Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RB1: 2134T>C; Cys712Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinic and genetic similarity assessments of atypical carcinoid, neuroendocrine neoplasm with atypical carcinoid morphology and elevated mitotic count and large cell neuroendocrine carcinoma.

Bmc Cancer

Zhang, Ying Y; Wang, Weiya W; Hu, Qianrong Q; Liang, Zuoyu Z; Zhou, Ping P; Tang, Yuan Y; Jiang, Lili L

Publication Date: 2022-03-24

Variant appearance in text: RB1: 2134T>C; C712R

PubMed Link: 35331190

Variant Present in the following documents:

• 12885_2022_9391_MOESM1_ESM.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: RB1: C712R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: RB1: 2134T>C; Cys712Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.

Frontiers In Genetics

Lan, Xiaoping X; Xu, Wuhen W; Tang, Xiaojun X; Ye, Haiyun H; Song, Xiaozhen X; Lin, Longlong L; Ren, Xiang X; Yu, Guangjun G; Zhang, Hong H; Wu, Shengnan S

Publication Date: 2020

Variant appearance in text: RB1: 2134T>C; C712R

PubMed Link: 32218800

Variant Present in the following documents:

• Main text
• fgene-11-00142.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: RB1: C712R; rs137853296

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.

Bmc Genomics

Aggarwala, Varun V; Ganguly, Arupa A; Voight, Benjamin F BF

Publication Date: 2017-02-14

Variant appearance in text: RB1: C712R

PubMed Link: 28193182

Variant Present in the following documents:

• Main text
• 12864_2017_Article_3522.pdf

View BVdb publication page

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Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Molecular Vision

Singh, Jaya J; Mishra, Avshesh A; Pandian, Arunachalam Jayamuruga AJ; Mallipatna, Ashwin C AC; Khetan, Vikas V; Sripriya, S S; Kapoor, Suman S; Agarwal, Smita S; Sankaran, Satish S; Katragadda, Shanmukh S; Veeramachaneni, Vamsi V; Hariharan, Ramesh R; Subramanian, Kalyanasundaram K; Mannan, Ashraf U AU

Publication Date: 2016

Variant appearance in text: RB1: 2134T>C; Cys712Arg

PubMed Link: 27582626

Variant Present in the following documents:

• Main text
• mv-v22-1036.pdf

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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: RB1: C712R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: RB1: Cys712Arg

PubMed Link: 23820649

Variant Present in the following documents:

• Main text
• 439_2013_Article_1331.pdf

View BVdb publication page

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Folding of a cyclin box: linking multitarget binding to marginal stability, oligomerization, and aggregation of the retinoblastoma tumor suppressor AB pocket domain.

The Journal Of Biological Chemistry

Chemes, Lucía B LB; Noval, María G MG; Sánchez, Ignacio E IE; de Prat-Gay, Gonzalo G

Publication Date: 2013-06-28

Variant appearance in text: RB1: C712R

PubMed Link: 23632018

Variant Present in the following documents:

• Main text

View BVdb publication page

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The human retinoblastoma gene is imprinted.

Plos Genetics

Kanber, Deniz D; Berulava, Tea T; Ammerpohl, Ole O; Mitter, Diana D; Richter, Julia J; Siebert, Reiner R; Horsthemke, Bernhard B; Lohmann, Dietmar D; Buiting, Karin K

Publication Date: 2009-12

Variant appearance in text: RB1: Cys712Arg

PubMed Link: 20041224

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras.

Cell Cycle (Georgetown, Tex.)

Park, Yoonsoo Y; Kubo, Akihito A; Komiya, Takefumi T; Coxon, Amy A; Beebe, Kristin K; Neckers, Len L; Meltzer, Paul S PS; Kaye, Frederic J FJ

Publication Date: 2008-08

Variant appearance in text: RB1: C712R

PubMed Link: 18677112

Variant Present in the following documents:

• Main text

View BVdb publication page

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RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

Bmc Genetics

Valverde, José R JR; Alonso, Javier J; Palacios, Itziar I; Pestaña, Angel A

Publication Date: 2005-11-04

Variant appearance in text: RB1: C712R

PubMed Link: 16269091

Variant Present in the following documents:

• Main text
• 1471-2156-6-53.pdf
• 1471-2156-6-53-S2.xls, sheet 1

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Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

American Journal Of Human Genetics

Richter, Suzanne S; Vandezande, Kirk K; Chen, Ning N; Zhang, Katherine K; Sutherland, Joanne J; Anderson, Julie J; Han, Liping L; Panton, Rachel R; Branco, Patricia P; Gallie, Brenda B

Publication Date: 2003-02

Variant appearance in text: RB1: C712R

PubMed Link: 12541220

Variant Present in the following documents:

• Main text

View BVdb publication page

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