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: 82C>T; Gln28Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Mixed Pulmonary Adenocarcinoma and Atypical Carcinoid: A Report of Two Cases of a Non-codified Entity With Biological Profile.

Frontiers In Molecular Biosciences

Parente, Paola P; Rossi, Antonio A; Sparaneo, Angelo A; Fabrizio, Federico Pio FP; Centonza, Antonella A; Taurchini, Marco M; Mazza, Tommaso T; Cassano, Maurizio M; Miscio, Giuseppe G; Centra, Flavia F; Ferretti, Gian Maria GM; Di Micco, Concetta Martina CM; Graziano, Paolo P; Muscarella, Lucia Anna LA

Publication Date: 2021

Variant appearance in text: NF1: Gln28Ter

PubMed Link: 34926584

Variant Present in the following documents:

• Main text
• fmolb-08-784876.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: NF1: 82C>T; Gln28Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Comprehensive Genetic Characterization of Human Thyroid Cancer Cell Lines: A Validated Panel for Preclinical Studies.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Landa, Iñigo I; Pozdeyev, Nikita N; Korch, Christopher C; Marlow, Laura A LA; Smallridge, Robert C RC; Copland, John A JA; Henderson, Ying C YC; Lai, Stephen Y SY; Clayman, Gary L GL; Onoda, Naoyoshi N; Tan, Aik Choon AC; Garcia-Rendueles, Maria E R MER; Knauf, Jeffrey A JA; Haugen, Bryan R BR; Fagin, James A JA; Schweppe, Rebecca E RE

Publication Date: 2019-05-15

Variant appearance in text: NF1: Q28*

PubMed Link: 30737244

Variant Present in the following documents:

• Main text

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs771764281

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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