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Grace Yoon

8PUBLICATIONS

47CO-AUTHORS

Gene and molecular therapyPredictive and prognostic markersAutoimmunityInfant and child healthNeurology and neuromuscular diseases

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Publications (8)

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|Jun 20, 2025

Biallelic <i>SIDT2</i> loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of <i>SIDT2</i> 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 <i>C2orf69</i> causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Rachel Youjin Oh, Michael Maier, Susan Blaser

|Jan 15, 2025

Child Neurology: Severe <i>GMPPB</i>-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 m<sup>6</sup>A 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

Simranpreet Kaur

1 joint publications

Volker Straub

1 joint publications

Debjit Khan

1 joint publications

Fabio Cumbo

1 joint publications

Dalia Halawani

1 joint publications

Ranjan Dutta

1 joint publications

Paul L Fox

Frequent Collaborators

2 joint publications

Katarina Pelin

2 joint publications

Alan H Beggs

2 joint publications

Casie A Genetti

1 joint publications

Simranpreet Kaur

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