Publications:

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Risk factors for thrombolysis-related intracranial hemorrhage: a systematic review and meta-analysis.

Thrombosis Journal

Chen, Jiana J; Zeng, Zhiwei Z; Fang, Zongwei Z; Ma, Fuxin F; Lv, Meina M; Zhang, Jinhua J

Publication Date: 2023-03-14

Variant appearance in text: rs1801020

PubMed Link: 36918881

Variant Present in the following documents:

• Main text
• 12959_2023_Article_467.pdf

View BVdb publication page

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Symptomatic Intracranial Hemorrhage After Endovascular Stroke Treatment: External Validation of Prediction Models.

Stroke

van der Ende, Nadinda A M NAM; Kremers, Femke C C FCC; van der Steen, Wouter W; Venema, Esmee E; Kappelhof, Manon M; Majoie, Charles B L M CBLM; Postma, Alida A AA; Boiten, Jelis J; van den Wijngaard, Ido R IR; van der Lugt, Aad A; Dippel, Diederik W J DWJ; Roozenbeek, Bob B; ,

Publication Date: 2023-02

Variant appearance in text: rs1801020

PubMed Link: 36689584

Variant Present in the following documents:

• str-54-476.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs1801020

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

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SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Frontiers In Allergy

Drouet, Christian C; López-Lera, Alberto A; Ghannam, Arije A; López-Trascasa, Margarita M; Cichon, Sven S; Ponard, Denise D; Parsopoulou, Faidra F; Grombirikova, Hana H; Freiberger, Tomáš T; Rijavec, Matija M; Veronez, Camila L CL; Pesquero, João Bosco JB; Germenis, Anastasios E AE

Publication Date: 2022

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 35958943

Variant Present in the following documents:

• Main text
• falgy-03-835503.pdf

View BVdb publication page

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Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort.

Metabolites

König, Eva E; Rainer, Johannes J; Hernandes, Vinicius Verri VV; Paglia, Giuseppe G; Del Greco M, Fabiola F; Bottigliengo, Daniele D; Yin, Xianyong X; Chan, Lap Sum LS; Teumer, Alexander A; Pramstaller, Peter P PP; Locke, Adam E AE; Fuchsberger, Christian C

Publication Date: 2022-06-29

Variant appearance in text: rs1801020

PubMed Link: 35888728

Variant Present in the following documents:

• metabolites-12-00604.pdf

View BVdb publication page

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Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).

Frontiers In Allergy

Parsopoulou, Faidra F; Loules, Gedeon G; Zamanakou, Maria M; Csuka, Dorottya D; Szilagyi, Agnes A; Kompoti, Maria M; Porebski, Grzegorz G; Psarros, Fotis F; Magerl, Markus M; Valerieva, Anna A; Staevska, Maria M; Obtulowicz, Krystyna K; Maurer, Marcus M; Speletas, Matthaios M; Farkas, Henriette H; Germenis, Anastasios E AE

Publication Date: 2022

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 35873600

Variant Present in the following documents:

• Main text
• falgy-03-868185.pdf

View BVdb publication page

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A validated clinical-genetic score for assessing the risk of thrombosis in patients with COVID-19 receiving thromboprophylaxis.

Haematologica

Soria, José Manuel JM; Mojal, Sergi S; Martinez-Perez, Angel A; Acosta, Francisco René FR; López, Sonia S; Miqueleiz, Sara S; Rodriguez, Diana D; Quijada, Maria Angeles MA; Cardenas, Antonio A; Vidal, Francisco F; Remacha, Angel A; Antonijoan, Rosa Maria RM; Souto, Juan Carlos JC

Publication Date: 2022-09-01

Variant appearance in text: rs1801020

PubMed Link: 35545920

Variant Present in the following documents:

• Main text
• 1072244.pdf

View BVdb publication page

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Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability.

