Associated Papers
Splicing variants in MYRF cause partial loss-of-function in the retinal pigment epithelium leading to nanophthalmos.
Rozumek GM et al.
Jci Insight, 2026
MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.
Zhang W et al.
American Journal of Medical Genetics. Part A, 2025
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium.
Rozumek GM et al.
Biorxiv : the Preprint Server for Biology, 2025
CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease.
Doering L et al.
Disease Models & Mechanisms, 2023
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.
Lee M et al.
Npj Genomic Medicine, 2022
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.
Gupta N et al.
American Journal of Medical Genetics. Part A, 2022
Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.
Wang H et al.
Frontiers in Pediatrics, 2022
Crystal structure of the MyRF ICA domain with its upstream β-helical stalk reveals the molecular mechanisms underlying its trimerization and self-cleavage.
Wu P et al.
International Journal of Biological Sciences, 2021
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3
Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.
An H et al.
Scientific Reports, 2020
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ et al.
American Journal of Medical Genetics. Part A, 2019
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H et al.
Plos Genetics, 2018
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
Fan C et al.
The Journal of Biological Chemistry, 0
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