Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 236T>G; Leu79Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genomic and transcriptomic landscape of conjunctival melanoma.

Plos Genetics

Cisarova, Katarina K; Folcher, Marc M; El Zaoui, Ikram I; Pescini-Gobert, Rosanna R; Peter, Virginie G VG; Royer-Bertrand, Beryl B; Zografos, Leonidas L; Schalenbourg, Ann A; Nicolas, Michael M; Rimoldi, Donata D; Leyvraz, Serge S; Riggi, Nicolò N; Moulin, Alexandre P AP; Rivolta, Carlo C

Publication Date: 2020-12

Variant appearance in text: NF1: 236T>G; L79*

PubMed Link: 33383577

Variant Present in the following documents:

• pgen.1009201.s006.xlsx, sheet 1

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 236T>G; Leu79*

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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