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: TTN: 102523C>T; Arg34175Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine

Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW

Publication Date: 2022-10-20

Variant appearance in text: TTN: Arg34175Ter; rs752697861

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

View BVdb publication page

---

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Frontiers In Physiology

Desai, Darshini D; Stiene, Danielle D; Song, Taejeong T; Sadayappan, Sakthivel S

Publication Date: 2020

Variant appearance in text: TTN: Arg34175*

PubMed Link: 32670090

Variant Present in the following documents:

• Main text
• fphys-11-00689.pdf

View BVdb publication page

---

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: TTN: 102523C>T; Arg34175*; rs752697861

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.

Journal Of Clinical Neurology (Seoul, Korea)

Park, Hyung Jun HJ; Lee, Jung Hwan JH; Kim, Se Hoon SH; Hong, Ji Man JM; Shin, Ha Young HY; Kim, Seung Min SM; Lee, Ji Hyun JH; Park, Kee Duk KD; Choi, Young Chul YC

Publication Date: 2017-01

Variant appearance in text: TTN: 102523C>T; Arg34175*; rs752697861

PubMed Link: 27868403

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases

Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P

Publication Date: 2016-08-30

Variant appearance in text: TTN: 102523C>T

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

View BVdb publication page

---

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Human Molecular Genetics

Chauveau, Claire C; Bonnemann, Carsten G CG; Julien, Cedric C; Kho, Ay Lin AL; Marks, Harold H; Talim, Beril B; Maury, Philippe P; Arne-Bes, Marie Christine MC; Uro-Coste, Emmanuelle E; Alexandrovich, Alexander A; Vihola, Anna A; Schafer, Sebastian S; Kaufmann, Beth B; Medne, Livija L; Hübner, Norbert N; Foley, A Reghan AR; Santi, Mariarita M; Udd, Bjarne B; Topaloglu, Haluk H; Moore, Steven A SA; Gotthardt, Michael M; Samuels, Mark E ME; Gautel, Mathias M; Ferreiro, Ana A

Publication Date: 2014-02-15

Variant appearance in text: TTN: Arg34175*

PubMed Link: 24105469

Variant Present in the following documents:

• Main text

View BVdb publication page

---