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: 649G>C; Gly217Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

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

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN1: G217R

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Gly217Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T

Publication Date: 2022-05

Variant appearance in text: PSEN1: G217R

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

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The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Haematologica

Homan, Claire C CC; King-Smith, Sarah L SL; Lawrence, David M DM; Arts, Peer P; Feng, Jinghua J; Andrews, James J; Armstrong, Mark M; Ha, Thuong T; Dobbins, Julia J; Drazer, Michael W MW; Yu, Kai K; Bödör, Csaba C; Cantor, Alan A; Cazzola, Mario M; Degelman, Erin E; DiNardo, Courtney D CD; Duployez, Nicolas N; Favier, Remi R; Fröhling, Stefan S; Fitzgibbon, Jude J; Klco, Jeffery M JM; Krämer, Alwin A; Kurokawa, Mineo M; Lee, Joanne J; Malcovati, Luca L; Morgan, Neil V NV; Natsoulis, Georges G; Owen, Carolyn C; Patel, Keyur P KP; Preudhomme, Claude C; Raslova, Hana H; Rienhoff, Hugh H; Ripperger, Tim T; Schulte, Rachael R; Tawana, Kiran K; Velloso, Elvira E; Yan, Benedict B; Liu, Paul P; Godley, Lucy A LA; Schreiber, Andreas W AW; Hahn, Christopher N CN; Scott, Hamish S HS; Brown, Anna L AL

Publication Date: 2021-11-01

Variant appearance in text: PS1: Gly217Arg

PubMed Link: 34233450

Variant Present in the following documents:

• 2021_278762_HOMAN_TABLE1_SUPPL.xlsx, sheet 1

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Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Brain And Behavior

Yang, Li L; You, Cuiping C; Qiu, Shiyan S; Yang, Xiaofan X; Li, Yufen Y; Liu, Feng F; Zhang, Dongqing D; Niu, Yue Y; Xu, Liyun L; Xu, Na N; Li, Xia X; Luo, Fang F; Yang, Junli J; Li, Baomin B

Publication Date: 2020-05

Variant appearance in text: PS1: 649G>C

PubMed Link: 32237035

Variant Present in the following documents:

• BRB3-10-e01597.pdf

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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: G217R

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Acta Neuropathologica Communications

Miki, Tomoko T; Yokota, Osamu O; Haraguchi, Takashi T; Ikeuchi, Takeshi T; Zhu, Bin B; Takenoshita, Shintaro S; Terada, Seishi S; Yamada, Norihito N

Publication Date: 2019-02-12

Variant appearance in text: PSEN1: G217R

PubMed Link: 30755281

Variant Present in the following documents:

• Main text
• 40478_2019_Article_672.pdf

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Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Translational Psychiatry

Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM

Publication Date: 2018-12-13

Variant appearance in text: PSEN1: G217R

PubMed Link: 30546007

Variant Present in the following documents:

• Main text
• 41398_2018_Article_319.pdf

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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy

Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM

Publication Date: 2018-07-25

Variant appearance in text: PSEN1: G217R

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Gly217Arg

PubMed Link: 25217249

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: Gly217Arg

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Increased in vivo amyloid-β42 production, exchange, and loss in presenilin mutation carriers.

Science Translational Medicine

Potter, Rachel R; Patterson, Bruce W BW; Elbert, Donald L DL; Ovod, Vitaliy V; Kasten, Tom T; Sigurdson, Wendy W; Mawuenyega, Kwasi K; Blazey, Tyler T; Goate, Alison A; Chott, Robert R; Yarasheski, Kevin E KE; Holtzman, David M DM; Morris, John C JC; Benzinger, Tammie L S TL; Bateman, Randall J RJ

Publication Date: 2013-06-12

Variant appearance in text: PSEN1: Gly217Arg

PubMed Link: 23761040

Variant Present in the following documents:

• Main text

View BVdb publication page

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