Publications:

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Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Scientific Reports

Wightman, Douglas P DP; Savage, Jeanne E JE; de Leeuw, Christiaan A CA; Jansen, Iris E IE; Posthuma, Danielle D

Publication Date: 2023-02-07

Variant appearance in text: APP: R328W

PubMed Link: 36750708

Variant Present in the following documents:

• 41598_2023_29108_MOESM1_ESM.xlsx, sheet 11

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: APP: 982C>T; rs200978018

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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AmazonForest: In Silico Metaprediction of Pathogenic Variants.

Biology

Palheta, Helber Gonzales Almeida HGA; Gonçalves, Wanderson Gonçalves WG; Brito, Leonardo Miranda LM; Dos Santos, Arthur Ribeiro AR; Dos Reis Matsumoto, Marlon M; Ribeiro-Dos-Santos, Ândrea Â; de Araújo, Gilderlanio Santana GS

Publication Date: 2022-03-31

Variant appearance in text: APP: 982C>T; Arg328Trp

PubMed Link: 35453737

Variant Present in the following documents:

• Main text
• biology-11-00538.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: APP: R328W; rs200978018

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy

Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,

Publication Date: 2020-09-11

Variant appearance in text: APP: R328W

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.pdf

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: R328W

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

View BVdb publication page

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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: APP: R328W

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 7
• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 7

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Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Neuromuscular Disorders : Nmd

Weihl, Conrad C CC; Baloh, Robert H RH; Lee, Youjin Y; Chou, Tsui-Fen TF; Pittman, Sara K SK; Lopate, Glenn G; Allred, Peggy P; Jockel-Balsarotti, Jennifer J; Pestronk, Alan A; Harms, Matthew B MB

Publication Date: 2015-04

Variant appearance in text: APP: R328W

PubMed Link: 25617006

Variant Present in the following documents:

• Main text

View BVdb publication page

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