Publications:

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Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.

International Journal Of Molecular Sciences

Bae, Heewon H; Shim, Kyu Hwan KH; Yoo, Jang J; Yang, Young-Soon YS; An, Seong Soo A SSA; Kang, Min-Ju MJ

Publication Date: 2023-04-18

Variant appearance in text: PSEN2: Met174Val

PubMed Link: 37108607

Variant Present in the following documents:

• Main text
• ijms-24-07446.pdf

View BVdb publication page

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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: PSEN2: M174V; rs61757781

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience

Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S

Publication Date: 2022

Variant appearance in text: PSEN2: 520A>G; Met174Val

PubMed Link: 36133075

Variant Present in the following documents:

• Main text
• fnagi-14-969817.pdf

View BVdb publication page

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A comprehensive analysis of copy number variation in a Turkish dementia cohort.

Human Genomics

Dehghani, Nadia N; Guven, Gamze G; Kun-Rodrigues, Celia C; Gouveia, Catarina C; Foster, Kalina K; Hanagasi, Hasmet H; Lohmann, Ebba E; Samanci, Bedia B; Gurvit, Hakan H; Bilgic, Basar B; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2021-07-28

Variant appearance in text: PSEN2: 520A>G

PubMed Link: 34321086

Variant Present in the following documents:

• Main text
• 40246_2021_Article_346.pdf

View BVdb publication page

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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: M174V

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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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN2: M174V

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

View BVdb publication page

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A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Clinical Interventions In Aging

Giau, Vo Van VV; Pyun, Jung-Min JM; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: PSEN2: M174V

PubMed Link: 30104866

Variant Present in the following documents:

• Main text
• cia-13-1321.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: M174V

PubMed Link: 29661148

Variant Present in the following documents:

• 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1

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: Met174Val

PubMed Link: 29091718

Variant Present in the following documents:

• Main text
• pgen.1007045.pdf

View BVdb publication page

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Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Plos One

Forleo, Cinzia C; D'Erchia, Anna Maria AM; Sorrentino, Sandro S; Manzari, Caterina C; Chiara, Matteo M; Iacoviello, Massimo M; Guaricci, Andrea Igoren AI; De Santis, Delia D; Musci, Rita Leonarda RL; La Spada, Antonino A; Marangelli, Vito V; Pesole, Graziano G; Favale, Stefano S

Publication Date: 2017

Variant appearance in text: rs61757781

PubMed Link: 28750076

Variant Present in the following documents:

View BVdb publication page

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Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.

Jama Neurology

Kunkle, Brian W BW; Vardarajan, Badri N BN; Naj, Adam C AC; Whitehead, Patrice L PL; Rolati, Sophie S; Slifer, Susan S; Carney, Regina M RM; Cuccaro, Michael L ML; Vance, Jeffery M JM; Gilbert, John R JR; Wang, Li-San LS; Farrer, Lindsay A LA; Reitz, Christiane C; Haines, Jonathan L JL; Beecham, Gary W GW; Martin, Eden R ER; Schellenberg, Gerard D GD; Mayeux, Richard P RP; Pericak-Vance, Margaret A MA

Publication Date: 2017-09-01

Variant appearance in text: PSEN2: M174V; rs61757781

PubMed Link: 28738127

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: PSEN2: M174V; rs61757781

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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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: rs61757781

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: Met174Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

American Journal Of Neurodegenerative Disease

Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R

Publication Date: 2012

Variant appearance in text: PSEN2: 520A>G; Met174Val

PubMed Link: 23383383

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Neurobiology Of Aging

Lohmann, Ebba E; Guerreiro, Rita J RJ; Erginel-Unaltuna, Nihan N; Gurunlian, Nicole N; Bilgic, Basar B; Gurvit, Hakan H; Hanagasi, Hasmet A HA; Luu, Nga N; Emre, Murat M; Singleton, Andrew A

Publication Date: 2012-08

Variant appearance in text: PSEN2: 520A>G; M174V

PubMed Link: 22503161

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: PSEN2: M174V

PubMed Link: 22312439

Variant Present in the following documents:

• Main text
• pone.0031039.pdf

View BVdb publication page

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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: M174V

PubMed Link: 20375137

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging

Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J

Publication Date: 2010-05

Variant appearance in text: PSEN2: 520A>G; M174V

PubMed Link: 18667258

Variant Present in the following documents:

• Main text

View BVdb publication page

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