Publications:

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: NF1: L161*

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.

Cancer Research

Nissan, Moriah H MH; Pratilas, Christine A CA; Jones, Alexis M AM; Ramirez, Ricardo R; Won, Helen H; Liu, Cailian C; Tiwari, Shakuntala S; Kong, Li L; Hanrahan, Aphrothiti J AJ; Yao, Zhan Z; Merghoub, Taha T; Ribas, Antoni A; Chapman, Paul B PB; Yaeger, Rona R; Taylor, Barry S BS; Schultz, Nikolaus N; Berger, Michael F MF; Rosen, Neal N; Solit, David B DB

Publication Date: 2014-04-15

Variant appearance in text: NF1: L161*

PubMed Link: 24576830

Variant Present in the following documents:

• Main text

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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: Leu161X

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

American Journal Of Human Genetics

Fahsold, R R; Hoffmeyer, S S; Mischung, C C; Gille, C C; Ehlers, C C; Kücükceylan, N N; Abdel-Nour, M M; Gewies, A A; Peters, H H; Kaufmann, D D; Buske, A A; Tinschert, S S; Nürnberg, P P

Publication Date: 2000-03

Variant appearance in text: NF1: L161X

PubMed Link: 10712197

Variant Present in the following documents:

• Main text

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