Go H. Seo

Seoul, Republic of Korea

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 110 publications

Identification of a Pathogenic RECQL4 1.6-kb Deletion-Insertion in a Neonate with Atypical Skeletal Phenotype of Baller-Gerold Syndrome Using Rapid Whole-Genome Sequencing.

Identification of a Pathogenic RECQL4 1.6-kb Deletion-Insertion in a Neonate with Atypical Skeletal Phenotype of Baller-Gerold Syndrome Using Rapid Whole-Genome Sequencing.

Journal: Annals of laboratory medicine

Published: February 22, 2026

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Journal: Journal of child neurology

Published: December 23, 2025

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.

Journal: Clinical and experimental pediatrics

Published: November 21, 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

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Journal: European journal of human genetics : EJHG

Published: October 28, 2025

A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis.

A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis.

Journal: Molecular genetics and genomics : MGG

Published: October 09, 2025

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.

Journal: BMC neurology

Published: August 02, 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

Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.

Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.

Journal: Scientific reports

Published: July 15, 2025

The importance and clinical utility of reanalysis of exome and genome sequencing data.

The importance and clinical utility of reanalysis of exome and genome sequencing data.

Journal: Kidney research and clinical practice

Published: July 01, 2025

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.

Journal: Scientific reports

Published: June 26, 2025

Showing 1-12 of 110

Last Updated: 09/26/2026