Publications:

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The LOVD3 platform: efficient genome-wide sharing of genetic variants.

European Journal Of Human Genetics : Ejhg

Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT

Publication Date: 2021-12

Variant appearance in text: CDKN2A: 373G>A; Asp125Asn

PubMed Link: 34521998

Variant Present in the following documents:

• 41431_2021_959_MOESM4_ESM.pdf

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Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.

Frontiers In Oncology

Cao, Jian J; Yang, Chun-He CH; Han, Wei-Qing WQ; Xie, Yu Y; Liu, Zhi-Zhong ZZ; Jiang, Shu-Suan SS

Publication Date: 2021

Variant appearance in text: CDKN2A: 373G>A

PubMed Link: 34150614

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure

Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA

Publication Date: 2021-06

Variant appearance in text: CDKN2A: 373G>A; D125N

PubMed Link: 33779075

Variant Present in the following documents:

• EHF2-8-1873-s002.xlsx, sheet 1

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: CDKN2A: 373G>A; D125N

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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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: rs146179135

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Genetic basis of SMARCB1 protein loss in 22 sinonasal carcinomas.

Human Pathology

Dogan, Snjezana S; Cotzia, Paolo P; Ptashkin, Ryan N RN; Nanjangud, Gouri J GJ; Xu, Bin B; Momeni Boroujeni, Amir A; Cohen, Marc A MA; Pfister, David G DG; Prasad, Manju L ML; Antonescu, Cristina R CR; Chen, Yingbei Y; Gounder, Mrinal M MM

Publication Date: 2020-10

Variant appearance in text: CDKN2A: 373G>A

PubMed Link: 32818509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Biomedical Reports

Ye, Jun J; Lin, Mei M; Zhang, Chuanmeng C; Zhu, Xiaowei X; Li, Sumeng S; Liu, Hui H; Yin, Jianfeng J; Yu, Hong H; Zhu, Kuichun K

Publication Date: 2020-07

Variant appearance in text: CDKN2A: D125N

PubMed Link: 32440349

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: CDKN2A: D125N

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine

Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM

Publication Date: 2016-05-04

Variant appearance in text: CDKN2A: Asp125Asn

PubMed Link: 27146902

Variant Present in the following documents:

• Main text
• 12967_2016_Article_878.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CDKN2A: D125N

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs146179135

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: CDKN2A: D125N

PubMed Link: 23819521

Variant Present in the following documents:

• Main text
• 1471-2164-14-S3-S7.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: CDKN2A: D125N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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A GTPase distinct from Ran is involved in nuclear protein import.

The Journal Of Cell Biology

Sweet, D J DJ; Gerace, L L

Publication Date: 1996-06

Variant appearance in text: ARF: D125N

PubMed Link: 8655588

Variant Present in the following documents:

• jc1335971.pdf

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