Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs7208422

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TMC8: N306T; rs7208422

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: rs7208422

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_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: rs7208422

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive co-expression analysis reveals TMC8 as a prognostic immune-associated gene in head and neck squamous cancer.

Oncology Letters

Lin, Bo B; Wang, Shunji S; Yao, Youdan Y; Shen, Yuehong Y; Yang, Hongyu H

Publication Date: 2021-07

Variant appearance in text: rs7208422

PubMed Link: 33981360

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs7208422

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Gene expression is stable in a complete CIB1 knockout keratinocyte model.

Scientific Reports

Imahorn, Elias E; Aushev, Magomet M; Herms, Stefan S; Hoffmann, Per P; Cichon, Sven S; Reichelt, Julia J; Itin, Peter H PH; Burger, Bettina B

Publication Date: 2020-09-11

Variant appearance in text: rs7208422

PubMed Link: 32917957

Variant Present in the following documents:

• Main text
• 41598_2020_Article_71889.pdf

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: rs7208422

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: rs7208422

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs7208422

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of Cross-Contamination and Misidentification of 278 Widely Used Tumor Cell Lines.

Plos One

Huang, Yaqing Y; Liu, Yuehong Y; Zheng, Congyi C; Shen, Chao C

Publication Date: 2017

Variant appearance in text: rs7208422

PubMed Link: 28107433

Variant Present in the following documents:

• Main text
• pone.0170384.pdf

View BVdb publication page

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The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.

Postepy Dermatologii I Alergologii

Kalińska-Bienias, Agnieszka A; Kowalewski, Cezary C; Majewski, Sławomir S

Publication Date: 2016-04

Variant appearance in text: rs7208422

PubMed Link: 27279814

Variant Present in the following documents:

• Main text
• PDIA-33-27312.pdf

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: rs7208422

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetic variations in the epidermodysplasia verruciformis (EVER/TMC) genes, cutaneous human papillomavirus infection and squamous cell carcinoma of the skin.

The British Journal Of Dermatology

Hampras, S S SS; Rollison, D E DE; Tommasino, M M; Gheit, T T; Schabath, M B MB; Messina, J L JL; Fenske, N A NA; Cherpelis, B S BS; Sondak, V K VK; Iannacone, M R MR; Schmitt, M M; Pawlita, M M

Publication Date: 2015-12

Variant appearance in text: rs7208422

PubMed Link: 26126409

Variant Present in the following documents:

• Main text

View BVdb publication page

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A coding variant in TMC8 (EVER2) is associated with high risk HPV infection and head and neck cancer risk.

Plos One

Liang, Caihua C; Kelsey, Karl T KT; McClean, Michael D MD; Christensen, Brock C BC; Marsit, Carmen J CJ; Karagas, Margaret R MR; Waterboer, Tim T; Pawlita, Michael M; Nelson, Heather H HH

Publication Date: 2015

Variant appearance in text: rs7208422

PubMed Link: 25853559

Variant Present in the following documents:

• Main text
• pone.0123716.pdf

View BVdb publication page

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HLA-C -35kb expression SNP is associated with differential control of β-HPV infection in squamous cell carcinoma cases and controls.

Plos One

Vineretsky, Karin A KA; Karagas, Margaret R MR; Kuriger-Laber, Jacquelyn K JK; Waterboer, Tim T; Pawlita, Michael M; Nelson, Heather H HH

Publication Date: 2014

Variant appearance in text: rs7208422

PubMed Link: 25083782

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk of squamous cell skin cancer after organ transplant associated with antibodies to cutaneous papillomaviruses, polyomaviruses, and TMC6/8 (EVER1/2) variants.

Cancer Medicine

Madeleine, Margaret M MM; Carter, Joseph J JJ; Johnson, Lisa G LG; Wipf, Gregory C GC; Davis, Connie C; Berg, Daniel D; Nelson, Karen K; Daling, Janet R JR; Schwartz, Stephen M SM; Galloway, Denise A DA

Publication Date: 2014-10

Variant appearance in text: rs7208422

PubMed Link: 24913986

Variant Present in the following documents:

• Main text
• cam40003-1440.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs7208422

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Cutaneous alpha, beta and gamma human papillomaviruses in relation to squamous cell carcinoma of the skin: a population-based study.

International Journal Of Cancer

Farzan, Shohreh F SF; Waterboer, Tim T; Gui, Jiang J; Nelson, Heather H HH; Li, Zhongze Z; Michael, Kristina M KM; Perry, Ann E AE; Spencer, Steven K SK; Demidenko, Eugene E; Green, Adele C AC; Pawlita, Michael M; Karagas, Margaret R MR

Publication Date: 2013-10-01

Variant appearance in text: rs7208422

PubMed Link: 23536363

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility.

International Journal Of Cancer

Castro, Felipe A FA; Ivansson, Emma L EL; Schmitt, Markus M; Juko-Pecirep, Ivana I; Kjellberg, Lennart L; Hildesheim, Allan A; Gyllensten, Ulf B UB; Pawlita, Michael M

Publication Date: 2012-01-15

Variant appearance in text: rs7208422

PubMed Link: 21387292

Variant Present in the following documents:

• Main text

View BVdb publication page

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A human genome-wide library of local phylogeny predictions for whole-genome inference problems.

Bmc Genomics

Sridhar, Srinath S; Schwartz, Russell R

Publication Date: 2008-08-18

Variant appearance in text: rs7208422

PubMed Link: 18710563

Variant Present in the following documents:

• Main text
• 1471-2164-9-389.pdf

View BVdb publication page

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Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study.

International Journal Of Cancer

Patel, Anita S AS; Karagas, Margaret R MR; Pawlita, Michael M; Waterboer, Tim T; Nelson, Heather H HH

Publication Date: 2008-05-15

Variant appearance in text: rs7208422

PubMed Link: 18224692

Variant Present in the following documents:

• Main text

View BVdb publication page

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