Publications:

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Cancers

Ognibene, Marzia M; Scala, Marcello M; Iacomino, Michele M; Schiavetti, Irene I; Madia, Francesca F; Traverso, Monica M; Guerrisi, Sara S; Di Duca, Marco M; Caroli, Francesco F; Baldassari, Simona S; Tappino, Barbara B; Romano, Ferruccio F; Uva, Paolo P; Vozzi, Diego D; Chelleri, Cristina C; Piatelli, Gianluca G; Diana, Maria Cristina MC; Zara, Federico F; Capra, Valeria V; Pavanello, Marco M; De Marco, Patrizia P

Publication Date: 2023-03-22

Variant appearance in text: NF1: 2409+1G>T

PubMed Link: 36980803

Variant Present in the following documents:

• cancers-15-01916.pdf

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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: 2409+1G>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 2409+1G>T

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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