Publications:

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: AKAP9: R434W

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: AKAP9: Arg434Trp

PubMed Link: 35000612

Variant Present in the following documents:

• Main text
• 13024_2021_Article_505.pdf

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Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: AKAP9: Arg434Trp

PubMed Link: 35000612

Variant Present in the following documents:

• Main text
• 13024_2021_Article_505.pdf

View BVdb publication page

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Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Hoogmartens, Julie J; Cacace, Rita R; Van Broeckhoven, Christine C

Publication Date: 2021

Variant appearance in text: AKAP9: R434W

PubMed Link: 33665345

Variant Present in the following documents:

• Main text
• DAD2-13-e12155.pdf

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Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.

Annals Of Clinical And Translational Neurology

Vardarajan, Badri N BN; Barral, Sandra S; Jaworski, James J; Beecham, Gary W GW; Blue, Elizabeth E; Tosto, Giuseppe G; Reyes-Dumeyer, Dolly D; Medrano, Martin M; Lantigua, Rafael R; Naj, Adam A; Thornton, Timothy T; DeStefano, Anita A; Martin, Eden E; Wang, Li-San LS; Brown, Lisa L; Bush, William W; van Duijn, Cornelia C; Goate, Allison A; Farrer, Lindsay L; Haines, Jonathan L JL; Boerwinkle, Eric E; Schellenberg, Gerard G; Wijsman, Ellen E; Pericak-Vance, Margaret A MA; Mayeux, Richard R; , ; Wang, Li-San LS

Publication Date: 2018-04

Variant appearance in text: AKAP9: R434W

PubMed Link: 29688227

Variant Present in the following documents:

• Main text
• ACN3-5-406.pdf

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Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans.

Journal Of Neuroimmune Pharmacology : The Official Journal Of The Society On Neuroimmune Pharmacology

Ikezu, Tsuneya T; Chen, Cidi C; DeLeo, Annina M AM; Zeldich, Ella E; Fallin, M Daniele MD; Kanaan, Nicholas M NM; Lunetta, Kathryn L KL; Abraham, Carmela R CR; Logue, Mark W MW; Farrer, Lindsay A LA

Publication Date: 2018-06

Variant appearance in text: AKAP9: R434W

PubMed Link: 29516269

Variant Present in the following documents:

• Main text
• 11481_2018_Article_9781.pdf

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