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List of works by Joao Fadista

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-Cells

scientific article (publication date: 2016)

A central role for GRB10 in regulation of islet function in man.

scientific article published on 3 April 2014

A snapshot of CNVs in the pig genome

scientific article

A systems genetics approach identifies genes and pathways for type 2 diabetes in human islets

scientific article

Altered DNA methylation and differential expression of genes influencing metabolism and inflammation in adipose tissue from subjects with type 2 diabetes

scientific article published on 8 May 2014

Analyses of pig genomes provide insight into porcine demography and evolution

scientific article

Controllability in an islet specific regulatory network identifies the transcriptional factor NFATC4, which regulates Type 2 Diabetes associated genes.

scientific article

Copy number variation in the bovine genome

scientific article

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity

scientific article

Expression profiling of cell cycle genes in human pancreatic islets with and without type 2 diabetes

scientific article published on 22 May 2013

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

scientific article published on 25 November 2020

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

scientific article

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis

scientific article published on 01 January 2019

Genomic position mapping discrepancies of commercial SNP chips

scientific article

Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping

scientific article

Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism

scientific article

Glucose-induced Changes in Gene Expression in Human Pancreatic Islets - Causes or Consequences of Chronic Hyperglycemia

scientific article published on 7 September 2017

Increased Melatonin Signaling Is a Risk Factor for Type 2 Diabetes

scientific article

Integrating genetics with newborn metabolomics in infantile hypertrophic pyloric stenosis

scientific article published on 08 January 2021

Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms

scientific article published on January 2014

LoFtool: a gene intolerance score based on loss-of-function variants in 60 706 individuals

scientific article

Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes

scientific article published on 10 June 2014

MafA-Controlled Nicotinic Receptor Expression Is Essential for Insulin Secretion and Is Impaired in Patients with Type 2 Diabetes

scientific article

RNA sequencing: current and prospective uses in metabolic research

scientific article

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Serotonin (5-HT) receptor 2b activation augments glucose-stimulated insulin secretion in human and mouse islets of Langerhans

scientific article published on 6 January 2016

TCF7L2 is a master regulator of insulin production and processing

scientific article

The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway

scientific article published on 14 May 2013

The diabetes susceptibility gene Clec16a regulates mitophagy

scientific journal article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

article

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

scientific article published on 02 September 2019

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