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Publications by Heon Yung Gee

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

English

FAN1 Mutations Cause Karyomegalic Interstitial Nephritis, Linking Chronic Kidney Failure to Defective DNA Damage Repair

Nature Genetics

English

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics

English

Mutations in Six Nephrosis Genes Delineate a Pathogenic Pathway Amenable to Treatment

Nature Communications

Molecular Biology

English

Specific Autophagy and ESCRT Components Participate in the Unconventional Secretion of CFTR

Molecular Biology

English

Mutations in KIRREL1, a Slit Diaphragm Component, Cause Steroid-Resistant Nephrotic Syndrome

Kidney International

English

Rare KCNQ4 Variants Found in Public Databases Underlie Impaired Channel Activity That May Contribute to Hearing Impairment

Experimental and Molecular Medicine

Clinical Biochemistry

Molecular Biology

Molecular Medicine

English

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation

Molecular Biology

English