Grace Yoon

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C&gt;T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Assessing non-Mendelian inheritance in inherited axonopathies

<i>De Novo</i> variants in <i>EEF2</i> cause a neurodevelopmental disorder with benign external hydrocephalus

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort

<i>VPS41</i> recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

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

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

Progression of Friedreich ataxia: quantitative characterization over 5 years

High Frequency of Pathogenic Rearrangements in <i>SPG11</i> and Extensive Contribution of Mutational Hotspots and Founder Alleles

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Frataxin levels in peripheral tissue in Friedreich ataxia

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome