Associated Papers
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
Microcytosis in Erythropoietic Protoporphyria.
Graziadei G et al.
Frontiers in Physiology, 2022
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.
Vanzo RJ et al.
Journal of Personalized Medicine, 2020
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P et al.
European Journal of Dermatology : Ejd, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y et al.
Nature Communications, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Genetic study in a Singaporean patient with erythropoietic protoporphyria.
Chuah SY et al.
Photodermatology, Photoimmunology & Photomedicine, 2012
[Inheritance in erythropoietic protoporphyria].
Schmitt C et al.
Pathologie-biologie, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms].
Dam C et al.
Ugeskrift for Laeger, 2008
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Gouya L et al.
American Journal of Human Genetics, 2006
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Rüfenacht UB et al.
American Journal of Human Genetics, 1998
Deletion of the ferrochelatase gene in a patient with protoporphyria.
Magness ST et al.
Human Molecular Genetics, 1994
Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases.
Dailey HA et al.
The Journal of Biological Chemistry, 1994
Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
Nakahashi Y et al.
Human Molecular Genetics, 1993
A molecular defect in human protoporphyria.
Brenner DA et al.
American Journal of Human Genetics, 1992
Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.
Liu Z et al.
Gut Microbes, 0