Publications:

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN2: A85V

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

View BVdb publication page

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: PSEN2: Ala85Val

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Genome Medicine

Perrone, Federica F; Cacace, Rita R; van der Zee, Julie J; Van Broeckhoven, Christine C

Publication Date: 2021-04-14

Variant appearance in text: PSEN2: A85V

PubMed Link: 33853652

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microglial Heterogeneity and Its Potential Role in Driving Phenotypic Diversity of Alzheimer's Disease.

International Journal Of Molecular Sciences

Sorrentino, Stefano S; Ascari, Roberto R; Maderna, Emanuela E; Catania, Marcella M; Ghetti, Bernardino B; Tagliavini, Fabrizio F; Giaccone, Giorgio G; Di Fede, Giuseppe G

Publication Date: 2021-03-09

Variant appearance in text: PS2: A85V

PubMed Link: 33803478

Variant Present in the following documents:

• ijms-22-02780-s001.pdf

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: PSEN2: A85V

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PSEN2: A85V; rs63750048

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Dementia with Lewy bodies: an update and outlook.

Molecular Neurodegeneration

Outeiro, Tiago Fleming TF; Koss, David J DJ; Erskine, Daniel D; Walker, Lauren L; Kurzawa-Akanbi, Marzena M; Burn, David D; Donaghy, Paul P; Morris, Christopher C; Taylor, John-Paul JP; Thomas, Alan A; Attems, Johannes J; McKeith, Ian I

Publication Date: 2019-01-21

Variant appearance in text: PSEN2: A85V; rs63750048

PubMed Link: 30665447

Variant Present in the following documents:

• Main text
• 13024_2019_Article_306.pdf

View BVdb publication page

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Identification of missing variants by combining multiple analytic pipelines.

Bmc Bioinformatics

Ren, Yingxue Y; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Tian, Shulan S; Sinnwell, Jason P JP; McDonnell, Shannon K SK; Biernacka, Joanna M JM; Carrasquillo, Minerva M MM; Ross, Owen A OA; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew M; Mainzer, Liudmila Sergeevna LS; Asmann, Yan W YW

Publication Date: 2018-04-16

Variant appearance in text: PSEN2: A85V

PubMed Link: 29661148

Variant Present in the following documents:

• Main text
• 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1
• 12859_2018_Article_2151.pdf

View BVdb publication page

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Molecular subtypes of Alzheimer's disease.

Scientific Reports

Di Fede, Giuseppe G; Catania, Marcella M; Maderna, Emanuela E; Ghidoni, Roberta R; Benussi, Luisa L; Tonoli, Elisa E; Giaccone, Giorgio G; Moda, Fabio F; Paterlini, Anna A; Campagnani, Ilaria I; Sorrentino, Stefano S; Colombo, Laura L; Kubis, Adriana A; Bistaffa, Edoardo E; Ghetti, Bernardino B; Tagliavini, Fabrizio F

Publication Date: 2018-02-19

Variant appearance in text: PS2: A85V

PubMed Link: 29459625

Variant Present in the following documents:

• Main text

View BVdb publication page

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Translational Research in Alzheimer's and Prion Diseases.

Journal Of Alzheimer'S Disease : Jad

Di Fede, Giuseppe G; Giaccone, Giorgio G; Salmona, Mario M; Tagliavini, Fabrizio F

Publication Date: 2018

Variant appearance in text: PSEN2: A85V

PubMed Link: 29172000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Plos Genetics

Fernández, Maria Victoria MV; Kim, Jong Hun JH; Budde, John P JP; Black, Kathleen K; Medvedeva, Alexandra A; Saef, Ben B; Deming, Yuetiva Y; Del-Aguila, Jorge J; Ibañez, Laura L; Dube, Umber U; Harari, Oscar O; Norton, Joanne J; Chasse, Rachel R; Morris, John C JC; Goate, Alison A; , ; , ; Cruchaga, Carlos C

Publication Date: 2017-11

Variant appearance in text: PSEN2: Ala85Val

PubMed Link: 29091718

Variant Present in the following documents:

• Main text
• pgen.1007045.pdf

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: PSEN2: A85V

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 3

View BVdb publication page

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: PSEN2: 254C>T; A85V

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 3

View BVdb publication page

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A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.

Clinical Interventions In Aging

Park, Kyung Won KW; An, Seong Soo SS; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2017

Variant appearance in text: PSEN2: A85V

PubMed Link: 28243073

Variant Present in the following documents:

• Main text
• cia-12-367.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PSEN2: 254C>T; A85V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a Japanese Population.

Dementia And Geriatric Cognitive Disorders Extra

Suzuki, Ayako A; Shibata, Nobuto N; Kasanuki, Koji K; Nagata, Tomoyuki T; Shinagawa, Shunichiro S; Kobayashi, Nobuyuki N; Ohnuma, Tohru T; Takeshita, Yoshihide Y; Kawai, Eri E; Takayama, Toshiki T; Nishioka, Kenya K; Motoi, Yumiko Y; Hattori, Nobutaka N; Nakayama, Kazuhiko K; Yamada, Hisashi H; Arai, Heii H

Publication Date: 2016

Variant appearance in text: PSEN2: A85V

PubMed Link: 27065294

Variant Present in the following documents:

• Main text
• dee-0006-0090.pdf

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Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Clinical Interventions In Aging

Cai, Yan Y; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2015

Variant appearance in text: PSEN2: A85V

PubMed Link: 26203236

Variant Present in the following documents:

• Main text
• cia-10-1163.pdf

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN2: Ala85Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN2: A85V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Padovani, Alessandro A; Gilberti, Nicola N; Borroni, Barbara B

Publication Date: 2011-02-21

Variant appearance in text: PSEN2: A85V

PubMed Link: 21559247

Variant Present in the following documents:

• Main text
• IJAD2011-296374.pdf

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Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Brain : A Journal Of Neurology

Jayadev, Suman S; Leverenz, James B JB; Steinbart, Ellen E; Stahl, Justin J; Klunk, William W; Yu, Cheng-En CE; Bird, Thomas D TD

Publication Date: 2010-04

Variant appearance in text: PSEN2: A85V

PubMed Link: 20375137

Variant Present in the following documents:

• Main text

View BVdb publication page

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