Publications:

---

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: EGFR: L90F

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 4

View BVdb publication page

---

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: EGFR: L90F; rs750399097

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: rs750399097

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Jama Neurology

Cho, Bernard P H BPH; Harshfield, Eric L EL; Al-Thani, Maha M; Tozer, Daniel J DJ; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2022-10-27

Variant appearance in text: EGFR: 268C>T

PubMed Link: 36300346

Variant Present in the following documents:

• jamaneurol-e223832-s001.pdf

View BVdb publication page

---

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.

Cns Neuroscience & Therapeutics

Ni, Wang W; Zhang, Yi Y; Zhang, Liang L; Xie, Juan-Juan JJ; Li, Hong-Fu HF; Wu, Zhi-Ying ZY

Publication Date: 2022-11

Variant appearance in text: EGFR: 268C>T

PubMed Link: 35822697

Variant Present in the following documents:

• Main text
• CNS-28-1779.pdf

View BVdb publication page

---

Integrative Bioinformatics approaches to therapeutic gene target selection in various cancers for Nitroglycerin.

Scientific Reports

Chinnappan, Jayaprakash J; Ramu, Akilandeswari A; V, Vidhya Rajalakshmi VR; S, Akil Kavya AK

Publication Date: 2021-11-11

Variant appearance in text: EGFR: L90F

PubMed Link: 34764329

Variant Present in the following documents:

• Main text
• 41598_2021_Article_1508.pdf

View BVdb publication page

---

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: EGFR: 268C>T; Leu90Phe

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

---

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

Plos One

Liao, Yi-Chu YC; Hsiao, Cheng-Tsung CT; Fuh, Jong-Ling JL; Chern, Chang-Ming CM; Lee, Wei-Ju WJ; Guo, Yuh-Cherng YC; Wang, Shuu-Jiun SJ; Lee, I-Hui IH; Liu, Yo-Tsen YT; Wang, Yen-Feng YF; Chang, Feng-Chi FC; Chang, Ming-Hung MH; Soong, Bing-Wen BW; Lee, Yi-Chung YC

Publication Date: 2015

Variant appearance in text: EGFR: 268C>T

PubMed Link: 26308724

Variant Present in the following documents:

• Main text
• pone.0136501.pdf

View BVdb publication page

---