Publications:

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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: GRN: 893G>A; Arg298His; rs750810467

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: GRN: R298H; rs750810467

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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A novel phenotype in an Italian family with a rare progranulin mutation.

Journal Of Neurology

Russillo, Maria Claudia MC; Sorrentino, Cristiano C; Scarpa, Alfonso A; Vinciguerra, Claudia C; Cicarelli, Giulio G; Cuoco, Sofia S; Gagliardi, Monica M; Talarico, Mariagrazia M; Procopio, Radha R; Quattrone, Andrea A; Barone, Paolo P; Pellecchia, Maria Teresa MT

Publication Date: 2022-11

Variant appearance in text: GRN: 893G>A; rs750810467

PubMed Link: 35859258

Variant Present in the following documents:

• Main text
• 415_2022_Article_11285.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: GRN: R298H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 45

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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research

Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2017-01

Variant appearance in text: GRN: R298H

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 6
• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 6

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: GRN: 893G>A; R298H

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.

Neurobiology Of Aging

Karch, Celeste M CM; Ezerskiy, Lubov L; Redaelli, Veronica V; Giovagnoli, Anna Rita AR; Tiraboschi, Pietro P; Pelliccioni, Giuseppe G; Pelliccioni, Paolo P; Kapetis, Dimos D; D'Amato, Ilaria I; Piccoli, Elena E; Ferretti, Maria Giulia MG; Tagliavini, Fabrizio F; Rossi, Giacomina G

Publication Date: 2016-02

Variant appearance in text: GRN: R298H

PubMed Link: 26652843

Variant Present in the following documents:

• Main text

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Promoter DNA methylation regulates progranulin expression and is altered in FTLD.

Acta Neuropathologica Communications

Banzhaf-Strathmann, Julia J; Claus, Rainer R; Mücke, Oliver O; Rentzsch, Kristin K; van der Zee, Julie J; Engelborghs, Sebastiaan S; De Deyn, Peter P PP; Cruts, Marc M; van Broeckhoven, Christine C; Plass, Christoph C; Edbauer, Dieter D

Publication Date: 2013-05-13

Variant appearance in text: GRN: R298H

PubMed Link: 24252647

Variant Present in the following documents:

• Main text
• 2051-5960-1-16.pdf

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The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Archives Of Neurology

Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM

Publication Date: 2010-02

Variant appearance in text: GRN: 893G>A

PubMed Link: 20142524

Variant Present in the following documents:

• Main text

View BVdb publication page

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