Publications:

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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: 2329T>A; Trp777Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 2329T>A; Trp777Arg

PubMed Link: 36612057

Variant Present in the following documents:

• cancers-15-00059.pdf

View BVdb publication page

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Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.

Journal Of Clinical Medicine

Hannah-Shmouni, Fady F; Trivellin, Giampaolo G; Beckers, Pablo P; Karaviti, Lefkothea P LP; Lodish, Maya M; Tatsi, Christina C; Adesina, Adekunle M AM; Adamidou, Fotini F; Mintziori, Gesthimani G; Josefson, Jami L JL; Quezado, Martha M; Stratakis, Constantine A CA

Publication Date: 2022-04-13

Variant appearance in text: NF1: 2329T>A; Trp777Arg

PubMed Link: 35456261

Variant Present in the following documents:

• Main text
• jcm-11-02168.pdf

View BVdb publication page

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Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.

Frontiers In Endocrinology

Yu, Chenxi C; Xie, Bobo B; Zhao, Zhengye Z; Zhao, Sen S; Liu, Lian L; Cheng, Xi X; Li, Xiaoxin X; Cao, Bingyan B; Shao, Jiashen J; Chen, Jiajia J; Zhao, Hengqiang H; Yan, Zihui Z; Su, Chang C; Niu, Yuchen Y; Song, Yanning Y; Wei, Liya L; Wang, Yi Y; Ren, Xiaoya X; Fan, Lijun L; Zhang, Beibei B; Li, Chuan C; Gui, Baoheng B; Zhang, Yuanqiang Y; Wang, Lianlei L; Chen, Shaoke S; Zhang, Jianguo J; Wu, Zhihong Z; Gong, Chunxiu C; Fan, Xin X; Wu, Nan N

Publication Date: 2021

Variant appearance in text: NF1: 2329T>A; Trp777Arg

PubMed Link: 34589056

Variant Present in the following documents:

• Main text
• fendo-12-711991.pdf

View BVdb publication page

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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: 2329T>A; Trp777Arg

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: NF1: 2329T>A; W777R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Ebiomedicine

Evans, D G DG; Bowers, N N; Burkitt-Wright, E E; Miles, E E; Garg, S S; Scott-Kitching, V V; Penman-Splitt, M M; Dobbie, A A; Howard, E E; Ealing, J J; Vassalo, G G; Wallace, A J AJ; Newman, W W; , ; Huson, S M SM

Publication Date: 2016-05

Variant appearance in text: NF1: Trp777Arg

PubMed Link: 27322474

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: W777R

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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