Hane S. Lee

Medical Genetics

10833 Le Conte Ave
Los Angeles, CA 90095

Last Updated: 09/26/2026

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Found 151 publications

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Journal: Human mutation

Published: May 04, 2026

Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.

Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.

Journal: Children (Basel, Switzerland)

Published: April 30, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.

Journal: International journal of molecular sciences

Published: November 18, 2025

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Journal: Clinical genetics

Published: October 31, 2025

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Journal: NPJ genomic medicine

Published: July 17, 2025

A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.

A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.

Journal: Journal of medical case reports

Published: July 02, 2025

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Journal: International journal of molecular sciences

Published: May 22, 2025

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.

Journal: Molecular genetics and metabolism reports

Published: March 14, 2025

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.

Journal: Molecular medicine (Cambridge, Mass.)

Published: March 13, 2025

Correction: whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.

Correction: whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.

Journal: BMC medical genomics

Published: February 27, 2025

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

Showing 1-12 of 151

Last Updated: 09/26/2026