Publications:

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: PSEN1: E69D

PubMed Link: 32087291

Variant Present in the following documents:

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

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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Nicolas, Gaël G; Acuña-Hidalgo, Rocío R; Keogh, Michael J MJ; Quenez, Olivier O; Steehouwer, Marloes M; Lelieveld, Stefan S; Rousseau, Stéphane S; Richard, Anne-Claire AC; Oud, Manon S MS; Marguet, Florent F; Laquerrière, Annie A; Morris, Chris M CM; Attems, Johannes J; Smith, Colin C; Ansorge, Olaf O; Al Sarraj, Safa S; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Wallon, David D; Gilissen, Christian C; Chinnery, Patrick F PF; Veltman, Joris A JA; Hoischen, Alexander A

Publication Date: 2018-12

Variant appearance in text: PSEN1: 207A>T; Glu69Asp

PubMed Link: 30114415

Variant Present in the following documents:

• EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx, sheet 6

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Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

European Journal Of Human Genetics : Ejhg

Nicolas, Gaël G; Wallon, David D; Charbonnier, Camille C; Quenez, Olivier O; Rousseau, Stéphane S; Richard, Anne-Claire AC; Rovelet-Lecrux, Anne A; Coutant, Sophie S; Le Guennec, Kilan K; Bacq, Delphine D; Garnier, Jean-Guillaume JG; Olaso, Robert R; Boland, Anne A; Meyer, Vincent V; Deleuze, Jean-François JF; Munter, Hans Markus HM; Bourque, Guillaume G; Auld, Daniel D; Montpetit, Alexandre A; Lathrop, Mark M; Guyant-Maréchal, Lucie L; Martinaud, Olivier O; Pariente, Jérémie J; Rollin-Sillaire, Adeline A; Pasquier, Florence F; Le Ber, Isabelle I; Sarazin, Marie M; Croisile, Bernard B; Boutoleau-Bretonnière, Claire C; Thomas-Antérion, Catherine C; Paquet, Claire C; Sauvée, Mathilde M; Moreaud, Olivier O; Gabelle, Audrey A; Sellal, François F; Ceccaldi, Mathieu M; Chamard, Ludivine L; Blanc, Frédéric F; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D

Publication Date: 2016-05

Variant appearance in text: PSEN1: 207A>T; Glu69Asp

PubMed Link: 26242991

Variant Present in the following documents:

• Main text

View BVdb publication page