Associated Papers
Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report.
Park HE et al.
Diagnostics (basel, Switzerland), 2022
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Braun F et al.
Molecular Genetics & Genomic Medicine, 2021
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
Greenbaum L et al.
European Journal of Medical Genetics, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Greenbaum L et al.
Frontiers in Genetics, 2019
Select a paper to view details