Search details
1.
EAP1 regulation of GnRH promoter activity is important for human pubertal timing.
Hum Mol Genet
; 28(8): 1357-1368, 2019 04 15.
Article
in English
| MEDLINE | ID: mdl-30608578
2.
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants.
Hum Genet
; 140(5): 805-812, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33502607
3.
Identification of disease-associated loci using machine learning for genotype and network data integration.
Bioinformatics
; 35(24): 5182-5190, 2019 12 15.
Article
in English
| MEDLINE | ID: mdl-31070705
4.
Ligand-Specific Factors Influencing GLP-1 Receptor Post-Endocytic Trafficking and Degradation in Pancreatic Beta Cells.
Int J Mol Sci
; 21(21)2020 Nov 09.
Article
in English
| MEDLINE | ID: mdl-33182425
5.
PhenoRank: reducing study bias in gene prioritization through simulation.
Bioinformatics
; 34(12): 2087-2095, 2018 06 15.
Article
in English
| MEDLINE | ID: mdl-29360927
6.
Properties of human genes guided by their enrichment in rare and common variants.
Hum Mutat
; 39(3): 365-370, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29197136
7.
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.
Hum Mutat
; 38(3): 289-296, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27957775
8.
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
Hum Mutat
; 37(10): 1074-84, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27459240
9.
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Nat Genet
; 37(2): 166-70, 2005 Feb.
Article
in English
| MEDLINE | ID: mdl-15654338
10.
Missense3D-TM: Predicting the Effect of Missense Variants in Helical Transmembrane Protein Regions Using 3D Protein Structures.
J Mol Biol
; 436(2): 168374, 2024 01 15.
Article
in English
| MEDLINE | ID: mdl-38182301
11.
Protein structure-based evaluation of missense variants: Resources, challenges and future directions.
Curr Opin Struct Biol
; 80: 102600, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37126977
12.
The effect of adjusting LDL-cholesterol for Lp(a)-cholesterol on the diagnosis of familial hypercholesterolaemia.
J Clin Lipidol
; 17(2): 244-254, 2023.
Article
in English
| MEDLINE | ID: mdl-36870882
13.
Missense3D-PPI: A Web Resource to Predict the Impact of Missense Variants at Protein Interfaces Using 3D Structural Data.
J Mol Biol
; 435(14): 168060, 2023 07 15.
Article
in English
| MEDLINE | ID: mdl-37356905
14.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Lancet Diabetes Endocrinol
; 11(8): 545-554, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37385287
15.
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
Nat Genet
; 55(6): 1009-1021, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37291193
16.
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.
Nat Genet
; 55(9): 1448-1461, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37679419
17.
Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs.
Hum Mutat
; 33(2): 359-63, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22072597
18.
The AlphaFold Database of Protein Structures: A Biologist's Guide.
J Mol Biol
; 434(2): 167336, 2022 01 30.
Article
in English
| MEDLINE | ID: mdl-34757056
19.
GWYRE: A Resource for Mapping Variants onto Experimental and Modeled Structures of Human Protein Complexes.
J Mol Biol
; 434(11): 167608, 2022 06 15.
Article
in English
| MEDLINE | ID: mdl-35662458
20.
Lipid lowering with inclisiran: a real-world single-centre experience.
Open Heart
; 9(2)2022 12.
Article
in English
| MEDLINE | ID: mdl-36600646