Publications:

---

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: 1330G>A; Gly444Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: N/A

PubMed Link: 36742322

Variant Present in the following documents:

View BVdb publication page

---

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.

American Journal Of Medical Genetics. Part A

Yamaguchi, Tomomi T; Hayashi, Shujiro S; Hayashi, Daisuke D; Matsuyama, Takeshi T; Koitabashi, Norimichi N; Ogiwara, Kenichi K; Noda, Masaaki M; Nakada, Chiai C; Fujiki, Shinya S; Furutachi, Akira A; Tanabe, Yasuhiko Y; Yamanaka, Michiko M; Ishikawa, Aki A; Mizukami, Miyako M; Mizuguchi, Asako A; Sugiura, Kazumitsu K; Sumi, Makoto M; Yamazawa, Hirokuni H; Izawa, Atsushi A; Wada, Yuko Y; Fujikawa, Tomomi T; Takiguchi, Yuri Y; Wakui, Keiko K; Takano, Kyoko K; Nishio, Shin-Ya SY; Kosho, Tomoki T

Publication Date: 2022-10-03

Variant appearance in text: COL3A1: 1330G>A; Gly444Arg

PubMed Link: 36189931

Variant Present in the following documents:

• Main text
• AJMG-191-37.pdf

View BVdb publication page

---

Parallel Genomic Alterations of Antigen and Payload Targets Mediate Polyclonal Acquired Clinical Resistance to Sacituzumab Govitecan in Triple-Negative Breast Cancer.

Cancer Discovery

Coates, James T JT; Sun, Sheng S; Leshchiner, Ignaty I; Thimmiah, Nayana N; Martin, Elizabeth E EE; McLoughlin, Daniel D; Danysh, Brian P BP; Slowik, Kara K; Jacobs, Raquel A RA; Rhrissorrakrai, Kahn K; Utro, Filippo F; Levovitz, Chaya C; Denault, Elyssa E; Walmsley, Charlotte S CS; Kambadakone, Avinash A; Stone, James R JR; Isakoff, Steven J SJ; Parida, Laxmi L; Juric, Dejan D; Getz, Gad G; Bardia, Aditya A; Ellisen, Leif W LW

Publication Date: 2021-10

Variant appearance in text: COL3A1: G444R

PubMed Link: 34404686

Variant Present in the following documents:

• candisc-11-2436-s001.pdf

View BVdb publication page

---

Parallel Genomic Alterations of Antigen and Payload Targets Mediate Polyclonal Acquired Clinical Resistance to Sacituzumab Govitecan in Triple-Negative Breast Cancer.

Cancer Discovery

Coates, James T JT; Sun, Sheng S; Leshchiner, Ignaty I; Thimmiah, Nayana N; Martin, Elizabeth E EE; McLoughlin, Daniel D; Danysh, Brian P BP; Slowik, Kara K; Jacobs, Raquel A RA; Rhrissorrakrai, Kahn K; Utro, Filippo F; Levovitz, Chaya C; Denault, Elyssa E; Walmsley, Charlotte S CS; Kambadakone, Avinash A; Stone, James R JR; Isakoff, Steven J SJ; Parida, Laxmi L; Juric, Dejan D; Getz, Gad G; Bardia, Aditya A; Ellisen, Leif W LW

Publication Date: 2021-10

Variant appearance in text: COL3A1: G444R

PubMed Link: 34404686

Variant Present in the following documents:

• candisc-11-2436-s001.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: COL3A1: G444R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

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: 1330G>A; Gly444Arg

PubMed Link: 31126764

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: COL3A1: G444R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

Bmj Open

Ferré, François Côme FC; Frank, Michael M; Gogly, Bruno B; Golmard, Lisa L; Naveau, Adrien A; Chérifi, Hafida H; Emmerich, Joseph J; Gaultier, Frédérick F; Berdal, Ariane A; Jeunemaitre, Xavier X; Fournier, Benjamin P J BP

Publication Date: 2012

Variant appearance in text: COL3A1: 1330G>A; Gly444Arg

PubMed Link: 22492385

Variant Present in the following documents:

• Main text
• bmjopen-2011-000705.pdf
• bmjopen-2011-000705.draft_revisions.pdf

View BVdb publication page

---