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: 1392+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.

Neuro-Oncology Advances

Schulte, Jessica D JD; Buerki, Robin A RA; Lapointe, Sarah S; Molinaro, Annette M AM; Zhang, Yalan Y; Villanueva-Meyer, Javier E JE; Perry, Arie A; Phillips, Joanna J JJ; Tihan, Tarik T; Bollen, Andrew W AW; Pekmezci, Melike M; Butowski, Nicholas N; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Chang, Susan M SM; Theodosopoulos, Philip P; Aghi, Manish K MK; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Solomon, David A DA; Clarke, Jennifer L JL

Publication Date: 2020

Variant appearance in text: NF1: 1392+1G>A

PubMed Link: 33354667

Variant Present in the following documents:

• vdaa142_suppl_supplementary_tables.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: 1392+1G>A

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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