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: 1251_1252del; Arg418fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: RB1: 1251_1252delAA; R418Sfs*9

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.

Ophthalmology Science

Abramson, David H DH; Mandelker, Diana D; Francis, Jasmine H JH; Dunkel, Ira J IJ; Brannon, A Rose AR; Benayed, Ryma R; Berger, Michael F MF; Arcila, Maria E ME; Ladanyi, Marc M; Friedman, Danielle Novetsky DN; Jayakumaran, Gowtham G; Diosdado, Monica S MS; Robbins, Melissa A MA; Haggag-Lindgren, Dianna D; Shukla, Neerav N; Walsh, Michael M; Kothari, Prachi P; Tsui, Dana W Y DWY

Publication Date: 2021-03

Variant appearance in text: RB1: 1251_1252delAA; R418Sfs

PubMed Link: 36246006

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision

Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P

Publication Date: 2021

Variant appearance in text: RB1: 1249_1250del; R418Sfs*9

PubMed Link: 33456302

Variant Present in the following documents:

• Main text
• mv-v27-1.pdf

View BVdb publication page

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Correction: Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.

The British Journal Of Ophthalmology

Publication Date: 2020-03

Variant appearance in text: RB1: 1251_1252delAA

PubMed Link: 31676598

Variant Present in the following documents:

• bjophthalmol-2018-313005corr1.pdf

View BVdb publication page

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Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.

The British Journal Of Ophthalmology

Gerrish, Amy A; Stone, Edward E; Clokie, Samuel S; Ainsworth, John R JR; Jenkinson, Helen H; McCalla, Maureen M; Hitchcott, Carol C; Colmenero, Isabel I; Allen, Stephanie S; Parulekar, Manoj M; Cole, Trevor T

Publication Date: 2019-02-11

Variant appearance in text: RB1: 1251_1252delAA

PubMed Link: 30745306

Variant Present in the following documents:

• Main text
• bjophthalmol-2018-313005.pdf

View BVdb publication page

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