Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 691G>A; Ala231Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: A231T

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: PSEN1: 691G>A; Ala231Thr

PubMed Link: 28350801

Variant Present in the following documents:

• Main text
• pmed.1002270.pdf

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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: 691G>A; Ala231Thr

PubMed Link: 26242991

Variant Present in the following documents:

• Main text

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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Neurobiology Of Aging

Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Al-Sarraj, Safa S; Niblock, Michael M; Gallo, Jean-Marc JM; Adnan, Jihad J; Killick, Richard R; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J

Publication Date: 2014-12

Variant appearance in text: PSEN1: A231T

PubMed Link: 25104557

Variant Present in the following documents:

• Main text

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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: PSEN1: Ala231Thr

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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