Publications:

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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: APP: V340M

PubMed Link: 32087291

Variant Present in the following documents:

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

View BVdb publication page

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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: APP: V340M

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.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: APP: 1018G>A

PubMed Link: 30104866

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alzheimer's Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health.

Journal Of Alzheimer'S Disease : Jad

Vega, Irving E IE; Cabrera, Laura Y LY; Wygant, Cassandra M CM; Velez-Ortiz, Daniel D; Counts, Scott E SE

Publication Date: 2017

Variant appearance in text: APP: V340M

PubMed Link: 28527211

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease-related mutations among Caribbean Hispanics with familial dementia.

Molecular Genetics & Genomic Medicine

Lee, Joseph H JH; Kahn, Amanda A; Cheng, Rong R; Reitz, Christiane C; Vardarajan, Badri B; Lantigua, Rafael R; Medrano, Martin M; Jiménez-Velázquez, Ivonne Z IZ; Williamson, Jennifer J; Nagy, Peter P; Mayeux, Richard R

Publication Date: 2014-09

Variant appearance in text: APP: 1018G>A; Val340Met

PubMed Link: 25333068

Variant Present in the following documents:

• Main text
• mgg30002-0430.pdf

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: APP: V340M

PubMed Link: 22312439

Variant Present in the following documents:

• Main text
• pone.0031039.pdf

View BVdb publication page

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