Publications:

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs1048365

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease.

Acta Neuropathologica

Broce, Iris J IJ; Tan, Chin Hong CH; Fan, Chun Chieh CC; Jansen, Iris I; Savage, Jeanne E JE; Witoelar, Aree A; Wen, Natalie N; Hess, Christopher P CP; Dillon, William P WP; Glastonbury, Christine M CM; Glymour, Maria M; Yokoyama, Jennifer S JS; Elahi, Fanny M FM; Rabinovici, Gil D GD; Miller, Bruce L BL; Mormino, Elizabeth C EC; Sperling, Reisa A RA; Bennett, David A DA; McEvoy, Linda K LK; Brewer, James B JB; Feldman, Howard H HH; Hyman, Bradley T BT; Pericak-Vance, Margaret M; Haines, Jonathan L JL; Farrer, Lindsay A LA; Mayeux, Richard R; Schellenberg, Gerard D GD; Yaffe, Kristine K; Sugrue, Leo P LP; Dale, Anders M AM; Posthuma, Danielle D; Andreassen, Ole A OA; Karch, Celeste M CM; Desikan, Rahul S RS

Publication Date: 2019-02

Variant appearance in text: rs1048365

PubMed Link: 30413934

Variant Present in the following documents:

• Main text

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs1048365

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs1048365

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page