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Publications by Hong-Joon Park

Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing

BMC Medical Genetics

Genetics

2014

English

Clinical and Molecular Characterizations of Novel POU3F4 Mutations Reveal That DFN3 Is Due to Null Function of POU3F4 Protein

Physiological Genomics

Genetics

Physiology

2009

English

Related publications

Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing

Hormone Research in Paediatrics

English

Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing

English

Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology : JASN

Medicine

Nephrology

2018

English

TCOF1 Pathogenic Variants Identified by Whole-Exome Sequencing in Chinese Treacher Collins Syndrome Families and Hearing Rehabilitation Effect

Orphanet Journal of Rare Diseases

English

Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

PLoS ONE

Multidisciplinary

2013

English

Novel Mutations in SPTA1 and SPTB Identified by Whole Exome Sequencing in Eight Thai Families With Hereditary Pyropoikilocytosis Presenting With Severe Fetal and Neonatal Anaemia

British Journal of Haematology

Hematology

2018

English

Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas

Nature Communications

English

Whole Exome Sequencing in Extended Families With Autism Spectrum Disorder Implicates Four Candidate Genes

Human Genetics

Genetics

2015

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Hong-Joon Park

Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing

Clinical and Molecular Characterizations of Novel POU3F4 Mutations Reveal That DFN3 Is Due to Null Function of POU3F4 Protein

Related publications

Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing

Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing

Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

TCOF1 Pathogenic Variants Identified by Whole-Exome Sequencing in Chinese Treacher Collins Syndrome Families and Hearing Rehabilitation Effect

Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Novel Mutations in SPTA1 and SPTB Identified by Whole Exome Sequencing in Eight Thai Families With Hereditary Pyropoikilocytosis Presenting With Severe Fetal and Neonatal Anaemia

Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas

Whole Exome Sequencing in Extended Families With Autism Spectrum Disorder Implicates Four Candidate Genes