Publications:

---

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: 1723C>T; Gln575Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Whole-exome sequencing in a patient with synchronous triple primary malignancies involving lung cancer: a case report.

Precision Clinical Medicine

Li, Dan D; Yu, Min M; Zhou, Ping P; Yang, Jie J; Wang, Yongsheng Y

Publication Date: 2020-12

Variant appearance in text: RB1: 1723C>T

PubMed Link: 35692627

Variant Present in the following documents:

• Main text
• pbaa019.pdf

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs587778864

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs587778864

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

---

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications

Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F

Publication Date: 2021-09-22

Variant appearance in text: RB1: Q575X

PubMed Link: 34552068

Variant Present in the following documents:

• 41467_2021_25792_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Retinoblastoma in twins: Risk assessment of genotypic variants.

Indian Journal Of Ophthalmology

Raval, Vishal V; DeBenedictis, Meghan M; Bowen, Randy R; Soto, Hansell H; Davanzo, Jacquelyn J; Singh, Arun A

Publication Date: 2021-05

Variant appearance in text: RB1: 1723C>T

PubMed Link: 33913866

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1723C>T; Q575X

PubMed Link: 33456302

Variant Present in the following documents:

• Main text
• mv-v27-1.pdf

View BVdb publication page

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RB1: 1723C>T; Q575*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer.

Journal Of Clinical Medicine

Casas-Arozamena, Carlos C; Díaz, Eva E; Moiola, Cristian Pablo CP; Alonso-Alconada, Lorena L; Ferreirós, Alba A; Abalo, Alicia A; Gil, Carlos López CL; Oltra, Sara S SS; de Santiago, Javier J; Cabrera, Silvia S; Sampayo, Victoria V; Bouso, Marta M; Arias, Efigenia E; Cueva, Juan J; Colas, Eva E; Vilar, Ana A; Gil-Moreno, Antonio A; Abal, Miguel M; Moreno-Bueno, Gema G; Muinelo-Romay, Laura L

Publication Date: 2020-02-21

Variant appearance in text: RB1: 1723C>T; Gln575Ter

PubMed Link: 32098121

Variant Present in the following documents:

• jcm-09-00585-s001.pdf

View BVdb publication page

---

Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: RB1: Gln575*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging

Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B

Publication Date: 2019-06-29

Variant appearance in text: RB1: 1723C>T

PubMed Link: 31257224

Variant Present in the following documents:

• aging-11-102047-s002.xlsx, sheet 11
• aging-11-102047-s002.xlsx, sheet 13
• aging-11-102047-s002.xlsx, sheet 12

View BVdb publication page

---

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: 1723C>T; Gln575Ter; rs587778864

PubMed Link: 27582626

Variant Present in the following documents:

• Main text
• mv-v22-1036.pdf

View BVdb publication page

---

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Scientific Reports

Kooi, Irsan E IE; Mol, Berber M BM; Massink, Maarten P G MP; Ameziane, Najim N; Meijers-Heijboer, Hanne H; Dommering, Charlotte J CJ; van Mil, Saskia E SE; de Vries, Yne Y; van der Hout, Annemarie H AH; Kaspers, Gertjan J L GJ; Moll, Annette C AC; Te Riele, Hein H; Cloos, Jacqueline J; Dorsman, Josephine C JC

Publication Date: 2016-04-29

Variant appearance in text: RB1: Q575X

PubMed Link: 27126562

Variant Present in the following documents:

• srep25264-s3.xls, sheet 1

View BVdb publication page

---

Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: RB1: Q575X

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: RB1: Q575*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-4.xlsx, sheet 1

View BVdb publication page

---

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: Q575X

PubMed Link: 12541220

Variant Present in the following documents:

• Main text

View BVdb publication page

---