Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
40692796 (PubMed )
Supplement: Table1.xlsx › Foglio1
The Xenopus model as a tool for investigating craniofacial developmental disorders.
Kong Q et al.
Frontiers in Medicine, 2025
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G et al.
Genes, 2023
YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Wan RP et al.
Human Molecular Genetics, 2023
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.
Patterson VL et al.
Birth Defects Research, 2020
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.
Popov IK et al.
Frontiers in Physiology, 2019
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