Publications:

Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: NF1: P1548L

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s006.xlsx, sheet 2
• PATH-259-56-s004.xlsx, sheet 2

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: NF1: 4643C>T; Pro1548Leu

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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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: NF1: 4643C>T; P1548L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: P1548L

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.

Scientific Reports

Wong, Stephen Q SQ; Li, Jason J; Salemi, Renato R; Sheppard, Karen E KE; Do, Hongdo H; Tothill, Richard W RW; McArthur, Grant A GA; Dobrovic, Alexander A

Publication Date: 2013-12-13

Variant appearance in text: NF1: 4643C>T

PubMed Link: 24336498

Variant Present in the following documents:

• Main text

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