Associated Papers
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
Abdel-Salam GMH et al.
Molecular Syndromology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
Familial Gordon syndrome associated with a PIEZO2 mutation.
Alisch F et al.
American Journal of Medical Genetics. Part A, 2017
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
Okubo M et al.
American Journal of Medical Genetics. Part A, 2015
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ et al.
American Journal of Human Genetics, 2014
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