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: 607+1G>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: RB1: 607+1G>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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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: 607+1G>T

PubMed Link: 34680218

Variant Present in the following documents:

• Main text
• cancers-13-05068.pdf

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Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Molecular And Clinical Oncology

Hoang, Chinh Quoc CQ; Duong, Hong-Quan HQ; Nguyen, Nguyen Thanh NT; Nguyen, Sy Anh Hao SAH; Nguyen, Cuong C; Nguyen, Bo Duy BD; Phung, Lan Tuyet LT; Nguyen, Dung Thuy DT; Pham, Chau Thi Minh CTM; Le Doan, Trang T; Tran, Mai Hoang MH

Publication Date: 2021-09

Variant appearance in text: RB1: 607+1G>T

PubMed Link: 34277001

Variant Present in the following documents:

• Main text

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Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature.

Cancers

Davies, Helen R HR; Broad, Kevin D KD; Onadim, Zerrin Z; Price, Elizabeth A EA; Zou, Xueqing X; Sheriff, Ibrahim I; Karaa, Esin Kotiloğlu EK; Scheimberg, Irene I; Reddy, M Ashwin MA; Sagoo, Mandeep S MS; Ohnuma, Shin-Ichi SI; Nik-Zainal, Serena S

Publication Date: 2021-02-11

Variant appearance in text: RB1: 607+1G>T

PubMed Link: 33670346

Variant Present in the following documents:

• Main text
• cancers-13-00754.pdf

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CDK12-Altered Prostate Cancer: Clinical Features and Therapeutic Outcomes to Standard Systemic Therapies, Poly (ADP-Ribose) Polymerase Inhibitors, and PD-1 Inhibitors.

Jco Precision Oncology

Antonarakis, Emmanuel S ES; Isaacsson Velho, Pedro P; Fu, Wei W; Wang, Hao H; Agarwal, Neeraj N; Sacristan Santos, Victor V; Maughan, Benjamin L BL; Pili, Roberto R; Adra, Nabil N; Sternberg, Cora N CN; Vlachostergios, Panagiotis J PJ; Tagawa, Scott T ST; Bryce, Alan H AH; McNatty, Andrea L AL; Reichert, Zachery R ZR; Dreicer, Robert R; Sartor, Oliver O; Lotan, Tamara L TL; Hussain, Maha M

Publication Date: 2020

Variant appearance in text: RB1: 607+1G>T

PubMed Link: 32462107

Variant Present in the following documents:

• Main text

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One

Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS

Publication Date: 2017

Variant appearance in text: RB1: 607+1G>T

PubMed Link: 28575107

Variant Present in the following documents:

• Main text
• pone.0178776.pdf

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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

Plos Genetics

Eloy, Philippine P; Dehainault, Catherine C; Sefta, Meriem M; Aerts, Isabelle I; Doz, François F; Cassoux, Nathalie N; Lumbroso le Rouic, Livia L; Stoppa-Lyonnet, Dominique D; Radvanyi, François F; Millot, Gaël A GA; Gauthier-Villars, Marion M; Houdayer, Claude C

Publication Date: 2016-02

Variant appearance in text: RB1: 607+1G>T

PubMed Link: 26925970

Variant Present in the following documents:

• Main text
• pgen.1005888.pdf

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Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.

Cancer Letters

Dean, Michael M; Bendfeldt, Giovana G; Lou, Hong H; Giron, Veronica V; Garrido, Claudia C; Valverde, Patricia P; Barnoya, Margarita M; Castellanos, Mauricio M; Jiménez-Morales, Silvia S; Luna-Fineman, Sandra S

Publication Date: 2014-08-28

Variant appearance in text: RB1: 607+1G>T

PubMed Link: 24814393

Variant Present in the following documents:

• Main text

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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: 607+1G>T

PubMed Link: 23820649

Variant Present in the following documents:

• Main text

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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: 607+1G>T

PubMed Link: 16269091

Variant Present in the following documents:

• Main text
• 1471-2156-6-53.pdf

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