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: HP: 1A>G; Met1Val

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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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: HP: 1A>G

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Balkan Journal Of Medical Genetics : Bjmg

Staninova-Stojovska, M M; Matevska-Geskovska, N N; Panovski, M M; Angelovska, B B; Mitrevski, N N; Ristevski, M M; Jovanovic, R R; Dimovski, A J AJ

Publication Date: 2019-12

Variant appearance in text: HP: 1A>G; Met1Val

PubMed Link: 31942411

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: HP: 1A>G; Met1Val

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp005.pdf

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A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Oncotarget

Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K

Publication Date: 2017-10-13

Variant appearance in text: HP: 1A>G; M1V

PubMed Link: 29137425

Variant Present in the following documents:

• Main text
• oncotarget-08-84309.pdf

View BVdb publication page

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GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Human Mutation

Lemos, Manuel C MC; Thakker, Rajesh V RV

Publication Date: 2015-01

Variant appearance in text: HP: 1A>G

PubMed Link: 25219572

Variant Present in the following documents:

• humu0036-0011-sd1.pdf

View BVdb publication page

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