Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: SERPINC1: V30E

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Hepatology Communications

Sobel Naveh, Natali S NS; Traxler, Emily M EM; Duffy, Kelly A KA; Kalish, Jennifer M JM

Publication Date: 2022-08

Variant appearance in text: SERPINC1: V30E; rs2227624

PubMed Link: 35507738

Variant Present in the following documents:

• HEP4-6-2132-s005.xlsx, sheet 1

View BVdb publication page

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Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.

International Journal Of Molecular Sciences

Khider, Lina L; Gendron, Nicolas N; Mauge, Laetitia L

Publication Date: 2022-02-05

Variant appearance in text: SERPINC1: Val30Glu

PubMed Link: 35163742

Variant Present in the following documents:

• Main text
• ijms-23-01821.pdf

View BVdb publication page

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Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.

International Journal Of Molecular Sciences

Khider, Lina L; Gendron, Nicolas N; Mauge, Laetitia L

Publication Date: 2022-02-05

Variant appearance in text: SERPINC1: Val30Glu

PubMed Link: 35163742

Variant Present in the following documents:

• Main text
• ijms-23-01821.pdf

View BVdb publication page

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Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study.

Journal Of The American Heart Association

Manderstedt, Eric E; Lind-Halldén, Christina C; Halldén, Christer C; Elf, Johan J; Svensson, Peter J PJ; Dahlbäck, Björn B; Engström, Gunnar G; Melander, Olle O; Baras, Aris A; Lotta, Luca A LA; Zöller, Bengt B; ,

Publication Date: 2022-02-15

Variant appearance in text: SERPINC1: Val30Glu

PubMed Link: 35112923

Variant Present in the following documents:

• Main text
• JAH3-11-e023018-s001.pdf
• JAH3-11-e023018.pdf

View BVdb publication page

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Platelet GPVI (Glycoprotein VI) and Thrombotic Complications in the Venous System.

Arteriosclerosis, Thrombosis, And Vascular Biology

Perrella, Gina G; Nagy, Magdolna M; Watson, Steve P SP; Heemskerk, Johan W M JWM

Publication Date: 2021-11

Variant appearance in text: SERPINC1: Val30Glu; rs2227624

PubMed Link: 34496636

Variant Present in the following documents:

• atv-41-2681.pdf

View BVdb publication page

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth

Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K

Publication Date: 2021-10

Variant appearance in text: SERPINC1: 89T>A; Val30Glu

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.

International Journal Of Molecular Sciences

Reda, Sara S; Müller, Jens J; Pavlova, Anna A; Pezeshkpoor, Behnaz B; Oldenburg, Johannes J; Pötzsch, Bernd B; Rühl, Heiko H

Publication Date: 2021-02-20

Variant appearance in text: SERPINC1: 89T>A; Val30Glu

PubMed Link: 33672736

Variant Present in the following documents:

• Main text
• ijms-22-02119.pdf

View BVdb publication page

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Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Research And Practice In Thrombosis And Haemostasis

Maruyama, Keiko K; Kokame, Koichi K

Publication Date: 2021-01

Variant appearance in text: SERPINC1: 89T>A

PubMed Link: 33537542

Variant Present in the following documents:

• Main text
• RTH2-5-179.pdf

View BVdb publication page

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N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function.

International Journal Of Molecular Sciences

Águila, Sonia S; Noto, Rosina R; Luengo-Gil, Ginés G; Espín, Salvador S; Bohdan, Nataliya N; de la Morena-Barrio, María Eugenia ME; Peñas, Julia J; Rodenas, Maria Carmen MC; Vicente, Vicente V; Corral, Javier J; Manno, Mauro M; Martínez-Martínez, Irene I

Publication Date: 2021-01-06

Variant appearance in text: SERPINC1: Val30Glu

PubMed Link: 33419227

Variant Present in the following documents:

• ijms-22-00516.pdf

View BVdb publication page

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Association of SERPINC1 Gene Polymorphism (rs2227589) With Pulmonary Embolism Risk in a Chinese Population.

Frontiers In Genetics

Yue, Yongjian Y; Sun, Qing Q; Xiao, Lu L; Liu, Shengguo S; Huang, Qijun Q; Wang, Minlian M; Huo, Mei M; Yang, Mo M; Fu, Yingyun Y

Publication Date: 2019

Variant appearance in text: SERPINC1: Val30Glu

PubMed Link: 31572449

Variant Present in the following documents:

• fgene-10-00844.pdf

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: SERPINC1: V30E

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 61

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: SERPINC1: V30E

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: SERPINC1: V30E; rs2227624

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.

Oncotarget

Zeng, Wei W; Hu, Bei B; Tang, Liang L; You, Yan-Yan YY; Toderici, Mara M; de la Morena-Barrio, Maria Eugenia ME; Corral, Javier J; Hu, Yu Y

Publication Date: 2017-10-13

Variant appearance in text: SERPINC1: Val30Glu

PubMed Link: 29137435

Variant Present in the following documents:

• oncotarget-08-84417.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SERPINC1: 89T>A; Val30Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.

Scientific Reports

Revilla, Nuria N; de la Morena-Barrio, María Eugenia ME; Miñano, Antonia A; López-Gálvez, Raquel R; Toderici, Mara M; Padilla, José J; García-Avello, Ángel Á; Lozano, María Luisa ML; Lefeber, Dirk J DJ; Corral, Javier J; Vicente, Vicente V

Publication Date: 2017-03-17

Variant appearance in text: SERPINC1: Val30Glu

PubMed Link: 28303970

Variant Present in the following documents:

• srep44556.pdf

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: rs2227624

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: SERPINC1: V30E

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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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: SERPINC1: V30E; rs2227624

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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