Publications:

Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: IGF1R: 1382G>T; R461L

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: IGF1R: 1382G>T; R461L

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

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Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Kawashima-Sonoyama, Yuki Y; Hotsubo, Tomoyuki T; Hamajima, Takashi T; Hamajima, Naoki N; Fujimoto, Masanobu M; Namba, Noriyuki N; Kanzaki, Susumu S

Publication Date: 2022

Variant appearance in text: IGF1R: Arg461Leu

PubMed Link: 35431446

Variant Present in the following documents:

• Main text
• cpe-31-059.pdf

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Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.

Cold Spring Harbor Molecular Case Studies

Jacobs, Annalise A; Burns, Catherine C; Patel, Purva P; Treat, Kayla K; Helm, Benjamin M BM; Conboy, Erin E; Vetrini, Francesco F

Publication Date: 2022-02

Variant appearance in text: IGF1R: Arg461Leu

PubMed Link: 35091507

Variant Present in the following documents:

• Main text
• MCS006170Jac.pdf

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Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.

The Journal Of Biological Chemistry

Rotwein, Peter P

Publication Date: 2017-06-02

Variant appearance in text: IGF1R: R461L

PubMed Link: 28389567

Variant Present in the following documents:

• Main text

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