Collaborator: Broad Institute of MIT and Harvard

• A framework for individualized splice-switching oligonucleotide therapy

• Recommendations for clinical interpretation of variants found in non-coding regions of the genome

• Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

• Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

• A novel ‘social contract’ – An attempt to harmonize a sponsor’s exploratory research with a clinical study participant’s data rights

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

• Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

• De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

• The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

• 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,…