Collaborator: SUNY Upstate Medical University, Syracuse, NY

• CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient

• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

• Diagnostic exome sequencing suggests digenic inheritance in a cobalamin metabolism disorder

  April 2, 2026

• Novel mutation in CLTC associated with anomalous development

  April 2, 2026

• CASK mutation identified by whole exome sequencing in a patient that expands the clinical spectrum for MICPCH syndrome

  April 2, 2026

• A patient with Beaulieu-Boycott-Innes syndrome, illustrating the utility of whole exome sequencing

  April 2, 2026

• Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

• Novel mutation in CLTC associated with anomalous development

  April 2, 2026

• MAGEL2-Related Disorders: A study and case series

  Abstract Pathogenic MAGEL2 variants result in the phenotypes of Chitayat‐Hall syndrome (CHS), Schaaf‐Yang syndrome (SYS) and Prader‐Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a systematic review of the CHS and SYS literature, assess the overlap between CHS,…

• A novel autosomal recessive alteration in the RYR1 gene in a patient with profound hypotonia

  Homozygous and compound heterozygous mutations in the RYR1 gene have been reported to cause hypotonia, facial weakness, nemaline myopathy, respiratory insufficiency, swallowing disturbances, and ophthalmoplegia

  April 2, 2026