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: 2674del; Ser892fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

International Journal Of Molecular Sciences

Mayo, Sonia S; Gómez-Manjón, Irene I; Fernández-Martínez, Francisco Javier FJ; Camacho, Ana A; Martínez, Francisco F; Benito-León, Julián J

Publication Date: 2022-04-28

Variant appearance in text: NF1: 2674del

PubMed Link: 35563270

Variant Present in the following documents:

• ijms-23-04879.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: 2674_2674delA; Ser892Alafs*10

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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Assessment of genetic variant burden in epilepsy-associated brain lesions.

European Journal Of Human Genetics : Ejhg

Niestroj, Lisa-Marie LM; May, Patrick P; Artomov, Mykyta M; Kobow, Katja K; Coras, Roland R; Pérez-Palma, Eduardo E; Altmüller, Janine J; Thiele, Holger H; Nürnberg, Peter P; Leu, Costin C; Palotie, Aarno A; Daly, Mark J MJ; Klein, Karl Martin KM; Beschorner, Rudi R; Weber, Yvonne G YG; Blümcke, Ingmar I; Lal, Dennis D

Publication Date: 2019-11

Variant appearance in text: NF1: 2674del; S892Afs*10

PubMed Link: 31358956

Variant Present in the following documents:

• Main text

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