Grace Yoon

9PUBLICATIONS
48CO-AUTHORS
Gene and molecular therapyPredictive and prognostic markersAutoimmunityInfant and child healthNeurology and neuromuscular diseases
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Publications (9)

|Jun 20, 2025
Biallelic SIDT2 loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of SIDT2 in mice.

Tan Nguyen, Grace Yoon, Blake R C Smith

|Jun 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Justyne E Ross, May Flowers, Shannon McNulty

|Jan 23, 2025
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Rachel Youjin Oh, Michael Maier, Susan Blaser

|Jan 15, 2025
Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Joseph Dubé, Susan Blaser, Anne-Marie Guerguerian

|Jan 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

|May 20, 2024
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility.

Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu

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Frequent Collaborators

2 joint publications

Katarina Pelin

2 joint publications

Alan H Beggs

2 joint publications

Casie A Genetti

1 joint publications

Daniela Salvo