Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

CoVaCS: a consensus variant calling system

(2018) Matteo Chiara et al.   BMC GENOMICS

Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)

(2018) Valentina Brancaleoni et al.   MOLECULAR GENETICS AND METABOLISM

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

(2018) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

(2017) Manisha Balwani et al.   JAMA Dermatology

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1

(2016) Valeria Fiorentino et al.   BLOOD CELLS MOLECULES AND DISEASES

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene

(2016) Hiromi Suzuki et al.   JOURNAL OF DERMATOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene

(2015) M. Mizawa et al.   BRITISH JOURNAL OF DERMATOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators

(2015) Qinghong Yan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

The alternative role of DNA methylation in splicing regulation

(2015) Galit Lev Maor et al.   TRENDS IN GENETICS

HP1 Is Involved in Regulating the Global Impact of DNA Methylation on Alternative Splicing

(2015) Ahuvi Yearim et al.   Cell Reports

Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF65

(2013) Jasmin Barman-Aksözen et al.   BLOOD CELLS MOLECULES AND DISEASES

Unknown

(2013) Manisha Balwani et al.   MOLECULAR MEDICINE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

NCBI’s Database of Genotypes and Phenotypes: dbGaP

(2013) Kimberly A. Tryka et al.   NUCLEIC ACIDS RESEARCH

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

(2012) F.P. Colombo et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Kaviar: an accessible system for testing SNV novelty

(2011) Gustavo Glusman et al.   BIOINFORMATICS

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

(2010) S.D. Whatley et al.   BRITISH JOURNAL OF DERMATOLOGY

The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria

(2010) Tsuyoshi Tahara et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Erythropoietic protoporphyria

(2009) Mario Lecha et al.   Orphanet Journal of Rare Diseases

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

(2008) X. Schneider-Yin et al.   JOURNAL OF INHERITED METABOLIC DISEASE