Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes. Local targets link to admitted publications; unresolved targets remain external evidence.
Neonatal Diabetes Mellitus
10.3389/fped.2020.540718 · 2020 · External reference
Monogenic diabetes
10.1016/j.mpmed.2018.10.007 · 2019 · External reference
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY)—A review
10.1016/j.jdiacomp.2020.107640 · 2021 · External reference
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin
10.1007/s00125-018-4728-6 · 2018 · External reference
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
10.1007/s00125-010-1799-4 · 2010 · External reference
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
10.2337/db21-0844 · 2022 · External reference
A systematic approach to assessing the clinical significance of genetic variants
10.1111/cge.12257 · 2013 · External reference
ClinVar: improving access to variant interpretations and supporting evidence
10.1093/nar/gkx1153 · 2018 · External reference
Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas
10.2337/dc18-0384 · 2018 · External reference
Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations
10.3390/ijms17091555 · 2016 · External reference
AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models
10.1093/nar/gkab1061 · 2022 · External reference
Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants
10.1016/j.jbc.2022.101803 · 2022 · External reference
How many human proteoforms are there?
10.1038/nchembio.2576 · 2018 · External reference
Ensembl 2022
10.1093/nar/gkab1049 · 2022 · External reference
Causal variants in Maturity Onset Diabetes of the Young (MODY)—A systematic review
10.1186/s12902-021-00891-7 · 2021 · External reference
The Ensembl REST API: Ensembl Data for Any Language
2015 · External reference
The Ensembl Variant Effect Predictor
10.1186/s13059-016-0974-4 · 2016 · External reference
Vcfanno: fast, flexible annotation of genetic variants
10.1186/s13059-016-0973-5 · 2016 · External reference
Pyteomics 4.0: Five Years of Development of a Python Proteomics Framework
10.1021/acs.jproteome.8b00717 · 2019 · External reference
Matplotlib: A 2D Graphics Environment
10.1109/mcse.2007.55 · 2007 · External reference
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
10.1093/nar/gki033 · 2005 · External reference
Genetic associations of protein-coding variants in human disease
10.1038/s41586-022-04394-w · 2022 · External reference
Generation of ENSEMBL-based proteogenomics databases boosts the identification of non-canonical peptides
10.1093/bioinformatics/btab838 · 2022 · External reference
Identification of Common Genetic Variation That Modulates Alternative Splicing
10.1371/journal.pgen.0030099 · 2007 · External reference
Genetic Variants in mRNA Untranslated Regions
10.1002/wrna.1474 · 2018 · External reference
ABCC8 genetic variants and risk of diabetes mellitus
10.1016/j.gene.2014.04.040 · 2014 · External reference
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation
10.1016/j.bbadis.2012.07.005 · 2012 · External reference
Accurate proteome-wide missense variant effect prediction with AlphaMissense
10.1126/science.adg7492 · 2023 · External reference
IsoAligner: dynamic mapping of amino acid positions across protein isoforms [version 1; peer review: 2 approved with reservations]
2022 · External reference
Haplosaurus computes protein haplotypes for use in precision drug design
10.1038/s41467-018-06542-1 · 2018 · External reference
Finding haplotypic signatures in proteins
10.1093/gigascience/giad093 · 2023 · External reference
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
10.2337/diabetes.54.11.3126 · 2005 · External reference
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
10.1086/522591 · 2007 · External reference
Monogenic diabetes
10.1038/s41572-023-00421-w · 2023 · External reference
Splicing in the Diagnosis of Rare Disease: Advances and Challenges
10.3389/fgene.2021.689892 · 2021 · External reference