Nature Communications

Kierczak, Marcin M; Rafati, Nima N; Höglund, Julia J; Gourlé, Hadrien H; Lo Faro, Valeria V; Schmitz, Daniel D; Ek, Weronica E WE; Gyllensten, Ulf U; Enroth, Stefan S; Ekman, Diana D; Nystedt, Björn B; Karlsson, Torgny T; Johansson, Åsa Å

Publication Date: 2022-05-09

Variant appearance in text: rs1801020

PubMed Link: 35534486

Variant Present in the following documents:

• Main text
• 41467_2022_Article_30208.pdf

View BVdb publication page

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Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.

Frontiers In Cardiovascular Medicine

Soukarieh, Omar O; Meguerditchian, Caroline C; Proust, Carole C; Aïssi, Dylan D; Eyries, Mélanie M; Goyenvalle, Aurélie A; Trégouët, David-Alexandre DA

Publication Date: 2022

Variant appearance in text: rs1801020

PubMed Link: 35387445

Variant Present in the following documents:

• Main text
• fcvm-09-841032.pdf

View BVdb publication page

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Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.

Scientific Reports

Choe, Eun Kyung EK; Shivakumar, Manu M; Verma, Anurag A; Verma, Shefali Setia SS; Choi, Seung Ho SH; Kim, Joo Sung JS; Kim, Dokyoon D

Publication Date: 2022-02-04

Variant appearance in text: rs1801020

PubMed Link: 35121771

Variant Present in the following documents:

• 41598_2021_4580_MOESM5_ESM.pdf

View BVdb publication page

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Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.

Journal Of The American Heart Association

Leskelä, Jaakko J; Toppila, Iiro I; Härma, Mari-Anne MA; Palviainen, Teemu T; Salminen, Aino A; Sandholm, Niina N; Pietiäinen, Milla M; Kopra, Elisa E; Pais de Barros, Jean-Paul JP; , ; Lassenius, Mariann I MI; Kumar, Anmol A; Harjutsalo, Valma V; Roslund, Kajsa K; Forsblom, Carol C; Loukola, Anu A; Havulinna, Aki S AS; Lagrost, Laurent L; Salomaa, Veikko V; Groop, Per-Henrik PH; Perola, Markus M; Kaprio, Jaakko J; Lehto, Markku M; Pussinen, Pirkko J PJ

Publication Date: 2021-11-02

Variant appearance in text: rs1801020

PubMed Link: 34668383

Variant Present in the following documents:

• Main text
• JAH3-10-e022482.pdf

View BVdb publication page

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Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.

Journal Of The American Heart Association

Leskelä, Jaakko J; Toppila, Iiro I; Härma, Mari-Anne MA; Palviainen, Teemu T; Salminen, Aino A; Sandholm, Niina N; Pietiäinen, Milla M; Kopra, Elisa E; Pais de Barros, Jean-Paul JP; , ; Lassenius, Mariann I MI; Kumar, Anmol A; Harjutsalo, Valma V; Roslund, Kajsa K; Forsblom, Carol C; Loukola, Anu A; Havulinna, Aki S AS; Lagrost, Laurent L; Salomaa, Veikko V; Groop, Per-Henrik PH; Perola, Markus M; Kaprio, Jaakko J; Lehto, Markku M; Pussinen, Pirkko J PJ

Publication Date: 2021-11-02

Variant appearance in text: rs1801020

PubMed Link: 34668383

Variant Present in the following documents:

• Main text
• JAH3-10-e022482.pdf

View BVdb publication page

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A Chinese host genetic study discovered IFNs and causality of laboratory traits on COVID-19 severity.

Iscience

Zhu, Huanhuan H; Zheng, Fang F; Li, Linxuan L; Jin, Yan Y; Luo, Yuxue Y; Li, Zhen Z; Zeng, Jingyu J; Tang, Ling L; Li, Zilong Z; Xia, Ningyu N; Liu, Panhong P; Han, Dan D; Shan, Ying Y; Zhu, Xiaoying X; Liu, Siyang S; Xie, Rong R; Chen, Yilin Y; Liu, Wen W; Liu, Longqi L; Xu, Xun X; Wang, Jian J; Yang, Huanming H; Shen, Xia X; Jin, Xin X; Cheng, Fanjun F

Publication Date: 2021-10-22

Variant appearance in text: rs1801020

PubMed Link: 34608450

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism in Northern and Southern European Populations.

