Publications:

Desmoid fibromatosis in the pharyngeal wall: A case report and literature review.

Clinical Case Reports

Geisenhainer, Katharina K; Klenke, Daniela D; Moser, Norman N; Kurbad, Oliver O; Bremmer, Felix F; Kauffmann, Philipp P; Schliephake, Henning H; Brockmeyer, Phillipp P

Publication Date: 2022-01

Variant appearance in text: ALK: R806H

PubMed Link: 35028152

Variant Present in the following documents:

• Main text
• CCR3-10-e05268.pdf

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One

Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R

Publication Date: 2020

Variant appearance in text: ALK: 2417G>A

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.xlsx, sheet 5
• pone.0235766.s008.xlsx, sheet 3

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Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.

Scientific Reports

Trautmann, Marcel M; Rehkämper, Jan J; Gevensleben, Heidrun H; Becker, Jessica J; Wardelmann, Eva E; Hartmann, Wolfgang W; Grünewald, Inga I; Huss, Sebastian S

Publication Date: 2020-02-25

Variant appearance in text: ALK: R806H

PubMed Link: 32099073

Variant Present in the following documents:

• Main text
• 41598_2020_60237_MOESM1_ESM.pdf
• 41598_2020_Article_60237.pdf

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: ALK: R806H

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

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