Peter B. Kang

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

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

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy

POLRMT mutations impair mitochondrial transcription causing neurological disease

<scp>hnRNP L</scp> is essential for myogenic differentiation and modulates myotonic dystrophy pathologies

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Expanding the Phenotypic Spectrum and Variability of Endocrine Abnormalities Associated With TUBB3 E410K Syndrome

Observational study of spinal muscular atrophy type I and implications for clinical trials

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Prospective cohort study of spinal muscular atrophy types 2 and 3

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy