Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

(2017) Susanne Nettesheim et al.   Orphanet Journal of Rare Diseases

Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

(2015) Ljubica Caldovic et al.   Journal of Genetics and Genomics

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The incidence of urea cycle disorders

(2013) Marshall L. Summar et al.   MOLECULAR GENETICS AND METABOLISM

Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors

(2012) J. Wang et al.   GENOME RESEARCH

Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ

(2012) Nicholas Ah Mew et al.   JOURNAL OF PEDIATRICS

Architecture of the human regulatory network derived from ENCODE data

(2012) Mark B. Gerstein et al.   NATURE

Factorbook.org: a Wiki-based database for transcription factor-binding data generated by the ENCODE consortium

(2012) J. Wang et al.   NUCLEIC ACIDS RESEARCH

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

(2011) Sandra K. Heibel et al.   HUMAN MUTATION

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

(2010) D. L. Goode et al.   GENOME RESEARCH

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency

(2010) Ondrej Luksan et al.   HUMAN MUTATION

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

(2009) Sanae Numata et al.   JOURNAL OF HUMAN GENETICS

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

(2009) S. Balasubramaniam et al.   MOLECULAR GENETICS AND METABOLISM

N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

(2009) Mendel Tuchman et al.   PEDIATRIC RESEARCH

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

(2008) Katharina Engel et al.   MOLECULAR GENETICS AND METABOLISM