Publications:

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: ADAMTS13: 1370C>T; Pro457Leu

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

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Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

Blood Advances

Jankowska, Katarzyna I KI; Meyer, Douglas D; Holcomb, David D DD; Kames, Jacob J; Hamasaki-Katagiri, Nobuko N; Katneni, Upendra K UK; Hunt, Ryan C RC; Ibla, Juan C JC; Kimchi-Sarfaty, Chava C

Publication Date: 2022-09-27

Variant appearance in text: ADAMTS13: P457L; rs36220240

PubMed Link: 35667091

Variant Present in the following documents:

• Main text
• advancesADV2022007065.pdf
• advancesADV2022007065-suppl1.pdf

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: ADAMTS13: P457L

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.

Blood Advances

Borogovac, Azra A; Reese, Jessica A JA; Gupta, Samiksha S; George, James N JN

Publication Date: 2022-02-08

Variant appearance in text: ADAMTS13: 1370C>T

PubMed Link: 34807988

Variant Present in the following documents:

• advancesADV2021005760-suppl1.pdf

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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data

Zhao, Ting T; Fan, Shanghua S; Sun, Liu L

Publication Date: 2021-11-17

Variant appearance in text: rs36220240

PubMed Link: 34789164

Variant Present in the following documents:

• 12863_2021_1010_MOESM8_ESM.xlsx, sheet 1
• 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One

Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F

Publication Date: 2021

Variant appearance in text: ADAMTS13: P457L; rs36220240

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s004.pdf
• pone.0258675.s002.pdf

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Factor D Inhibition Blocks Complement Activation Induced by Mutant Factor B Associated With Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis.

Frontiers In Immunology

Aradottir, Sigridur Sunna SS; Kristoffersson, Ann-Charlotte AC; Roumenina, Lubka T LT; Bjerre, Anna A; Kashioulis, Pavlos P; Palsson, Runolfur R; Karpman, Diana D

Publication Date: 2021

Variant appearance in text: ADAMTS13: P457L

PubMed Link: 34177949

Variant Present in the following documents:

• Main text
• fimmu-12-690821.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ADAMTS13: 1370C>T; Pro457Leu; rs36220240

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.

Biomolecules

Rim, John Hoon JH; Choi, Yo Jun YJ; Gee, Heon Yung HY

Publication Date: 2020-03-13

Variant appearance in text: ADAMTS13: 1370C>T; P457L

PubMed Link: 32183147

Variant Present in the following documents:

• biomolecules-10-00449-s001.pdf

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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Research And Practice In Thrombosis And Haemostasis

Fidalgo, Teresa T; Martinho, Patrícia P; Pinto, Catarina S CS; Oliveira, Ana C AC; Salvado, Ramon R; Borràs, Nina N; Coucelo, Margarida M; Manco, Licínio L; Maia, Tabita T; Mendes, M João MJ; Del Orbe Barreto, Rafael R; Corrales, Irene I; Vidal, Francisco F; Ribeiro, M Letícia ML

Publication Date: 2017-07

Variant appearance in text: ADAMTS13: 1370C>T; Pro457Leu; rs36220240

PubMed Link: 30046676

Variant Present in the following documents:

• Main text
• RTH2-1-69-s004.pdf
• RTH2-1-69.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: rs36220240

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: ADAMTS13: P457L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs36220240

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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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: rs36220240

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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Complement activation associated with ADAMTS13 deficiency in human and murine thrombotic microangiopathy.

Journal Of Immunology (Baltimore, Md. : 1950)

Tati, Ramesh R; Kristoffersson, Ann-Charlotte AC; Ståhl, Anne-Lie AL; Rebetz, Johan J; Wang, Li L; Licht, Christoph C; Motto, David D; Karpman, Diana D

Publication Date: 2013-09-01

Variant appearance in text: ADAMTS13: P457L

PubMed Link: 23878316

Variant Present in the following documents:

• Main text

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ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura.

European Journal Of Pediatrics

Manea, Minola M; Kristoffersson, AnnCharlotte A; Tsai, Han-Mou HM; Zhou, Wenhua W; Winqvist, Ingemar I; Oldaeus, Göran G; Billström, Rolf R; Björk, Peter P; Holmberg, Lars L; Karpman, Diana D

Publication Date: 2007-03

Variant appearance in text: ADAMTS13: P457L

PubMed Link: 17187257

Variant Present in the following documents:

• Main text
• 431_2006_Article_354.pdf

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Molecular biology of ADAMTS13 and diagnostic utility of ADAMTS13 proteolytic activity and inhibitor assays.

Seminars In Thrombosis And Hemostasis

Shelat, Suresh G SG; Ai, Jihui J; Zheng, X Long XL

Publication Date: 2005-12

Variant appearance in text: ADAMTS13: P457L

PubMed Link: 16388417

Variant Present in the following documents:

• Main text

View BVdb publication page

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