Publications:

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PLA2G6-associated late-onset parkinsonism in a Sudanese family.

Annals Of Clinical And Translational Neurology

Bakhit, Yousuf Y; Tesson, Christelle C; Ibrahim, Mohamed O MO; Eltom, Khalid K; Eltazi, Isra I; Elsayed, Liena E O LEO; Lesage, Suzanne S; Seidi, Osheik O; Corvol, Jean-Christophe JC; Wüllner, Ullrich U; ,

Publication Date: 2023-05-03

Variant appearance in text: GRN: 1544G>C; Gly515Ala; rs25647

PubMed Link: 37139542

Variant Present in the following documents:

• ACN3-10-983-s002.xlsx, sheet 1

View BVdb publication page

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Frontotemporal Dementia and Glucose Metabolism.

Frontiers In Neuroscience

Garrett, Liam Rodney LR; Niccoli, Teresa T

Publication Date: 2022

Variant appearance in text: GRN: G515A

PubMed Link: 35281504

Variant Present in the following documents:

• Main text
• fnins-16-812222.pdf

View BVdb publication page

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Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics

Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S

Publication Date: 2020-02-04

Variant appearance in text: GRN: 1544G>C; Gly515Ala

PubMed Link: 32019516

Variant Present in the following documents:

• 12881_2020_953_MOESM8_ESM.xlsx, sheet 2
• 12881_2020_953_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: GRN: 1544G>C; G515A; rs25647

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: GRN: G515A; rs25647

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

Plos One

Guven, Gamze G; Lohmann, Ebba E; Bras, Jose J; Gibbs, J Raphael JR; Gurvit, Hakan H; Bilgic, Basar B; Hanagasi, Hasmet H; Rizzu, Patrizia P; Heutink, Peter P; Emre, Murat M; Erginel-Unaltuna, Nihan N; Just, Walter W; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R

Publication Date: 2016

Variant appearance in text: GRN: 1544G>C; rs25647

PubMed Link: 27632209

Variant Present in the following documents:

• Main text
• pone.0162592.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: GRN: G515A; rs25647

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs25647

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GRN: G515A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Novel progranulin variants do not disrupt progranulin secretion and cleavage.

Neurobiology Of Aging

Karch, Celeste M CM; Jeng, Amanda T AT; Skorupa, Tara T; Cruchaga, Carlos C; Goate, Alison M AM

Publication Date: 2013-11

Variant appearance in text: GRN: G515A

PubMed Link: 23759146

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Plos One

Cruchaga, Carlos C; Haller, Gabe G; Chakraverty, Sumitra S; Mayo, Kevin K; Vallania, Francesco L M FL; Mitra, Robi D RD; Faber, Kelley K; Williamson, Jennifer J; Bird, Tom T; Diaz-Arrastia, Ramon R; Foroud, Tatiana M TM; Boeve, Bradley F BF; Graff-Radford, Neill R NR; St Jean, Pamela P; Lawson, Michael M; Ehm, Margaret G MG; Mayeux, Richard R; Goate, Alison M AM; ,

Publication Date: 2012

Variant appearance in text: GRN: G515A

PubMed Link: 22312439

Variant Present in the following documents:

• Main text
• pone.0031039.pdf

View BVdb publication page

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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: 1544G>C; G515A; rs25647

PubMed Link: 20142524

Variant Present in the following documents:

• Main text

View BVdb publication page

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A thorough assessment of benign genetic variability in GRN and MAPT.

Human Mutation

Guerreiro, Rita J RJ; Washecka, Nicole N; Hardy, John J; Singleton, Andrew A

Publication Date: 2010-02

Variant appearance in text: GRN: 1544G>C; G515A

PubMed Link: 20020531

Variant Present in the following documents:

• Main text

View BVdb publication page

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