Th Open : Companion Journal To Thrombosis And Haemostasis

Salas, Eduardo E; Farm, Maria M; Pich, Sara S; Onelöv, Liselotte L; Guillen, Kevin K; Ortega, Israel I; Antovic, Jovan P JP; Soria, Jose Manuel JM

Publication Date: 2021-07

Variant appearance in text: rs1801020

PubMed Link: 34263111

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.

Genes

Gemmati, Donato D; Longo, Giovanna G; Franchini, Eugenia E; Araujo Silva, Juliana J; Gallo, Ines I; Lunghi, Barbara B; Moratelli, Stefano S; Maestri, Iva I; Serino, Maria Luisa ML; Tisato, Veronica V

Publication Date: 2021-06-18

Variant appearance in text: rs1801020

PubMed Link: 34207366

Variant Present in the following documents:

• Main text
• genes-12-00934.pdf

View BVdb publication page

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The Genetics of Hereditary Angioedema: A Review.

Journal Of Clinical Medicine

Santacroce, Rosa R; D'Andrea, Giovanna G; Maffione, Angela Bruna AB; Margaglione, Maurizio M; d'Apolito, Maria M

Publication Date: 2021-05-09

Variant appearance in text: rs1801020

PubMed Link: 34065094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hemorrhagic Transformation in Ischemic Stroke and the Role of Inflammation.

Frontiers In Neurology

Spronk, Elena E; Sykes, Gina G; Falcione, Sarina S; Munsterman, Danielle D; Joy, Twinkle T; Kamtchum-Tatuene, Joseph J; Jickling, Glen C GC

Publication Date: 2021

Variant appearance in text: rs1801020

PubMed Link: 34054705

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of cardiac troponin I in the general population.

Human Molecular Genetics

Moksnes, Marta R MR; Røsjø, Helge H; Richmond, Anne A; Lyngbakken, Magnus N MN; Graham, Sarah E SE; Hansen, Ailin Falkmo AF; Wolford, Brooke N BN; Gagliano Taliun, Sarah A SA; LeFaive, Jonathon J; Rasheed, Humaira H; Thomas, Laurent F LF; Zhou, Wei W; Aung, Nay N; Surakka, Ida I; Douville, Nicholas J NJ; Campbell, Archie A; Porteous, David J DJ; Petersen, Steffen E SE; Munroe, Patricia B PB; Welsh, Paul P; Sattar, Naveed N; Smith, George Davey GD; Fritsche, Lars G LG; Nielsen, Jonas B JB; Åsvold, Bjørn Olav BO; Hveem, Kristian K; Hayward, Caroline C; Willer, Cristen J CJ; Brumpton, Ben M BM; Omland, Torbjørn T

Publication Date: 2021-10-13

Variant appearance in text: rs1801020

PubMed Link: 33961016

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biomarkers in Hereditary Angioedema.

Clinical Reviews In Allergy & Immunology

Porebski, Grzegorz G; Kwitniewski, Mateusz M; Reshef, Avner A

Publication Date: 2021-06

Variant appearance in text: rs1801020

PubMed Link: 33560480

Variant Present in the following documents:

• Main text
• 12016_2021_Article_8845.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs1801020

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19

View BVdb publication page

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The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.

Frontiers In Genetics

Corvillo, Fernando F; de la Morena-Barrio, María Eugenia ME; Marcos-Bravo, Carmen C; López-Trascasa, Margarita M; Vicente, Vicente V; Emsley, Jonas J; Caballero, Teresa T; Corral, Javier J; López-Lera, Alberto A

Publication Date: 2020

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 33133137

Variant Present in the following documents:

• Main text
• fgene-11-01033.pdf

View BVdb publication page

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Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.

