Publications:

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Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association

Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H

Publication Date: 2023-04-12

Variant appearance in text: COL3A1: Gly324Ser; rs587779650

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625-s001.pdf
• JAH3-12-e028625.pdf

View BVdb publication page

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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: COL3A1: 970G>A; Gly324Ser

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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Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Clinical Genetics

Sølyst, Sofus S; Oksjoki, Riina R; Farholt, Stense S; Nielsen, Dorte Guldbrand DG; Christensen, Alex H AH; Fagerberg, Christina R CR; Risom, Lotte L; Gregersen, Pernille Axél PA; Christensen, Maria Bejerholm MB; Rasmussen, Torsten Bloch TB; Diness, Birgitte Rode BR

Publication Date: 2022-09

Variant appearance in text: COL3A1: 970G>A; Gly324Ser

PubMed Link: 35699227

Variant Present in the following documents:

• Main text
• CGE-102-191.pdf

View BVdb publication page

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Rare genetic variants in patients with cervical artery dissection.

European Stroke Journal

Traenka, Christopher C; Kloss, Manja M; Strom, Tim T; Lyrer, Philippe P; Brandt, Tobias T; Bonati, Leo H LH; Grond-Ginsbach, Caspar C; Engelter, Stefan S

Publication Date: 2019-12

Variant appearance in text: COL3A1: Gly324Ser

PubMed Link: 31903434

Variant Present in the following documents:

• Main text

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: COL3A1: 970G>A; G324S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.

Journal Of Vascular Surgery

Shalhub, Sherene S; Byers, Peter H PH; Hicks, Kelli L KL; Charlton-Ouw, Kristofer K; Zarkowsky, Devin D; Coleman, Dawn M DM; Davis, Frank M FM; Regalado, Ellen S ES; De Caridi, Giovanni G; Weaver, K Nicole KN; Miller, Erin M EM; Schermerhorn, Marc L ML; Shean, Katie K; Oderich, Gustavo G; Ribeiro, Mauricio M; Nishikawa, Cole C; Behrendt, Christian-Alexander CA; Debus, E Sebastian ES; von Kodolitsch, Yskert Y; Powell, Richard J RJ; Pepin, Melanie M; Milewicz, Dianna M DM; Lawrence, Peter F PF; Woo, Karen K

Publication Date: 2019-11

Variant appearance in text: COL3A1: 970G>A

PubMed Link: 31126764

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next generation sequencing analysis of patients with familial cervical artery dissection.

European Stroke Journal

Grond-Ginsbach, Caspar C; Brandt, Tobias T; Kloss, Manja M; Aksay, Suna Su SS; Lyrer, Philipp P; Traenka, Christopher C; Erhart, Philipp P; Martin, Juan Jose JJ; Altintas, Ayse A; Siva, Aksel A; de Freitas, Gabriel R GR; Thie, Andreas A; Machetanz, Jochen J; Baumgartner, Ralf W RW; Dichgans, Martin M; Engelter, Stefan T ST

Publication Date: 2017-06

Variant appearance in text: COL3A1: Gly324Ser

PubMed Link: 31008308

Variant Present in the following documents:

• Main text

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: COL3A1: 970G>A; Gly324Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: COL3A1: G324S

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury.

Biology Of Sport

Stępień-Słodkowska, M M; Ficek, K K; Maciejewska-Karłowska, A A; Sawczuk, M M; Ziętek, P P; Król, P P; Zmijewski, P P; Pokrywka, A A; Cięszczyk, P P

Publication Date: 2015-06

Variant appearance in text: COL3A1: 970G>A

PubMed Link: 26060338

Variant Present in the following documents:

• JBS-32-1144416.pdf

View BVdb publication page

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The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

European Journal Of Human Genetics : Ejhg

Frank, Michael M; Albuisson, Juliette J; Ranque, Brigitte B; Golmard, Lisa L; Mazzella, Jean-Michael JM; Bal-Theoleyre, Laurence L; Fauret, Anne-Laure AL; Mirault, Tristan T; Denarié, Nicolas N; Mousseaux, Elie E; Boutouyrie, Pierre P; Fiessinger, Jean-Noël JN; Emmerich, Joseph J; Messas, Emmanuel E; Jeunemaitre, Xavier X

Publication Date: 2015-12

Variant appearance in text: COL3A1: Gly324Ser

PubMed Link: 25758994

Variant Present in the following documents:

• Main text

View BVdb publication page

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Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections.

Bmj Case Reports

Ellis, Richard James Booth RJ; Salehin, Maqsud M; Zhou, Rui R; Somauroo, Mohammad M

Publication Date: 2012-12-12

Variant appearance in text: COL3A1: 970G>A

PubMed Link: 23234825

Variant Present in the following documents:

• Main text

View BVdb publication page

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