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: 424G>A; Val142Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: PSEN1: 424G>A; Val142Ile

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

View BVdb publication page

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: V142I

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes

Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL

Publication Date: 2022-03-18

Variant appearance in text: PS1: 424G>A

PubMed Link: 35328090

Variant Present in the following documents:

• genes-13-00537.pdf

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The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine

Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L

Publication Date: 2021-08-13

Variant appearance in text: PSEN1: 424G>A; V142I

PubMed Link: 34389718

Variant Present in the following documents:

• Main text
• 41525_2021_Article_235.pdf

View BVdb publication page

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Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia.

Journal Of Neurology

Nolte, Dagmar D; Kang, Jun-Suk JS; Hofmann, Amrei A; Schwaab, Eva E; Krämer, Heidrun H HH; Müller, Ulrich U

Publication Date: 2021-12

Variant appearance in text: PS1: V142I

PubMed Link: 34037856

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: PSEN1: 424G>A; Val142Ile

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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