872_2022_Article_2808.pdf

View BVdb publication page

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Impact of Lipid Genetic Risk Score and Saturated Fatty Acid Intake on Central Obesity in an Asian Indian Population.

Nutrients

Wuni, Ramatu R; Adela Nathania, Evelyn E; Ayyappa, Ashok K AK; Lakshmipriya, Nagarajan N; Ramya, Kandaswamy K; Gayathri, Rajagopal R; Geetha, Gunasekaran G; Anjana, Ranjit Mohan RM; Kuhnle, Gunter G C GGC; Radha, Venkatesan V; Mohan, Viswanathan V; Sudha, Vasudevan V; Vimaleswaran, Karani Santhanakrishnan KS

Publication Date: 2022-06-29

Variant appearance in text: rs268

PubMed Link: 35807893

Variant Present in the following documents:

• Main text
• nutrients-14-02713.pdf

View BVdb publication page

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes

Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A

Publication Date: 2022-06-01

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 35741760

Variant Present in the following documents:

• Main text
• genes-13-00999.pdf

View BVdb publication page

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Current Perspectives on Nonalcoholic Fatty Liver Disease in Women with Polycystic Ovary Syndrome.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy

Wang, Dongxu D; He, Bing B

Publication Date: 2022

Variant appearance in text: rs268

PubMed Link: 35494531

Variant Present in the following documents:

• Main text
• dmso-15-1281.pdf

View BVdb publication page

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Empowering consumers to PREVENT diet-related diseases through OMICS sciences (PREVENTOMICS): protocol for a parallel double-blinded randomised intervention trial to investigate biomarker-based nutrition plans for weight loss.

Bmj Open

Aldubayan, Mona Adnan MA; Pigsborg, Kristina K; Gormsen, Sophia M O SMO; Serra, Francisca F; Palou, Mariona M; Mena, Pedro P; Wetzels, Mart M; Calleja, Alberto A; Caimari, Antoni A; Del Bas, Josep J; Gutierrez, Biotza B; Magkos, Faidon F; Hjorth, Mads Fiil MF

Publication Date: 2022-03-29

Variant appearance in text: rs268

PubMed Link: 35351696

Variant Present in the following documents:

• Main text
• bmjopen-2021-051285.draft_revisions.pdf
• bmjopen-2021-051285.pdf

View BVdb publication page

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Apolipoprotein A-V is a potential target for treating coronary artery disease: evidence from genetic and metabolomic analyses.

Journal Of Lipid Research

Ibi, Dorina D; Boot, Manon M; Dollé, Martijn E T MET; Jukema, J Wouter JW; Rosendaal, Frits R FR; Christodoulides, Constantinos C; Neville, Matt J MJ; Koivula, Robert R; Rensen, Patrick C N PCN; Karpe, Fredrik F; Noordam, Raymond R; Willems van Dijk, Ko K

Publication Date: 2022-05

Variant appearance in text: rs268

PubMed Link: 35278410

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine

Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL

Publication Date: 2022-03-03

Variant appearance in text: LPL: 953A>G; Asn318Ser; rs268

PubMed Link: 35241092

Variant Present in the following documents:

• Main text
• 12967_2022_3314_MOESM2_ESM.pdf
• 12967_2022_Article_3314.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: LPL: N318S; rs268

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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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: LPL: N318S

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s6_supps6.xls, sheet 1

View BVdb publication page

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Lipogenesis inhibitors: therapeutic opportunities and challenges.

Nature Reviews. Drug Discovery

Batchuluun, Battsetseg B; Pinkosky, Stephen L SL; Steinberg, Gregory R GR

Publication Date: 2022-04

Variant appearance in text: rs268

PubMed Link: 35031766

Variant Present in the following documents:

• 41573_2021_Article_367.pdf

View BVdb publication page

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A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.

Frontiers In Genetics

Dos Santos, Carolina Maria de Araújo CMA; Heller, Ana Helena AH; Pena, Heloisa Barbosa HB; Pena, Sérgio Danilo Junho SDJ

Publication Date: 2021

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 34759951

Variant Present in the following documents:

• Main text
• fgene-12-685123.pdf

View BVdb publication page

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Association of Metabolic Syndrome with Aerobic Exercise and LPL rs3779788 Polymorphism in Taiwan Biobank Individuals.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy

Hsu, Chun-Sheng CS; Chang, Shin-Tsu ST; Nfor, Oswald Ndi ON; Lee, Kuan-Jung KJ; Ho, Chien-Chang CC; Liu, Chuan-Ching CC; Lee, Shiuan-Shinn SS; Liaw, Yung-Po YP

Publication Date: 2021

Variant appearance in text: rs268

PubMed Link: 34548800

Variant Present in the following documents:

• Main text
• dmso-14-3997.pdf

View BVdb publication page

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Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.

