Publications:

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Communications Biology

Cheng, Chi-Keung CK; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Leung, Kam-Tong KT; Chan, Kathy Y Y KYY; Leung, Alex W K AWK; Cheng, Frankie W T FWT; Li, Chi-Kong CK; Wan, Thomas S K TSK; Luo, Xi X; Pitts, Herbert-Augustus HA; Cheung, Joyce S JS; Chan, Natalie P H NPH; Ng, Margaret H L MHL

Publication Date: 2023-03-31

Variant appearance in text: RB1: 1396G>T; E466*

PubMed Link: 37002311

Variant Present in the following documents:

• 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1

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A pan-cancer blueprint of the heterogeneous tumor microenvironment revealed by single-cell profiling.

Cell Research

Qian, Junbin J; Olbrecht, Siel S; Boeckx, Bram B; Vos, Hanne H; Laoui, Damya D; Etlioglu, Emre E; Wauters, Els E; Pomella, Valentina V; Verbandt, Sara S; Busschaert, Pieter P; Bassez, Ayse A; Franken, Amelie A; Bempt, Marlies Vanden MV; Xiong, Jieyi J; Weynand, Birgit B; van Herck, Yannick Y; Antoranz, Asier A; Bosisio, Francesca Maria FM; Thienpont, Bernard B; Floris, Giuseppe G; Vergote, Ignace I; Smeets, Ann A; Tejpar, Sabine S; Lambrechts, Diether D

Publication Date: 2020-09

Variant appearance in text: RB1: E466X

PubMed Link: 32561858

Variant Present in the following documents:

• 41422_2020_355_MOESM15_ESM.xlsx, sheet 1

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: RB1: 1396G>T; E466*

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research

Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S

Publication Date: 2019

Variant appearance in text: RB1: E466*

PubMed Link: 30867899

Variant Present in the following documents:

• Main text
• 13569_2019_112_MOESM5_ESM.xlsx, sheet 1
• 13569_2019_Article_112.pdf

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Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Human Genetics

Cygan, Kamil J KJ; Soemedi, Rachel R; Rhine, Christy L CL; Profeta, Abraham A; Murphy, Eileen L EL; Murray, Michael F MF; Fairbrother, William G WG

Publication Date: 2017-09

Variant appearance in text: RB1: 1396G>T

PubMed Link: 28780672

Variant Present in the following documents:

• Main text

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