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: 994C>T

PubMed Link: 36300346

Variant Present in the following documents:

• jamaneurol-e223832-s001.pdf

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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: 994C>T

PubMed Link: 35822697

Variant Present in the following documents:

• Main text
• CNS-28-1779.pdf

View BVdb publication page

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: EGFR: P332S

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: EGFR: P332S

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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: 994C>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: 994C>T

PubMed Link: 33712516

Variant Present in the following documents:

• jnnp-2020-325838supp001.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: EGFR: 994C>T; P332S

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: EGFR: 994C>T; P332S

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: EGFR: P332S

PubMed Link: 26388441

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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: 994C>T

PubMed Link: 26308724

Variant Present in the following documents:

• Main text
• pone.0136501.pdf

View BVdb publication page

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