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: 3974+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A prostate cancer patient with isolated lung metastases: a case report.

Translational Cancer Research

Wu, Li-Xin LX; Lei, Lei L; Zhu, You-Cai YC; Du, Kai-Qi KQ; Li, Xiao-Feng XF; Chen, Hua-Fei HF; Wang, Wen-Xian WX; Xu, Chun-Wei CW

Publication Date: 2020-03

Variant appearance in text: NF1: 3974+1G>A

PubMed Link: 35117556

Variant Present in the following documents:

• Main text
• tcr-09-03-2064.pdf

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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: 3974+1G>A

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Genes

Pinna, Valentina V; Daniele, Paola P; Calcagni, Giulio G; Mariniello, Lucio L; Criscione, Roberta R; Giardina, Chiara C; Lepri, Francesca Romana FR; Hozhabri, Hossein H; Alberico, Angela A; Cavone, Stefania S; Morella, Annunziata Tina AT; Mandile, Roberta R; Annunziata, Francesca F; Di Giosaffatte, Niccolò N; D'Asdia, Maria Cecilia MC; Versacci, Paolo P; Capolino, Rossella R; Strisciuglio, Pietro P; Giustini, Sandra S; Melis, Daniela D; Digilio, Maria Cristina MC; Tartaglia, Marco M; Marino, Bruno B; De Luca, Alessandro A

Publication Date: 2019-09-04

Variant appearance in text: NF1: 3974+1G>A

PubMed Link: 31487937

Variant Present in the following documents:

• genes-10-00675-s001.xlsx, sheet 1

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