Genes

Zuurbier, Linda C LC; Defesche, Joep C JC; Wiegman, Albert A

Publication Date: 2021-07-29

Variant appearance in text: LPL: Asn318Ser

PubMed Link: 34440342

Variant Present in the following documents:

• Main text
• genes-12-01168.pdf

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Nature Communications

Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS

Publication Date: 2021-06-09

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 34108472

Variant Present in the following documents:

• 41467_2021_23556_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications

Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K

Publication Date: 2020-12-18

Variant appearance in text: LPL: N318S

PubMed Link: 33339817

Variant Present in the following documents:

• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 3
• 41467_2020_Article_20086.pdf
• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 12
• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 15

View BVdb publication page

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The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics

Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P

Publication Date: 2021-02

Variant appearance in text: LPL: N318S

PubMed Link: 33222100

Variant Present in the following documents:

• 13353_2020_594_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Variants of Lipoprotein Lipase and Regulatory Factors Associated with Alzheimer's Disease Risk.

International Journal Of Molecular Sciences

D Bruce, Kimberley K; Tang, Maoping M; Reigan, Philip P; H Eckel, Robert R

Publication Date: 2020-11-06

Variant appearance in text: rs268

PubMed Link: 33172164

Variant Present in the following documents:

• Main text
• ijms-21-08338.pdf

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Association of Four Missense SNPs with Preeclampsia in Saudi Women.

Saudi Journal Of Medicine & Medical Sciences

Aljuaid, Nada Mohammed NM; Muharram, Ebtesam Ibrahim EI; Loqtum, Nouf Nasser NN; Al-Amoudi, Reem Mohammed RM; AlMahdi, Hadiah Bassam HB; Salama, Mohammed Assem MA; Banaganapalli, Babajan B; Shaik, Noor Ahmad NA; Elango, Ramu R; Bondagji, Nabeel Salem NS

Publication Date: 2020

Variant appearance in text: LPL: 953A>G; rs268

PubMed Link: 32952508

Variant Present in the following documents:

• Main text
• SJMMS-8-174.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease

Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV

Publication Date: 2020-05-14

Variant appearance in text: LPL: Asn318Ser

PubMed Link: 32423031

Variant Present in the following documents:

• Main text
• jcdd-07-00016.pdf

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Quantile-dependent expressivity of postprandial lipemia.

Plos One

Williams, Paul T PT

Publication Date: 2020

Variant appearance in text: rs268

PubMed Link: 32101585

Variant Present in the following documents:

• Main text
• pone.0229495.pdf

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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: LPL: 953A>G; Asn318Ser

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Determinants of Lipids and Cardiovascular Disease Outcomes: A Wide-Angled Mendelian Randomization Investigation.

Circulation. Genomic And Precision Medicine

Allara, Elias E; Morani, Gabriele G; Carter, Paul P; Gkatzionis, Apostolos A; Zuber, Verena V; Foley, Christopher N CN; Rees, Jessica M B JMB; Mason, Amy M AM; Bell, Steven S; Gill, Dipender D; Lindström, Sara S; Butterworth, Adam S AS; Di Angelantonio, Emanuele E; Peters, James J; Burgess, Stephen S; ,

Publication Date: 2019-12

Variant appearance in text: rs268

PubMed Link: 31756303

Variant Present in the following documents:

• hcg-12-e002711-s001.pdf

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: LPL: N318S; rs268

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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The Contribution of Lipids to the Interindividual Response of Vitamin K Biomarkers to Vitamin K Supplementation.

Molecular Nutrition & Food Research

Kelly, Jennifer M JM; Ordovas, Jose M JM; Matuszek, Gregory G; Smith, Caren E CE; Huggins, Gordon S GS; Dashti, Hassan S HS; Ichikawa, Reiko R; Booth, Sarah L SL

Publication Date: 2019-12

Variant appearance in text: rs268

PubMed Link: 31533195

Variant Present in the following documents:

• Main text

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Non-additive effects of ACVR2A in preeclampsia in a Philippine population.

Bmc Pregnancy And Childbirth

Amosco, Melissa D MD; Tavera, Gloria R GR; Villar, Van Anthony M VAM; Naniong, Justin Michael A JMA; David-Bustamante, Lara Marie G LMG; Williams, Scott M SM; Jose, Pedro A PA; Palmes-Saloma, Cynthia P CP

Publication Date: 2019-01-08

Variant appearance in text: rs268

PubMed Link: 30621627

Variant Present in the following documents:

• Main text
• 12884_2018_Article_2152.pdf

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Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research

Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ

Publication Date: 2018-12

Variant appearance in text: LPL: N318S; rs268

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

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Lipoprotein lipase gene polymorphisms as risk factors for stroke: a computational and meta-analysis.

