Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Two novel mutations within FREM1 gene in patients with bifid nose.
Chen X et al.
Bmc Pediatrics, 2023
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.
Brischoux-Boucher E et al.
Clinical Genetics, 2020
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q et al.
Human Molecular Genetics, 2018
Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case.
Yang YD et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2017
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
Chacon-Camacho OF et al.
European Journal of Medical Genetics, 2017
Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.
Lee SH et al.
Oncotarget, 2017
28179590 (PubMed )
Supplement: oncotarget-08-6579-s002.xlsx › Table_S2
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF et al.
Human Molecular Genetics, 2013
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers LE et al.
Plos Genetics, 2011
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
Alazami AM et al.
American Journal of Human Genetics, 2009
Select a paper to view details