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: 3456dup; Leu1153fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors.

Sarcoma

Knewitz, Daniel K DK; Anderson, Colin J CJ; Presley, William T WT; Horodyski, MaryBeth M; Scarborough, Mark T MT; Wallace, Margaret R MR

Publication Date: 2021

Variant appearance in text: NF1: 3456_3457insA

PubMed Link: 34646065

Variant Present in the following documents:

• Main text
• sarcoma2021-9386823.pdf

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Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; VanSant-Webb, Chad C; Sant, David D; Carey, John J; Hanson, Heather H; D'Astous, Jacques J; Viskochil, Dave D; Stevenson, David A DA; Mao, Rong R

Publication Date: 2017-05

Variant appearance in text: NF1: 3456dupA; Leu1153Thrfs*42

PubMed Link: 28433079

Variant Present in the following documents:

• Main text

View BVdb publication page