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: 19dup; Arg7fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

International Ophthalmology

Li, Luting L; Li, Haibo H; Zhang, Jing J; Gan, Hairun H; Liu, Ruihong R; Hu, Xinyan X; Pang, Pengfei P; Li, Bing B

Publication Date: 2022-11

Variant appearance in text: RB1: 19dup; Arg7Profs*24

PubMed Link: 35960463

Variant Present in the following documents:

• Main text
• 10792_2022_Article_2341.pdf

View BVdb publication page

---

IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: RB1: 19dup; Arg7ProfsTer24; rs1131690852

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: RB1: 19dup; Arg7ProfsTer24; rs1131690852

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Chronic myelogenous leukemia in a child following treatment for bilateral retinoblastoma.

Oman Journal Of Ophthalmology

Al-Mahrouqi, Haitham Hilal HH; Ganesh, Anuradha A; Al-Rawas, Abdulhakim A; Khetan, Vikas V; Al-Zuhaibi, Sana S

Publication Date: 2021

Variant appearance in text: RB1: Arg7Profs*24

PubMed Link: 34880582

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications

Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N

Publication Date: 2021-09-14

Variant appearance in text: RB1: 19dup; Arg7ProfsTer24

PubMed Link: 34521849

Variant Present in the following documents:

• 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Frontiers In Oncology

Yuan, Ting T; Wang, Xin X; Sun, Sijin S; Cao, Zheng Z; Feng, Xiaoli X; Gao, Yibo Y

Publication Date: 2021

Variant appearance in text: RB1: 19dup; Arg7fs

PubMed Link: 34168983

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 3

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: 14dupC; R7Pfs*24

PubMed Link: 33456302

Variant Present in the following documents:

• Main text
• mv-v27-1.pdf

View BVdb publication page

---

Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

Molecular Vision

Mohd Khalid, Mohd Khairul Nizam MK; Yakob, Yusnita Y; Md Yasin, Rohani R; Wee Teik, Keng K; Siew, Ch'ng Gaik CG; Rahmat, Jamalia J; Ramasamy, Sunder S; Alagaratnam, Joseph J

Publication Date: 2015

Variant appearance in text: RB1: 19dup; Arg7Profs*24

PubMed Link: 26539030

Variant Present in the following documents:

• Main text
• mv-v21-1185.pdf

View BVdb publication page

---