Publications:

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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: 421C>T

PubMed Link: 36300346

Variant Present in the following documents:

• jamaneurol-e223832-s001.pdf

View BVdb publication page

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Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Acta Neurologica Scandinavica

Mönkäre, Saana S; Kuuluvainen, Liina L; Schleutker, Johanna J; Myllykangas, Liisa L; Pöyhönen, Minna M

Publication Date: 2022-11

Variant appearance in text: EGFR: 421C>T

PubMed Link: 36086804

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multigene Panel Sequencing Reveals Cancer-Specific and Common Somatic Mutations in Colorectal Cancer Patients: An Egyptian Experience.

Current Issues In Molecular Biology

Youssef, Amira Salah El-Din ASE; Abdel-Fattah, Mohamed A MA; Lotfy, Mai M MM; Nassar, Auhood A; Abouelhoda, Mohamed M; Touny, Ahmed O AO; Hassan, Zeinab K ZK; Mohey Eldin, Mohammed M; Bahnassy, Abeer A AA; Khaled, Hussein H; Zekri, Abdel Rahman N ARN

Publication Date: 2022-03-18

Variant appearance in text: EGFR: 421C>T

PubMed Link: 35723313

Variant Present in the following documents:

• Main text

View BVdb publication page

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NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Journal Of Neurology, Neurosurgery, And Psychiatry

Cho, Bernard P H BPH; Nannoni, Stefania S; Harshfield, Eric L EL; Tozer, Daniel D; Gräf, Stefan S; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2021-07

Variant appearance in text: EGFR: 421C>T

PubMed Link: 33712516

Variant Present in the following documents:

• jnnp-2020-325838supp001.pdf

View BVdb publication page

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NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Journal Of Neurology, Neurosurgery, And Psychiatry

Cho, Bernard P H BPH; Nannoni, Stefania S; Harshfield, Eric L EL; Tozer, Daniel D; Gräf, Stefan S; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2021-07

Variant appearance in text: EGFR: 421C>T

PubMed Link: 33712516

Variant Present in the following documents:

• jnnp-2020-325838supp001.pdf

View BVdb publication page

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Mutation profile of non-small cell lung cancer revealed by next generation sequencing.

Respiratory Research

Chang, Ya-Sian YS; Tu, Siang-Jyun SJ; Chen, Yu-Chia YC; Liu, Ting-Yuan TY; Lee, Ya-Ting YT; Yen, Ju-Chen JC; Fang, Hsin-Yuan HY; Chang, Jan-Gowth JG

Publication Date: 2021-01-06

Variant appearance in text: EGFR: 421C>T

PubMed Link: 33407425

Variant Present in the following documents:

• 12931_2020_1608_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: ERBB: 421C>T

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme.

Mobile Dna

Carreira, Patricia E PE; Ewing, Adam D AD; Li, Guibo G; Schauer, Stephanie N SN; Upton, Kyle R KR; Fagg, Allister C AC; Morell, Santiago S; Kindlova, Michaela M; Gerdes, Patricia P; Richardson, Sandra R SR; Li, Bo B; Gerhardt, Daniel J DJ; Wang, Jun J; Brennan, Paul M PM; Faulkner, Geoffrey J GJ

Publication Date: 2016

Variant appearance in text: EGFR: 421C>T

PubMed Link: 27843499

Variant Present in the following documents:

• Main text
• 13100_2016_Article_76.pdf

View BVdb publication page

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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: 421C>T

PubMed Link: 26308724

Variant Present in the following documents:

• Main text
• pone.0136501.pdf

View BVdb publication page

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