Publications:

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: NF1: 5489G>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: NF1: 5489G>T; Arg1830Leu

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: NF1: R1830L

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_17880_MOESM1_ESM.pdf

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs771529172

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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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: R1830L

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page