Jung Min Ko

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 34

Top Topics

Intellectual Disability

Gene Expression

Top Venues

Annals of laboratory medicine

Molecular genetics & genomic medicine

European journal of pediatrics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Seon Woo Kim, Hyeon Joo Lee, Naye Choi, Ee-Kyung Kim, Jung Min Ko
Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency. Molecular genetics & genomic medicine 12 (8) (2024)
Naye Choi, Hwa Young Kim, Jung Min Ko
Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome. Clinical genetics (2024)
Naye Choi, Hwa Young Kim, Jung Min Ko
Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome. Clinical genetics 105 (5) (2024)
Joowon Jang, Hara Im, Hyesu Lee, Hobin Sung, Sung Im Cho, Jee Soo Lee, Jung Min Ko, Moon-Woo Seong
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B . Annals of laboratory medicine (2024)
Naye Choi, Hwa Young Kim, Jung Min Ko
Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome. Clinical genetics 105 (5) (2024)
Naye Choi, Hwa Young Kim, Jung Min Ko
Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome. Clinical genetics 105 (5) (2024)
Min Jeong Lee, Ji Soo Park, Kyunghoon Kim, Jung Min Ko, June Dong Park, Dong In Suh
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center. European journal of pediatrics 183 (8) (2024)
Min Jeong Lee, Ji Soo Park, Kyunghoon Kim, Jung Min Ko, June Dong Park, Dong In Suh
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center. European journal of pediatrics (2024)
Min Jeong Lee, Ji Soo Park, Kyunghoon Kim, Jung Min Ko, June Dong Park, Dong In Suh
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center. European journal of pediatrics 183 (8) (2024)
Seon Woo Kim, Hyeon Joo Lee, Naye Choi, Ee-Kyung Kim, Jung Min Ko
Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency. Molecular genetics & genomic medicine 12 (8) (2024)
Min Jeong Lee, Ji Soo Park, Kyunghoon Kim, Jung Min Ko, June Dong Park, Dong In Suh
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center. European journal of pediatrics 183 (8) (2024)
Hwa Young Kim, Choong-Ho Shin, Chang Ho Shin, Jung Min Ko
Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders. PloS one 18 (8) (2023)
Heerah Lee, Jung Ae Lee, Hyesu Lee, Jee Soo Lee, Jung Min Ko, Man Jin Kim, Moon-Woo Seong
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome. Annals of laboratory medicine 43 (6) (2023)
Young Eun Lee, Hyun Jin Park, Hyoung Jin Kang, Jung Min Ko, Boram Kim, Yoon Hwan Chang, Hyun Kyung Kim, Jee-Soo Lee, Man Jin Kim, Woonhyoung Lee, Moon-Woo Seong
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism. Annals of laboratory medicine 42 (3) (2022)
Sujung Mok, Sam Yeol Chang, Sung Cheol Park, Ihn Seok Chae, Hyoungmin Kim, Bong-Soon Chang, Tae-Joon Cho, Jung Min Ko
Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis. Clinics in orthopedic surgery 14 (3) (2022)
Hwa Young Kim, Man Jin Kim, Moon-Woo Seong, Jung Min Ko
Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II. Annals of laboratory medicine 42 (3) (2022)
Hwa Young Kim, Young Ah Lee, Choong Ho Shin, Tae-Joon Cho, Jung Min Ko
Clinical manifestations and outcomes of 20 Korean hypochondroplasia patients with the FGFR3 N540K variant. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association (2022)
Hwa Young Kim, Choong-Ho Shin, Young Ah Lee, Chang Ho Shin, Gu Hwan Kim, Jung Min Ko
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome. Annals of laboratory medicine 42 (6) (2022)
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Woonhyoung Lee, Jung Min Ko, Moon-Woo Seong, Jong-Hee Chae
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Annals of laboratory medicine 43 (3) (2022)
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Woonhyoung Lee, Jung Min Ko, Moon-Woo Seong, Jong-Hee Chae