Orphanet Journal Of Rare Diseases

López-Gálvez, Raquel R; de la Morena-Barrio, María Eugenia ME; López-Lera, Alberto A; Pathak, Monika M; Miñano, Antonia A; Serrano, Mercedes M; Borgel, Delphine D; Roldán, Vanessa V; Vicente, Vicente V; Emsley, Jonas J; Corral, Javier J

Publication Date: 2020-10-09

Variant appearance in text: rs1801020

PubMed Link: 33036649

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1564.pdf

View BVdb publication page

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A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.

American Journal Of Human Genetics

Feofanova, Elena V EV; Chen, Han H; Dai, Yulin Y; Jia, Peilin P; Grove, Megan L ML; Morrison, Alanna C AC; Qi, Qibin Q; Daviglus, Martha M; Cai, Jianwen J; North, Kari E KE; Laurie, Cathy C CC; Kaplan, Robert C RC; Boerwinkle, Eric E; Yu, Bing B

Publication Date: 2020-11-05

Variant appearance in text: rs1801020

PubMed Link: 33031748

Variant Present in the following documents:

• Main text

View BVdb publication page

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Facets of individual-specific health signatures determined from longitudinal plasma proteome profiling.

Ebiomedicine

Dodig-Crnković, Tea T; Hong, Mun-Gwan MG; Thomas, Cecilia Engel CE; Häussler, Ragna S RS; Bendes, Annika A; Dale, Matilda M; Edfors, Fredrik F; Forsström, Björn B; Magnusson, Patrik K E PKE; Schuppe-Koistinen, Ina I; Odeberg, Jacob J; Fagerberg, Linn L; Gummesson, Anders A; Bergström, Göran G; Uhlén, Mathias M; Schwenk, Jochen M JM

Publication Date: 2020-07

Variant appearance in text: rs1801020

PubMed Link: 32629387

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Decreased plasma kallikrein activity is associated with reduced kidney function in individuals with type 1 diabetes.

Diabetologia

Härma, Mari-Anne MA; Dahlström, Emma H EH; Sandholm, Niina N; Forsblom, Carol C; Groop, Per-Henrik PH; Lehto, Markku M; ,

Publication Date: 2020-07

Variant appearance in text: rs1801020

PubMed Link: 32270254

Variant Present in the following documents:

• Main text
• 125_2020_Article_5144.pdf
• 125_2020_5144_MOESM1_ESM.pdf

View BVdb publication page

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Translational Genomics in Neurocritical Care: a Review.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Myserlis, Pavlos P; Radmanesh, Farid F; Anderson, Christopher D CD

Publication Date: 2020-04

Variant appearance in text: rs1801020

PubMed Link: 32080794

Variant Present in the following documents:

• Main text
• 13311_2020_Article_838.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: F12: -4T>C; rs1801020

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA.

Neurology

Carrera, Caty C; Cullell, Natalia N; Torres-Águila, Nuria N; Muiño, Elena E; Bustamante, Alejandro A; Dávalos, Antonio A; López-Cancio, Elena E; Ribó, Marc M; Molina, Carlos A CA; Giralt-Steinhauer, Eva E; Soriano-Tárraga, Carolina C; Mola-Caminal, Marina M; Jiménez-Conde, Jordi J; Roquer, Jaume J; Vives-Bauza, Cristófol C; Navarro, Rosa Díaz RD; Obach, Victor V; Arenillas, Juan Francisco JF; Segura, Tomás T; Serrano-Heras, Gemma G; Martí-Fàbregas, Joan J; Freijo, Marimar M; Cabezas, Juan Antonio JA; Tatlisumak, Turgut T; Heitsch, Laura L; Ibañez, Laura L; Cruchaga, Carlos C; Lee, Jin-Moo JM; Strbian, Daniel D; Montaner, Joan J; Fernández-Cadenas, Israel I; ,

Publication Date: 2019-08-27

Variant appearance in text: rs1801020

PubMed Link: 31366724

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent Miscarriage and Implantation Failure of Unknown Cause Studied by a Panel of Thrombophilia Conditions: Increased Frequency of FXIII Val34Leu Polymorphism.