Iranian Journal Of Basic Medical Sciences

Nejati, Majid M; Atlasi, Mohammad Ali MA; Karimian, Mohammad M; Nikzad, Hossein H; Azami Tameh, Abolfazl A

Publication Date: 2018-07

Variant appearance in text: LPL: Asn318Ser; rs268

PubMed Link: 30140409

Variant Present in the following documents:

• Main text

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Combination of Genetic Markers and Age Effectively Facilitates the Identification of People with High Risk of Preeclampsia in the Han Chinese Population.

Biomed Research International

Zhou, Lu L; Hui, Xinjie X; Yuan, Huijuan H; Liu, Yinglin Y; Wang, Yejun Y

Publication Date: 2018

Variant appearance in text: rs268

PubMed Link: 30112393

Variant Present in the following documents:

• Main text

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: rs268

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

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Methods for 2-Deoxyglycoside Synthesis.

Chemical Reviews

Bennett, Clay S CS; Galan, M Carmen MC

Publication Date: 2018-09-12

Variant appearance in text: rs268

PubMed Link: 29953219

Variant Present in the following documents:

• cr7b00731.pdf

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Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Journal Of Clinical Laboratory Analysis

Qin, Yuan-Yuan YY; Wei, Ai-Qiu AQ; Shan, Qing-Wen QW; Xian, Xiao-Ying XY; Wu, Yang-Yang YY; Liao, Lin L; Yan, Jie J; Lai, Zhan-Feng ZF; Lin, Fa-Quan FQ

Publication Date: 2018-07

Variant appearance in text: LPL: N318S

PubMed Link: 29479812

Variant Present in the following documents:

• Main text

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Associations between LPL gene polymorphisms and coronary artery disease: evidence based on an updated and cumulative meta-analysis.

Bioscience Reports

Ma, Wen-Qi WQ; Wang, Ying Y; Han, Xi-Qiong XQ; Zhu, Yi Y; Liu, Nai-Feng NF

Publication Date: 2018-02-19

Variant appearance in text: rs268

PubMed Link: 29459423

Variant Present in the following documents:

• Main text

View BVdb publication page

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Three-dimensional printing in congenital heart disease: A systematic review.

Journal Of Medical Radiation Sciences

Lau, Ivan I; Sun, Zhonghua Z

Publication Date: 2018-09

Variant appearance in text: rs268

PubMed Link: 29453808

Variant Present in the following documents:

• Main text

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The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne

Reuter, Miriam S MS; Walker, Susan S; Thiruvahindrapuram, Bhooma B; Whitney, Joe J; Cohn, Iris I; Sondheimer, Neal N; Yuen, Ryan K C RKC; Trost, Brett B; Paton, Tara A TA; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Wintle, Richard F RF; Merico, Daniele D; Howe, Jennifer J; MacDonald, Jeffrey R JR; Lu, Chao C; Nalpathamkalam, Thomas T; Sung, Wilson W L WWL; Wang, Zhuozhi Z; Patel, Rohan V RV; Pellecchia, Giovanna G; Wei, John J; Strug, Lisa J LJ; Bell, Sherilyn S; Kellam, Barbara B; Mahtani, Melanie M MM; Bassett, Anne S AS; Bombard, Yvonne Y; Weksberg, Rosanna R; Shuman, Cheryl C; Cohn, Ronald D RD; Stavropoulos, Dimitri J DJ; Bowdin, Sarah S; Hildebrandt, Matthew R MR; Wei, Wei W; Romm, Asli A; Pasceri, Peter P; Ellis, James J; Ray, Peter P; Meyn, M Stephen MS; Monfared, Nasim N; Hosseini, S Mohsen SM; Joseph-George, Ann M AM; Keeley, Fred W FW; Cook, Ryan A RA; Fiume, Marc M; Lee, Hin C HC; Marshall, Christian R CR; Davies, Jill J; Hazell, Allison A; Buchanan, Janet A JA; Szego, Michael J MJ; Scherer, Stephen W SW

Publication Date: 2018-02-05

Variant appearance in text: LPL: 953A>G; Asn318Ser

PubMed Link: 29431110

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs268

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Genetics of Triglycerides and the Risk of Atherosclerosis.

Current Atherosclerosis Reports

Dron, Jacqueline S JS; Hegele, Robert A RA

Publication Date: 2017-07

Variant appearance in text: LPL: N318S; rs268

PubMed Link: 28534127

Variant Present in the following documents:

• Main text

View BVdb publication page

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