Publications:

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Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

International Journal Of Molecular Sciences

Zhu, Di D; Wang, Junwen J; Wang, Yingwei Y; Jiang, Yi Y; Li, Shiqiang S; Xiao, Xueshan X; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2023-03-06

Variant appearance in text: TGFBI: 1998G>C; Arg666Ser

PubMed Link: 36902444

Variant Present in the following documents:

• Main text
• ijms-24-05012.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TGFBI: R666S; rs121909217

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.

Frontiers In Cell And Developmental Biology

Chen, Shihao S; Li, Xing-Yong XY; Jin, Jia-Jia JJ; Shen, Ren-Juan RJ; Mao, Jian-Yang JY; Cheng, Fei-Fei FF; Chen, Zhen-Ji ZJ; Linardaki, Emmanouela E; Voulgaraki, Stavroula S; Aslanides, Ioannis M IM; Jin, Zi-Bing ZB

Publication Date: 2021

Variant appearance in text: TGFBI: 1998G>C; R666S

PubMed Link: 34136477

Variant Present in the following documents:

• Main text
• fcell-09-650344.pdf

View BVdb publication page

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A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Iranian Journal Of Basic Medical Sciences

Mohammadi, Aliasgar A; Ahmadi Shadmehri, Azam A; Taghavi, Mahnaz M; Yaghoobi, Gholamhossein G; Pourreza, Mohammad Reza MR; Tabatabaiefar, Mohammad Amin MA

Publication Date: 2020-08

Variant appearance in text: TGFBI: 1998G>C

PubMed Link: 32952948

Variant Present in the following documents:

• IJBMS-23-1020.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: TGFBI: 1998G>C; Arg666Ser; rs121909217

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: TGFBI: 1998G>C; Arg666Ser; rs121909217

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Scientific Reports

Christie, Kathleen A KA; Courtney, David G DG; DeDionisio, Larry A LA; Shern, Connie Chao CC; De Majumdar, Shyamasree S; Mairs, Laura C LC; Nesbit, M Andrew MA; Moore, C B Tara CBT

Publication Date: 2017-11-23

Variant appearance in text: TGFBI: R666S

PubMed Link: 29170458

Variant Present in the following documents:

• 41598_2017_16279_MOESM1_ESM.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: rs121909217

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Lacritin and other autophagy associated proteins in ocular surface health.

Experimental Eye Research

Karnati, Roy R; Talla, Venu V; Peterson, Katherine K; Laurie, Gordon W GW

Publication Date: 2016-03

Variant appearance in text: TGFBI: R666S

PubMed Link: 26318608

Variant Present in the following documents:

• Main text

View BVdb publication page

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CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Gene Therapy

Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB

Publication Date: 2016-01

Variant appearance in text: N/A

PubMed Link: 26289666

Variant Present in the following documents:

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: N/A

PubMed Link: 26206375

Variant Present in the following documents:

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs121909217

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: TGFBI: 1998G>C

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

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