Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs3742737

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs3742737

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: TMED8: Q5K

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: TMED8: Q5K; rs3742737

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 9

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: TMED8: Q5K; rs3742737

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: TMED8: Q5K

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: TMED8: Q5K; rs3742737

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival.

Molecular Carcinogenesis

Chen, Ka K; Liu, Hongliang H; Liu, Zhensheng Z; Bloomer, Wendy W; Amos, Christopher I CI; Lee, Jeffrey E JE; Li, Xin X; Nan, Hongmei H; Wei, Qingyi Q

Publication Date: 2019-11

Variant appearance in text: rs3742737

PubMed Link: 31435991

Variant Present in the following documents:

• Main text

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs3742737

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs3742737

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Oncotarget

Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP

Publication Date: 2016-11-22

Variant appearance in text: TMED8: Q5K

PubMed Link: 27791198

Variant Present in the following documents:

• oncotarget-07-77163-s002.xlsx, sheet 3
• oncotarget-07-77163-s002.xlsx, sheet 1
• oncotarget-07-77163-s003.xlsx, sheet 3
• oncotarget-07-77163-s003.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3742737

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: TMED8: Q5K; rs3742737

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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