Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: TP53: 1129A>C; Thr377Pro

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs774269719

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: T377P

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TP53: T377P

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics

Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S

Publication Date: 2022-03-10

Variant appearance in text: TP53: 1129A>C; T377P; rs774269719

PubMed Link: 35043155

Variant Present in the following documents:

• Main text
• supplementary_figure_s4a_and_b_bbab524.pdf
• supplementary_table_s7_bbab524.xlsx, sheet 2
• bbab524.pdf

View BVdb publication page

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The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics

Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T

Publication Date: 2021-12-16

Variant appearance in text: TP53: T377P

PubMed Link: 34915860

Variant Present in the following documents:

• 12864_2021_8221_MOESM2_ESM.xlsx, sheet 1
• 12864_2021_8221_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics

Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T

Publication Date: 2021-12-16

Variant appearance in text: TP53: T377P

PubMed Link: 34915860

Variant Present in the following documents:

• 12864_2021_8221_MOESM2_ESM.xlsx, sheet 1
• 12864_2021_8221_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Complementary Sequential Circulating Tumor Cell (CTC) and Cell-Free Tumor DNA (ctDNA) Profiling Reveals Metastatic Heterogeneity and Genomic Changes in Lung Cancer and Breast Cancer.

Frontiers In Oncology

Kong, Say Li SL; Liu, Xingliang X; Tan, Swee Jin SJ; Tai, Joyce A JA; Phua, Ler Yee LY; Poh, Huay Mei HM; Yeo, Trifanny T; Chua, Yong Wei YW; Haw, Yu Xuan YX; Ling, Wen Huan WH; Ng, Raymond Chee Hui RCH; Tan, Tira J TJ; Loh, Kiley Wei Jen KWJ; Tan, Daniel Shao-Weng DS; Ng, Quan Sing QS; Ang, Mei Kim MK; Toh, Chee Keong CK; Lee, Yi Fang YF; Lim, Chwee Teck CT; Lim, Tony Kiat Hon TKH; Hillmer, Axel M AM; Yap, Yoon Sim YS; Lim, Wan-Teck WT

Publication Date: 2021

Variant appearance in text: TP53: T377P

PubMed Link: 34336686

Variant Present in the following documents:

• Table_1.xlsx, sheet 6
• Table_1.xlsx, sheet 8

View BVdb publication page

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Status of CHEK2 and p53 in patients with early-onset and conventional gastric cancer.

Oncology Letters

Machlowska, Julita J; Kapusta, Przemysław P; Szlendak, Małgorzata M; Bogdali, Anna A; Morsink, Folkert F; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2021-05

Variant appearance in text: TP53: 1129A>C

PubMed Link: 33747205

Variant Present in the following documents:

• Main text
• ol-21-05-12609.pdf

View BVdb publication page

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Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia

Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE

Publication Date: 2021-09

Variant appearance in text: TP53: T377P

PubMed Link: 33580203

Variant Present in the following documents:

• 41375_2021_1153_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs774269719

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs774269719

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated Informatics Analysis of Cancer-Related Variants.

Jco Clinical Cancer Informatics

Pagel, Kymberleigh A KA; Kim, Rick R; Moad, Kyle K; Busby, Ben B; Zheng, Lily L; Tokheim, Collin C; Ryan, Michael M; Karchin, Rachel R

Publication Date: 2020-03

Variant appearance in text: TP53: T377P

PubMed Link: 32228266

Variant Present in the following documents:

• Main text
• CCI.19.00132.pdf

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: TP53: T377P

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Mutations, Differential Gene Expression, and Chimeric Transcripts in Esophageal Squamous Cell Carcinoma Show High Heterogeneity.

Translational Oncology

Souza-Santos, Paulo Thiago de PT; Soares Lima, Sheila Coelho SC; Nicolau-Neto, Pedro P; Boroni, Mariana M; Meireles Da Costa, Nathalia N; Brewer, Lilian L; Menezes, Albert Nobre AN; Furtado, Carolina C; Moreira, Miguel Angelo Martins MAM; Seuanez, Hector N HN; de Almeida Simão, Tatiana T; Ribeiro Pinto, Luis Felipe LF

Publication Date: 2018-12

Variant appearance in text: TP53: T377P

PubMed Link: 30172240

Variant Present in the following documents:

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TP53: 1129A>C; Thr377Pro

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s1.xlsx, sheet 9
• bty518_supplementary_data_s7.xlsx, sheet 9
• bty518_supplementary_data_s3.xlsx, sheet 9
• bty518_supplementary_data_s4.xlsx, sheet 9

View BVdb publication page

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: T377P

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s007.xlsx, sheet 2
• pone.0189881.s007.xlsx, sheet 3
• pone.0189881.s007.xlsx, sheet 1
• pone.0189881.s007.xlsx, sheet 4

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: TP53: 1129A>C; Thr377Pro; rs774269719

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

View BVdb publication page

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Acid-free glyoxal as a substitute of formalin for structural and molecular preservation in tissue samples.

Plos One

Bussolati, Gianni G; Annaratone, Laura L; Berrino, Enrico E; Miglio, Umberto U; Panero, Mara M; Cupo, Marco M; Gugliotta, Patrizia P; Venesio, Tiziana T; Sapino, Anna A; Marchiò, Caterina C

Publication Date: 2017

Variant appearance in text: TP53: T377P

PubMed Link: 28796828

Variant Present in the following documents:

• pone.0182965.s002.pdf

View BVdb publication page

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Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports

Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V

Publication Date: 2017-03-03

Variant appearance in text: TP53: T377P

PubMed Link: 28256603

Variant Present in the following documents:

• srep42980-s2.xls, sheet 7

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: TP53: 1129A>C

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: T377P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: TP53: 1129A>C; T377P

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page

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Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.

Plos One

Lu, You-Wang YW; Zhang, Hui-Feng HF; Liang, Rui R; Xie, Zhen-Rong ZR; Luo, Hua-You HY; Zeng, Yu-Jian YJ; Xu, Yu Y; Wang, La-Mei LM; Kong, Xiang-Yang XY; Wang, Kun-Hua KH

Publication Date: 2016

Variant appearance in text: TP53: T377P

PubMed Link: 27023146

Variant Present in the following documents:

• pone.0152673.s002.xlsx, sheet 5

View BVdb publication page

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Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms.

Biomed Research International

Burghel, George J GJ; Hurst, Carolyn D CD; Watson, Christopher M CM; Chambers, Phillip A PA; Dickinson, Helen H; Roberts, Paul P; Knowles, Margaret A MA

Publication Date: 2015

Variant appearance in text: TP53: 1129A>C

PubMed Link: 26351634

Variant Present in the following documents:

• Main text
• BMRI2015-478017.pdf

View BVdb publication page

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Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.

Leukemia

Conte, N N; Varela, I I; Grove, C C; Manes, N N; Yusa, K K; Moreno, T T; Segonds-Pichon, A A; Bench, A A; Gudgin, E E; Herman, B B; Bolli, N N; Ellis, P P; Haddad, D D; Costeas, P P; Rad, R R; Scott, M M; Huntly, B B; Bradley, A A; Vassiliou, G S GS

Publication Date: 2013-09

Variant appearance in text: TP53: 1129A>C; T377P

PubMed Link: 23702683

Variant Present in the following documents:

• leu2013117x9.pdf

View BVdb publication page

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