Publications:

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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: 2352G>C; Trp784Cys

PubMed Link: 35885913

Variant Present in the following documents:

• genes-13-01130.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: rs199474778

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: 2352G>C; Trp784Cys

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NF1: W784C; rs199474778

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NF1: W784C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: W784C

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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Targeting oxidative stress in embryonal rhabdomyosarcoma.

Cancer Cell

Chen, Xiang X; Stewart, Elizabeth E; Shelat, Anang A AA; Qu, Chunxu C; Bahrami, Armita A; Hatley, Mark M; Wu, Gang G; Bradley, Cori C; McEvoy, Justina J; Pappo, Alberto A; Spunt, Sheri S; Valentine, Marcus B MB; Valentine, Virginia V; Krafcik, Fred F; Lang, Walter H WH; Wierdl, Monika M; Tsurkan, Lyudmila L; Tolleman, Viktor V; Federico, Sara M SM; Morton, Chris C; Lu, Charles C; Ding, Li L; Easton, John J; Rusch, Michael M; Nagahawatte, Panduka P; Wang, Jianmin J; Parker, Matthew M; Wei, Lei L; Hedlund, Erin E; Finkelstein, David D; Edmonson, Michael M; Shurtleff, Sheila S; Boggs, Kristy K; Mulder, Heather H; Yergeau, Donald D; Skapek, Steve S; Hawkins, Douglas S DS; Ramirez, Nilsa N; Potter, Philip M PM; Sandoval, John A JA; Davidoff, Andrew M AM; Mardis, Elaine R ER; Wilson, Richard K RK; Zhang, Jinghui J; Downing, James R JR; Dyer, Michael A MA; ,

Publication Date: 2013-12-09

Variant appearance in text: NF1: W784C

PubMed Link: 24332040

Variant Present in the following documents:

• Main text

View BVdb publication page

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