Publications:

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Pigmented paravenous retinochoroidal atrophy with acute angle-closure glaucoma and posterior subcapsular cataract: a case report.

Bmc Ophthalmology

Sun, Yilin Y; Li, Jia J; Yu, Li L; Zheng, Yajuan Y

Publication Date: 2022-04-22

Variant appearance in text: CRB1: V162M

PubMed Link: 35459148

Variant Present in the following documents:

• Main text
• 12886_2022_Article_2355.pdf

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: CRB1: 484G>A; V162M; rs137853138

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: CRB1: 484G>A; V162M; rs137853138

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CRB1: 484G>A; Val162Met; rs137853138

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CRB1: V162M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 20

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: CRB1: V162M

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Unilateral pigmented paravenous retinochoroidal atrophy with retinitis pigmentosa in the contralateral eye: A case report.

American Journal Of Ophthalmology Case Reports

Aoki, Shuichiro S; Inoue, Tatsuya T; Kusakabe, Mari M; Fukushima, Masaya M; Kitamoto, Kohdai K; Ogawa, Asako A; Yamamoto, Motoshi M; Obata, Ryo R

Publication Date: 2017-12

Variant appearance in text: CRB1: Val162Met

PubMed Link: 29260108

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

American Journal Of Human Genetics

Luscan, Romain R; Mechaussier, Sabrina S; Paul, Antoine A; Tian, Guoling G; Gérard, Xavier X; Defoort-Dellhemmes, Sabine S; Loundon, Natalie N; Audo, Isabelle I; Bonnin, Sophie S; LeGargasson, Jean-François JF; Dumont, Julien J; Goudin, Nicolas N; Garfa-Traoré, Meriem M; Bras, Marc M; Pouliet, Aurore A; Bessières, Bettina B; Boddaert, Nathalie N; Sahel, José-Alain JA; Lyonnet, Stanislas S; Kaplan, Josseline J; Cowan, Nicholas J NJ; Rozet, Jean-Michel JM; Marlin, Sandrine S; Perrault, Isabelle I

Publication Date: 2017-12-07

Variant appearance in text: CRB1: Val162Met

PubMed Link: 29198720

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CRB1: 484G>A; Val162Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Concurrent retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy phenotypes in the same patient.

Indian Journal Of Ophthalmology

Ratra, Dhanashree D; Chandrasekharan, Dhileesh P DP; Aruldas, P P; Ratra, Vineet V

Publication Date: 2016-10

Variant appearance in text: CRB1: Val162Met

PubMed Link: 27905344

Variant Present in the following documents:

• Main text
• IJO-64-775.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: LCA8: V162M; rs137853138

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: CRB1: V162M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: CRB1: V162M

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One

Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M

Publication Date: 2014

Variant appearance in text: CRB1: 484G>A; Val162Met

PubMed Link: 25133751

Variant Present in the following documents:

• pone.0104281.s001.pdf

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: CRB1: V162M; rs137853138

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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CRB1 mutations in inherited retinal dystrophies.

Human Mutation

Bujakowska, Kinga K; Audo, Isabelle I; Mohand-Saïd, Saddek S; Lancelot, Marie-Elise ME; Antonio, Aline A; Germain, Aurore A; Léveillard, Thierry T; Letexier, Mélanie M; Saraiva, Jean-Paul JP; Lonjou, Christine C; Carpentier, Wassila W; Sahel, José-Alain JA; Bhattacharya, Shomi S SS; Zeitz, Christina C

Publication Date: 2012-02

Variant appearance in text: CRB1: Val162Met

PubMed Link: 22065545

Variant Present in the following documents:

• Main text

View BVdb publication page

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