Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: N/A

PubMed Link: 36966136

Variant Present in the following documents:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: N/A

PubMed Link: 36075891

Variant Present in the following documents:

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: GALR1: 306G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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Alterations in the neuropeptide galanin system in major depressive disorder involve levels of transcripts, methylation, and peptide.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Barde, Swapnali S; Rüegg, Joelle J; Prud'homme, Josée J; Ekström, Tomas J TJ; Palkovits, Miklos M; Turecki, Gustavo G; Bagdy, Gyorgy G; Ihnatko, Robert R; Theodorsson, Elvar E; Juhasz, Gabriella G; Diaz-Heijtz, Rochellys R; Mechawar, Naguib N; Hökfelt, Tomas G M TG

Publication Date: 2016-12-27

Variant appearance in text: rs5375

PubMed Link: 27940914

Variant Present in the following documents:

• Main text

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PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

Annals Of Clinical And Translational Neurology

Hildebrand, Michael S MS; Tankard, Rick R; Gazina, Elena V EV; Damiano, John A JA; Lawrence, Kate M KM; Dahl, Hans-Henrik M HH; Regan, Brigid M BM; Shearer, Aiden Eliot AE; Smith, Richard J H RJ; Marini, Carla C; Guerrini, Renzo R; Labate, Angelo A; Gambardella, Antonio A; Tinuper, Paolo P; Lichetta, Laura L; Baldassari, Sara S; Bisulli, Francesca F; Pippucci, Tommaso T; Scheffer, Ingrid E IE; Reid, Christopher A CA; Petrou, Steven S; Bahlo, Melanie M; Berkovic, Samuel F SF

Publication Date: 2015-08

Variant appearance in text: rs5375

PubMed Link: 26339676

Variant Present in the following documents:

• Main text
• acn30002-0821.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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Brain galanin system genes interact with life stresses in depression-related phenotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Juhasz, Gabriella G; Hullam, Gabor G; Eszlari, Nora N; Gonda, Xenia X; Antal, Peter P; Anderson, Ian Muir IM; Hökfelt, Tomas G M TG; Deakin, J F William JF; Bagdy, Gyorgy G

Publication Date: 2014-04-22

Variant appearance in text: rs5375

PubMed Link: 24706871

Variant Present in the following documents:

• Main text

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