Journal Of Reproduction & Infertility

Diaz-Nuñez, Maria M; Rabanal, Aintzane A; Expósito, Antonia A; Ferrando, Marcos M; Quintana, Fernando F; Soria, Jose Manuel JM; Matorras, Roberto R

Publication Date: 2019

Variant appearance in text: rs1801020

PubMed Link: 31058051

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-Analysis of Factor V, Factor VII, Factor XII, and Factor XIII-A Gene Polymorphisms and Ischemic Stroke.

Medicina (Kaunas, Lithuania)

Wei, Loo Keat LK; Griffiths, Lyn R LR; Kooi, Cheah Wee CW; Irene, Looi L

Publication Date: 2019-04-11

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 30979054

Variant Present in the following documents:

• Main text
• medicina-55-00101.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes.

Plos One

Fernández Arias, M M; Mazarico, E E; Gonzalez, A A; Muniesa, M M; Molinet, C C; Almeida, L L; Gómez Roig, M D MD

Publication Date: 2019

Variant appearance in text: rs1801020

PubMed Link: 30811416

Variant Present in the following documents:

• Main text
• pone.0211114.pdf

View BVdb publication page

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An investigational RNAi therapeutic targeting Factor XII (ALN-F12) for the treatment of hereditary angioedema.

Rna (New York, N.Y.)

Liu, Jingxuan J; Qin, June J; Borodovsky, Anna A; Racie, Timothy T; Castoreno, Adam A; Schlegel, Mark M; Maier, Martin A MA; Zimmerman, Tracy T; Fitzgerald, Kevin K; Butler, James J; Akinc, Akin A

Publication Date: 2019-02

Variant appearance in text: rs1801020

PubMed Link: 30463937

Variant Present in the following documents:

• Main text
• 255.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: F12: -4T>C; rs1801020

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Multivariable clinical-genetic risk model for predicting venous thromboembolic events in patients with cancer.

British Journal Of Cancer

Muñoz Martín, Andrés J AJ; Ortega, Israel I; Font, Carme C; Pachón, Vanesa V; Castellón, Victoria V; Martínez-Marín, Virginia V; Salgado, Mercedes M; Martínez, Eva E; Calzas, Julia J; Rupérez, Ana A; Souto, Juan C JC; Martín, Miguel M; Salas, Eduardo E; Soria, Jose M JM

Publication Date: 2018-04

Variant appearance in text: rs1801020

PubMed Link: 29588512

Variant Present in the following documents:

• Main text
• 41416_2018_Article_27.pdf

View BVdb publication page

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Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.

Human Molecular Genetics

de Vries, Paul S PS; Yu, Bing B; Feofanova, Elena V EV; Metcalf, Ginger A GA; Brown, Michael R MR; Zeighami, Atefeh L AL; Liu, Xiaoming X; Muzny, Donna M DM; Gibbs, Richard A RA; Boerwinkle, Eric E; Morrison, Alanna C AC

Publication Date: 2017-09-01

Variant appearance in text: rs1801020

PubMed Link: 28854705

Variant Present in the following documents:

• Main text

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Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study.

Plos One

Simino, Jeannette J; Wang, Zhiying Z; Bressler, Jan J; Chouraki, Vincent V; Yang, Qiong Q; Younkin, Steven G SG; Seshadri, Sudha S; Fornage, Myriam M; Boerwinkle, Eric E; Mosley, Thomas H TH

Publication Date: 2017

Variant appearance in text: rs1801020

PubMed Link: 28704393

Variant Present in the following documents:

• Main text
• pone.0180046.pdf

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