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: 2533T>C; Cys845Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genomic patterns of malignant peripheral nerve sheath tumor (MPNST) evolution correlate with clinical outcome and are detectable in cell-free DNA.

Cancer Discovery

Cortes-Ciriano, Isidro I; Steele, Christopher D CD; Piculell, Katherine K; Al-Ibraheemi, Alyaa A; Eulo, Vanessa V; Bui, Marilyn M MM; Chatzipli, Aikaterini A; Dickson, Brendan C BC; Borcherding, Dana C DC; Feber, Andrew A; Galor, Alon A; Hart, Jesse J; Jones, Kevin B KB; Jordan, Justin T JT; Kim, Raymond H RH; Lindsay, Daniel D; Miller, Colin C; Nishida, Yoshihiro Y; Proszek, Paula Z PZ; Serrano, Jonathan J; Sundby, R Taylor RT; Szymanski, Jeffrey J JJ; Ullrich, Nicole J NJ; Viskochil, David D; Wang, Xia X; Snuderl, Matija M; Park, Peter J PJ; Flanagan, Adrienne M AM; Hirbe, Angela C AC; Pillay, Nischalan N; Miller, David T DT

Publication Date: 2023-01-04

Variant appearance in text: NF1: C845R

PubMed Link: 36598417

Variant Present in the following documents:

• cd-22-0786_supplementary_tables_s1_and_s2_suppst1.xlsx, sheet 1

View BVdb publication page

---

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: NF1: C845R

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

---

Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: NF1: C845R

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology

Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM

Publication Date: 2020-10

Variant appearance in text: NF1: 2533T>C

PubMed Link: 32666581

Variant Present in the following documents:

• Main text
• PATH-252-151.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NF1: C845R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: NF1: 2533T>C; C845R

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: NF1: 2533T>C

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1
• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

American Journal Of Human Genetics

Koczkowska, Magdalena M; Chen, Yunjia Y; Callens, Tom T; Gomes, Alicia A; Sharp, Angela A; Johnson, Sherrell S; Hsiao, Meng-Chang MC; Chen, Zhenbin Z; Balasubramanian, Meena M; Barnett, Christopher P CP; Becker, Troy A TA; Ben-Shachar, Shay S; Bertola, Debora R DR; Blakeley, Jaishri O JO; Burkitt-Wright, Emma M M EMM; Callaway, Alison A; Crenshaw, Melissa M; Cunha, Karin S KS; Cunningham, Mitch M; D'Agostino, Maria D MD; Dahan, Karin K; De Luca, Alessandro A; Destrée, Anne A; Dhamija, Radhika R; Eoli, Marica M; Evans, D Gareth R DGR; Galvin-Parton, Patricia P; George-Abraham, Jaya K JK; Gripp, Karen W KW; Guevara-Campos, Jose J; Hanchard, Neil A NA; Hernández-Chico, Concepcion C; Immken, LaDonna L; Janssens, Sandra S; Jones, Kristi J KJ; Keena, Beth A BA; Kochhar, Aaina A; Liebelt, Jan J; Martir-Negron, Arelis A; Mahoney, Maurice J MJ; Maystadt, Isabelle I; McDougall, Carey C; McEntagart, Meriel M; Mendelsohn, Nancy N; Miller, David T DT; Mortier, Geert G; Morton, Jenny J; Pappas, John J; Plotkin, Scott R SR; Pond, Dinel D; Rosenbaum, Kenneth K; Rubin, Karol K; Russell, Laura L; Rutledge, Lane S LS; Saletti, Veronica V; Schonberg, Rhonda R; Schreiber, Allison A; Seidel, Meredith M; Siqveland, Elizabeth E; Stockton, David W DW; Trevisson, Eva E; Ullrich, Nicole J NJ; Upadhyaya, Meena M; van Minkelen, Rick R; Verhelst, Helene H; Wallace, Margaret R MR; Yap, Yoon-Sim YS; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen K; Martin, Yolanda Y; Korf, Bruce R BR; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2018-01-04

Variant appearance in text: NF1: 2533T>C; Cys845Arg

PubMed Link: 29290338

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 1
• mmc3.pdf
• mmc1.pdf
• main.pdf

View BVdb publication page

---

Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: NF1: C845R

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NF1: 2533T>C; C845R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: NF1: C845R

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Paria, Nandina N; Cho, Tae-Joon TJ; Choi, In Ho IH; Kamiya, Nobuhiro N; Kayembe, Kay K; Mao, Rong R; Margraf, Rebecca L RL; Obermosser, Gerlinde G; Oxendine, Ila I; Sant, David W DW; Song, Mi Hyun MH; Stevenson, David A DA; Viskochil, David H DH; Wise, Carol A CA; Kim, Harry K W HK; Rios, Jonathan J JJ

Publication Date: 2014-12

Variant appearance in text: NF1: 2533T>C; Cys845Arg

PubMed Link: 24932921

Variant Present in the following documents:

• Main text

View BVdb publication page

---