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Annals of laboratory medicine 43 (3) (2022)
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Woonhyoung Lee, Jung Min Ko, Moon-Woo Seong, Jong-Hee Chae
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Annals of laboratory medicine 43 (3) (2022)
Chang Ho Shin, Chaemoon Lim, Hwa Young Kim, Won Joon Yoo, Tae-Joon Cho, In Ho Choi, Jung Min Ko
Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy. Orphanet journal of rare diseases 16 (1) (2021)
Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong-Hee Chae, Soo Yeon Kim, Jung Min Ko
Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome. Molecular genetics & genomic medicine 9 (10) (2021)
Hwa Young Kim, Hyun Beom Song, Kyu Han Kim, Jeong Hun Kim, Jong-Hee Chae, Man Jin Kim, Moon-Woo Seong, Jung Min Ko
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene. Experimental dermatology 30 (5) (2021)
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun-Dae Kim, Ah-Ra Kim, Boryeong Park, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jeong Kee Seo, Young Bae Sohn, Ok-Hwa Kim, Jung Min Ko, Tae-Joon Cho, Nathan T Wright, Je-Kyung Seong, Suk-Won Jin, Hyoung Jin Kang, Hyeon Ho Kim, Murim Choi
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood 138 (21) (2021)
Soo Yeon Kim, Chang Ho Shin, Young Ah Lee, Choong-Ho Shin, Sei Won Yang, Tae-Joon Cho, Jung Min Ko
Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome. Annals of laboratory medicine 41 (4) (2021)
Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon-Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong-Hee Chae
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. Molecular genetics & genomic medicine 9 (6) (2021)
Sanaa Choufani, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman, Rosanna Weksberg
Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. Genes 12 (2) (2021)
Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim, Jung Min Ko
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations. Orphanet journal of rare diseases 15 (1) (2020)
Sohyun Shin, Dong In Suh, Jung Min Ko, June Dong Park, Jeong-Moo Lee, Nam-Joon Yi, Young Tae Kim, Samina Park, Seung Hyun Lee, Jaemoon Koh, Yu Hyeon Choi
Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita. Pediatric transplantation 25 (2) (2020)
Seung Hoon Lee, Jung Min Ko, Mi Kyoung Song, Junghan Song, Kyung Sun Park
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy. Molecular genetics & genomic medicine 8 (9) (2020)
Yoo Jinie Kim, Jung Min Ko, Junghan Song, Kyung A Lee
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases. Annals of laboratory medicine 38 (6) (2019)
Jaehui Ryu, Jung Min Ko, Choong-Ho Shin
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up. BMC medical genetics 20 (1) (2019)
Jung Min Ko, Kyung Sun Park, Yeeok Kang, Seong Hyeuk Nam, Yoonjung Kim, Inho Park, Hyun Wook Chae, Soon Min Lee, Kyung-A Lee, Jong Won Kim
A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases. Yonsei medical journal 59 (5) (2018)
Jieun Seo, In-Ho Choi, Je Sang Lee, Yongjin Yoo, Nayoung K D Kim, Murim Choi, Jung Min Ko, Yong Beom Shin
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. Journal of human genetics 60 (4) (2015)
Young-Jun Rhie, Kee-Hyoung Lee, Jung Min Ko, Woo Jung Lee, Jung Hyun Kim, Ho Seong Kim
KISS1 gene polymorphisms in Korean girls with central precocious puberty. Journal of Korean medical science 29 (8) (2014)
Young Rok Choi, Nam-Joon Yi, Jeong Kee Seo, Jung Min Ko, Ung Sik Jin, Hee Soo Kim, Kook Hyun Lee, Tae-Joon Cho, Suk-Won Suh, Tae Yoo, Kwang-Woong Lee, Kyung-Suk Suh
Living donor liver transplantation for an infant with osteogenesis imperfecta and intrahepatic cholestasis: report of a case. Journal of Korean medical science 29 (3) (2014)