Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

Authors: Hwang, Soojin, Choi, Yunha, Lee, Beom Hee, Choi, Jin‐Ho, Kim, Ja Hye, Yoo, Han‐Wook

Source: JIMD reports. 64(1):27-34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185770545.0x000001&indx=1&recIds=ETOCvdc_100185770545.0x000001

Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II

Authors: Kim, Ja Hye, Park, Ji‐Hyung, Lee, Junehawk, Park, Jung Woo, Kim, Hyun Jung, Chang, Won Seok, Kim, Dong‐Seok, Ju, Young Seok, Aronica, Eleonora, Lee, Jeong Ho

Source: Annals of neurology. 93(6):1082-1093

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184323996.0x000001&indx=1&recIds=ETOCvdc_100184323996.0x000001

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.

Authors: Kim, Ja Hye¹ (AUTHOR), Lee, Yena² (AUTHOR), Hwang, Soojin¹ (AUTHOR), Kim, Dohyung¹ (AUTHOR), Lee, Beom Hee^1,3 (AUTHOR), Kim, Gu-Hwan³ (AUTHOR), Yoo, Han-Wook¹ (AUTHOR), Choi, Jin-Ho¹ (AUTHOR) jhc@amc.seoul.kr

Source: Experimental & Clinical Endocrinology & Diabetes. Feb2025, Vol. 133 Issue 2, p83-91. 9p.

Subject Terms: *GLYCOGEN storage disease, *DUAL-energy X-ray absorptiometry, *LDL cholesterol, *BONE density, *SHORT stature

Growth Trajectories of Children Born Preterm and Full-Term With Low Birth Weight to Preschool Ages: A Nationwide Study.

Authors: Cha, Jong Ho, Kang, Eungu, Na, Jae Yoon, Ryu, Soorack, Choi, Young-Jin, Kim, Ja Hye

Source: Journal of Clinical Endocrinology & Metabolism; Feb2025, Vol. 110 Issue 2, pe283-e293, 11p

Subject Terms: LOW birth weight, SHORT stature, BODY mass index, BIRTH weight, GROWTH of children, GENERALIZED estimating equations

Low-Level Brain Somatic Mutations Are Implicated in Schizophrenia

Authors: Kim, Myeong-Heui, Kim, Il Bin, Lee, Junehawk, Cha, Do Hyeon, Park, Sang Min, Kim, Ja Hye, Kim, Ryunhee, Park, Jun Sung, An, Yohan, Kim, Kyungdeok, Kim, Seyeon, Webster, Maree J., Kim, Sanghyeon, Lee, Jeong Ho

Source: In Biological Psychiatry 1 July 2021 90(1):35-46

Beyond CHD7gene: unveiling genetic diversity in clinically suspected CHARGE syndrome

Authors: Kim, Dohyung, Yoon, Ji-Hee, Bae, Hyunwoo, Hwang, Soojin, Seo, Go Hun, Koh, June-Young, Ju, Young Seok, Do, Hyo-Sang, Kim, Soyoung, Choi, In Hee, Kim, Gu-Hwan, Kim, Ja Hye, Choi, Jin-Ho, Lee, Beom Hee

Source: Journal of Human Genetics; 20250101, Issue: Preprints p1-6, 6p

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.

Authors: Kim, Il Bin, Kim, Myeong-Heui, Jung, Saehoon, Kim, Woo Kyeong, Lee, Junehawk, Ju, Young Seok, Webster, Maree J., Kim, Sanghyeon, Kim, Ja Hye, Kim, Hyun Jung, Kim, Junho, Kim, Sangwoo, Lee, Jeong Ho

Source: Experimental & Molecular Medicine EMM; Aug2024, Vol. 56 Issue 8, p1750-1762, 13p

Cardioprotective effect of substance P in a porcine model of acute myocardial infarction

Authors: Sim, Doo Sun, Kim, Weon, Lee, Kyung Hye, Song, Ho Chun, Kim, Ja Hye, Park, Dae Sung, Lim, Kyung Seob, Woo, Jong Shin, Hong, Young Joon, Ahn, Youngkeun, Hong, Hyun Sook, Son, Youngsook, Jeong, Myung Ho

Source: In International Journal of Cardiology 15 November 2018 271:228-232

Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.

Authors: Kim, Ja Hye¹ (AUTHOR), Hwang, Shinwon^2,3 (AUTHOR), Son, Hyeonju^2,4 (AUTHOR), Kim, Dongsun^2,4 (AUTHOR), Kim, Il Bin^1,5 (AUTHOR), Kim, Myeong-Heui^1,6 (AUTHOR), Sim, Nam Suk^1,7 (AUTHOR), Kim, Dong-Seok⁸ (AUTHOR), Ha, Yoo-Jin^2,4 (AUTHOR), Lee, Junehawk⁹ (AUTHOR), Kang, Hoon-Chul¹⁰ (AUTHOR), Lee, Jeong Ho^1,6 (AUTHOR) jhlee4246@kaist.ac.kr, Kim, Sangwoo^2,4 (AUTHOR) jhlee4246@kaist.ac.kr

Source: PLoS Genetics. 9/19/2022, Vol. 18 Issue 9, p1-18. 18p.

Subject Terms: *SOMATIC mutation, *MOSAICISM, *GENE frequency, *GENETIC mutation, *TISSUES

Bone Mineral Density According to Dual Energy X-ray Absorptiometry is Associated with Serial Serum Alkaline Phosphatase Level in Extremely Low Birth Weight Infants at Discharge

Authors: Lee, Jin, Park, Hyun-Kyung, Kim, Ja Hye, Choi, Yun Young, Lee, Hyun Ju

Source: In Pediatrics & Neonatology June 2017 58(3):251-257

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development

Authors: Kim, Ja Hye, Kang, Eungu, Heo, Sun Hee, Kim, Gu-Hwan, Jang, Ja-Hyun, Cho, Eun-Hae, Lee, Beom Hee, Yoo, Han-Wook, Choi, Jin-Ho

Source: In Molecular and Cellular Endocrinology 15 March 2017 444:19-25

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes

Authors: Choi, Jin-Ho, Cho, Ja Hyang, Kim, Ja Hye, Yoo, Eun-Gyong, