Associated Papers
Genetic Associations with Pectus Excavatum: A Systematic Review.
Ranjan R et al.
Current Issues in Molecular Biology, 2026
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles.
Girisha KM et al.
European Journal of Medical Genetics, 2022
Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.
Cruz-Centeno N et al.
The American Journal of Case Reports, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.
Frigola G et al.
Virchows Archiv : an International Journal of Pathology, 2021
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.
Kim JS et al.
Human Genome Variation, 2021
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.
Satoh C et al.
European Journal of Medical Genetics, 2021
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C et al.
European Journal of Human Genetics : Ejhg, 2020
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2020
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Pölsler L et al.
American Journal of Medical Genetics. Part A, 2020
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.
Belbin GM et al.
Elife, 2017
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.
Kotabagi S et al.
Clinical Genetics, 2017
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Gariballa N et al.
American Journal of Medical Genetics. Part A, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Gonzaga-Jauregui C et al.
European Journal of Human Genetics : Ejhg, 2015
Regions of homozygosity and a novel variant in Steel syndrome: An added dilemma to diagnosis.
Thakur S et al.
Journal of Postgraduate Medicine, 0