Publications:

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Plos Genetics

Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP

Publication Date: 2021-07

Variant appearance in text: EGF: 1382G>A; Cys461Tyr

PubMed Link: 34324492

Variant Present in the following documents:

• pgen.1009679.s019.xlsx, sheet 3

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Does Notch play a tumor suppressor role across diverse squamous cell carcinomas?

Cancer Medicine

Zhang, Min M; Biswas, Sangita S; Qin, Xin X; Gong, Wenrong W; Deng, Wenbing W; Yu, Hongjun H

Publication Date: 2016-08

Variant appearance in text: EGF: C461Y

PubMed Link: 27228302

Variant Present in the following documents:

• Main text

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Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

Plos One

Hosono, Katsuhiro K; Ishigami, Chie C; Takahashi, Masayo M; Park, Dong Ho DH; Hirami, Yasuhiko Y; Nakanishi, Hiroshi H; Ueno, Shinji S; Yokoi, Tadashi T; Hikoya, Akiko A; Fujita, Taichi T; Zhao, Yang Y; Nishina, Sachiko S; Shin, Jae Pil JP; Kim, In Taek IT; Yamamoto, Shuichi S; Azuma, Noriyuki N; Terasaki, Hiroko H; Sato, Miho M; Kondo, Mineo M; Minoshima, Shinsei S; Hotta, Yoshihiro Y

Publication Date: 2012

Variant appearance in text: EGF: 1382G>A; C461Y

PubMed Link: 22363543

Variant Present in the following documents:

• Main text

View BVdb publication page