Yongjun Song

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 16 publications

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.

Journal: Molecular and cellular pediatrics

Published: November 25, 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

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

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Journal: Clinical and translational medicine

Published: December 17, 2024

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.

Journal: American journal of medical genetics. Part A

Published: November 26, 2024

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Journal: Human mutation

Published: August 26, 2024

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

Journal: NPJ genomic medicine

Published: June 12, 2024

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 08, 2024

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.

Journal: Molecular genetics & genomic medicine

Published: August 28, 2023

Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.

Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.

Journal: Laboratory medicine

Published: July 19, 2023

A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.

A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.

Journal: Annals of human genetics

Published: May 22, 2023

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.

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: April 18, 2023

Showing 1-12 of 16

Last Updated: 09/26/2026