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: FBN1: 7039_7040del; Met2347fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: FBN1: 7039_7040del

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 7039_7040del; Met2347fs

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

View BVdb publication page

---

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 7039_7040del; Met2347fs

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

View BVdb publication page

---

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Molecular Genetics & Genomic Medicine

Xu, Shijun S; Li, Lei L; Fu, Yuwei Y; Wang, Xin X; Sun, Hairui H; Wang, Jianbin J; Han, Lu L; Wu, Zining Z; Liu, Yongmin Y; Zhu, Junming J; Sun, Lizhong L; Lan, Feng F; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-01

Variant appearance in text: FBN1: 7039_7040del; M2347Vfs*19

PubMed Link: 31830381

Variant Present in the following documents:

View BVdb publication page

---

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Journal Of The American Heart Association

Mariscalco, Giovanni G; Debiec, Radoslaw R; Elefteriades, John A JA; Samani, Nilesh J NJ; Murphy, Gavin J GJ

Publication Date: 2018-08-07

Variant appearance in text: FBN1: 7039_7040delAT; Met2347Valfs*19

PubMed Link: 30371227

Variant Present in the following documents:

• JAH3-7-e009302-s001.pdf
• JAH3-7-e009302.pdf

View BVdb publication page

---

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: FBN1: 7039_7040delAT; Met2347Valfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Genetics Research

Zhurayev, Rustam R; Proost, Dorien D; Zerbino, Dmytro D; Fedorenko, Viktor V; Meester, Josephina A N JA; VAN Laer, Lut L; Loeys, Bart L BL

Publication Date: 2016-10-11

Variant appearance in text: FBN1: 7039_7040delAT

PubMed Link: 27724990

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports

Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z

Publication Date: 2016-09-09

Variant appearance in text: FBN1: 7039_7040del; Met2347fs

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

View BVdb publication page

---

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Clinical Genetics

Regalado, E S ES; Guo, D C DC; Santos-Cortez, R L P RL; Hostetler, E E; Bensend, T A TA; Pannu, H H; Estrera, A A; Safi, H H; Mitchell, A L AL; Evans, J P JP; Leal, S M SM; Bamshad, M M; Shendure, J J; Nickerson, D A DA; , ; Milewicz, D M DM

Publication Date: 2016-06

Variant appearance in text: FBN1: 7039_7040delAT; Met2347Valfs*19

PubMed Link: 26621581

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Scientific Reports

Guo, Jun J; Cai, Lun L; Jia, Lixin L; Li, Xiaoyan X; Xi, Xin X; Zheng, Shuai S; Liu, Xuxia X; Piao, Chunmei C; Liu, Tingting T; Sun, Zhongsheng Z; Cai, Tao T; Du, Jie J

Publication Date: 2015-08-14

Variant appearance in text: FBN1: 7039_7040delAT

PubMed Link: 26272055

Variant Present in the following documents:

• Main text
• srep13115.pdf

View BVdb publication page

---