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: 45_76del; Ala17fs

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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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: RB1: 33_64del

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: RB1: 45_76delTGCCGCCGCGGAACCCCCGGCACCGCCGCCGC

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: RB1: 45_76delTGCCGCCGCGGAACCCCCGGCACCGCCGCCGC

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.

Cancers

Alekseeva, Ekaterina A EA; Babenko, Olga V OV; Kozlova, Valentina M VM; Ushakova, Tatiana L TL; Kazubskaya, Tatiana P TP; Nemtsova, Marina V MV; Chesnokova, Galina G GG; Mikhaylenko, Dmitry S DS; Bure, Irina V IV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Tanas, Alexander S AS; Kutsev, Sergey I SI; Zaletaev, Dmitry V DV; Strelnikov, Vladimir V VV

Publication Date: 2021-10-10

Variant appearance in text: RB1: 45_76del

PubMed Link: 34680218

Variant Present in the following documents:

• Main text
• cancers-13-05068.pdf

View BVdb publication page

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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology

Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q

Publication Date: 2019-03

Variant appearance in text: RB1: 45_76del; Ala17Profs*3

PubMed Link: 31106028

Variant Present in the following documents:

• tvst-08-02-12_s02.xlsx, sheet 1

View BVdb publication page

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