Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: TEK: R918C

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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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: TEK: 2752C>T; R918C

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Journal Of Clinical Medicine

Paolacci, Stefano S; Mattassi, Raul Ettore RE; Marceddu, Giuseppe G; Manara, Elena E; Zulian, Alessandra A; Guerri, Giulia G; De Antoni, Luca L; Arduino, Carlo C; Cavalca, Daniela D; Bertelli, Matteo M

Publication Date: 2020-10-22

Variant appearance in text: TEK: R918C

PubMed Link: 33105631

Variant Present in the following documents:

• Main text
• jcm-09-03387.pdf

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Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.

Genes, Chromosomes & Cancer

Ten Broek, Roel W RW; Eijkelenboom, Astrid A; van der Vleuten, Carine J M CJM; Kamping, Eveline J EJ; Kets, Marleen M; Verhoeven, Bas H BH; Grünberg, Katrien K; Schultze Kool, Leo J LJ; Tops, Bastiaan B J BBJ; Ligtenberg, Marjolijn J L MJL; Flucke, Uta U

Publication Date: 2019-08

Variant appearance in text: TEK: Arg918Cys

PubMed Link: 30677207

Variant Present in the following documents:

• Main text
• GCC-58-541.pdf

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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: TEK: 2752C>T; R918C

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: VMCM: R918C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TEK: R918C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Molecular Syndromology

Soblet, J J; Limaye, N N; Uebelhoer, M M; Boon, L M LM; Vikkula, M M

Publication Date: 2013-04

Variant appearance in text: TIE2: 2752C>T

PubMed Link: 23801934

Variant Present in the following documents:

• Main text

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Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

European Journal Of Human Genetics : Ejhg

Wouters, Vinciane V; Limaye, Nisha N; Uebelhoer, Melanie M; Irrthum, Alexandre A; Boon, Laurence M LM; Mulliken, John B JB; Enjolras, Odile O; Baselga, Eulalia E; Berg, Jonathan J; Dompmartin, Anne A; Ivarsson, Sten A SA; Kangesu, Loshan L; Lacassie, Yves Y; Murphy, Jill J; Teebi, Ahmad S AS; Penington, Anthony A; Rieu, Paul P; Vikkula, Miikka M

Publication Date: 2010-04

Variant appearance in text: TIE2: 2752C>T

PubMed Link: 19888299

Variant Present in the following documents:

• Main text

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