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: NRAS: 71T>A; Ile24Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Identification of NRAS Diagnostic Biomarkers and Drug Targets for Endometrial Cancer-An Integrated in Silico Approach.

International Journal Of Molecular Sciences

Alessandro, Larsen L; Low, Kat-Jun Eric KE; Abushelaibi, Aisha A; Lim, Swee-Hua Erin SE; Cheng, Wan-Hee WH; Chang, Sook-Keng SK; Lai, Kok-Song KS; Sum, Yap Wai YW; Maran, Sathiya S

Publication Date: 2022-11-18

Variant appearance in text: NRAS: I24N; rs869025573

PubMed Link: 36430761

Variant Present in the following documents:

• Main text
• ijms-23-14285.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: NRAS: 71T>A; Ile24Asn

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

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The RASopathies: from pathogenetics to therapeutics.

Disease Models & Mechanisms

Hebron, Katie E KE; Hernandez, Edjay Ralph ER; Yohe, Marielle E ME

Publication Date: 2022-02-01

Variant appearance in text: NRAS: I24N

PubMed Link: 35178568

Variant Present in the following documents:

• Main text

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The early evolutionary landscape of osteosarcoma provides clues for targeted treatment strategies.

The Journal Of Pathology

Kovac, Michal M; Ameline, Baptiste B; Ribi, Sebastian S; Kovacova, Monika M; Cross, William W; Barenboim, Maxim M; Witt, Olaf O; Bielack, Stefan S; Krieg, Andreas A; Hartmann, Wolfgang W; Nathrath, Michaela M; Baumhoer, Daniel D

Publication Date: 2021-08

Variant appearance in text: NRAS: I24N

PubMed Link: 33963544

Variant Present in the following documents:

• Main text

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: NRAS: I24N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Dunnett-Kane, V V; Burkitt-Wright, E E; Blackhall, F H FH; Malliri, A A; Evans, D G DG; Lindsay, C R CR

Publication Date: 2020-07

Variant appearance in text: NRAS: I24N

PubMed Link: 32240795

Variant Present in the following documents:

• Main text

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Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant.

Journal Of Pediatric Genetics

Rodríguez, Fernando F; Vallejos, Carla C; Bolanos-Garcia, Víctor M VM; Ponce, Diana D; Unanue, Nancy N; Garay, Francisco F; Cassorla, Fernando F; Aracena, Mariana M

Publication Date: 2018-12

Variant appearance in text: NRAS: I24N

PubMed Link: 30430033

Variant Present in the following documents:

• Main text

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Genotype and phenotype spectrum of NRAS germline variants.

European Journal Of Human Genetics : Ejhg

Altmüller, Franziska F; Lissewski, Christina C; Bertola, Debora D; Flex, Elisabetta E; Stark, Zornitza Z; Spranger, Stephanie S; Baynam, Gareth G; Buscarilli, Michelle M; Dyack, Sarah S; Gillis, Jane J; Yntema, Helger G HG; Pantaleoni, Francesca F; van Loon, Rosa LE RL; MacKay, Sara S; Mina, Kym K; Schanze, Ina I; Tan, Tiong Yang TY; Walsh, Maie M; White, Susan M SM; Niewisch, Marena R MR; García-Miñaúr, Sixto S; Plaza, Diego D; Ahmadian, Mohammad Reza MR; Cavé, Hélène H; Tartaglia, Marco M; Zenker, Martin M

Publication Date: 2017-06

Variant appearance in text: NRAS: 71T>A; Ile24Asn

PubMed Link: 28594414

Variant Present in the following documents:

• Main text

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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Plos One

Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A

Publication Date: 2017

Variant appearance in text: NRAS: I24N

PubMed Link: 28542371

Variant Present in the following documents:

• Main text

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Molecular signaling in multiple myeloma: association of RAS/RAF mutations and MEK/ERK pathway activation.

Oncogenesis

Xu, J J; Pfarr, N N; Endris, V V; Mai, E K EK; Md Hanafiah, N H NH; Lehners, N N; Penzel, R R; Weichert, W W; Ho, A D AD; Schirmacher, P P; Goldschmidt, H H; Andrulis, M M; Raab, M S MS

Publication Date: 2017-05-15

Variant appearance in text: NRAS: I24N

PubMed Link: 28504689

Variant Present in the following documents:

• oncsis201736x2.pdf

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Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

European Journal Of Human Genetics : Ejhg

Mason-Suares, Heather H; Toledo, Diana D; Gekas, Jean J; Lafferty, Katherine A KA; Meeks, Naomi N; Pacheco, M Cristina MC; Sharpe, David D; Mullen, Thomas E TE; Lebo, Matthew S MS

Publication Date: 2017-04

Variant appearance in text: NRAS: 71T>A; Ile24Asn

PubMed Link: 28098151

Variant Present in the following documents:

• Main text

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: NRAS: 71T>A; Ile24Asn

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

Genetics And Molecular Biology

Linhares, Natália Duarte ND; Freire, Maíra Cristina Menezes MC; Cardenas, Raony Guimarães Corrêa do Carmo Lisboa RG; Pena, Heloisa Barbosa HB; Lachlan, Katherine K; Dallapiccola, Bruno B; Bacino, Carlos C; Delobel, Bruno B; James, Paul P; Thuresson, Ann-Charlotte AC; Annerén, Göran G; Pena, Sérgio D J SD

Publication Date: 2016

Variant appearance in text: NRAS: Ile24Asn

PubMed Link: 27561113

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-1678-4685-GMB-2016-0049.pdf

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Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Bmc Medical Genetics

Ekvall, Sara S; Wilbe, Maria M; Dahlgren, Jovanna J; Legius, Eric E; van Haeringen, Arie A; Westphal, Otto O; Annerén, Göran G; Bondeson, Marie-Louise ML

Publication Date: 2015-10-14

Variant appearance in text: NRAS: I24N

PubMed Link: 26467218

Variant Present in the following documents:

• Main text

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RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms

Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY

Publication Date: 2015-08-01

Variant appearance in text: NRAS: I24N

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

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NRAS Mutations in Noonan Syndrome.

Molecular Syndromology

Denayer, E E; Peeters, H H; Sevenants, L L; Derbent, M M; Fryns, J P JP; Legius, E E

Publication Date: 2012-06

Variant appearance in text: NRAS: 71T>A; Ile24Asn

PubMed Link: 22855653

Variant Present in the following documents:

• Main text

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Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Disease Models & Mechanisms

Runtuwene, Vincent V; van Eekelen, Mark M; Overvoorde, John J; Rehmann, Holger H; Yntema, Helger G HG; Nillesen, Willy M WM; van Haeringen, Arie A; van der Burgt, Ineke I; Burgering, Boudewijn B; den Hertog, Jeroen J

Publication Date: 2011-05

Variant appearance in text: NRAS: 71T>A; I24N

PubMed Link: 21263000

Variant Present in the following documents:

• Main text

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