Jillian S. Parboosingh

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Matching Two Independent Cohorts Validates<i>DPH1</i>as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Intellectual disability associated with a homozygous missense mutation in THOC6

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis