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: 1595T>G; Leu532Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Human Genomics

Yun, Jiwon J; Song, Hyojin H; Kim, Sung-Min SM; Kim, Soonok S; Kwon, Seok Ryun SR; Lee, Young Eun YE; Jeong, Dajeong D; Park, Jae Hyeon JH; Kwon, Sunghoon S; Yun, Hongseok H; Lee, Dong Soon DS

Publication Date: 2023-02-23

Variant appearance in text: NF1: 1595T>G; Leu532Arg

PubMed Link: 36814285

Variant Present in the following documents:

• Main text
• 40246_2023_Article_458.pdf
• 40246_2023_458_MOESM2_ESM.xlsx, sheet 1

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers

Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M

Publication Date: 2022-12-22

Variant appearance in text: NF1: 1595T>G; Leu532Arg

PubMed Link: 36612057

Variant Present in the following documents:

• Main text
• cancers-15-00059.pdf

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Genes

Napolitano, Filomena F; Dell'Aquila, Milena M; Terracciano, Chiara C; Franzese, Giuseppina G; Gentile, Maria Teresa MT; Piluso, Giulio G; Santoro, Claudia C; Colavito, Davide D; Patanè, Anna A; De Blasiis, Paolo P; Sampaolo, Simone S; Paladino, Simona S; Melone, Mariarosa Anna Beatrice MAB

Publication Date: 2022-06-23

Variant appearance in text: NF1: 1595T>G; Leu532Arg

PubMed Link: 35885913

Variant Present in the following documents:

• Main text
• genes-13-01130.pdf

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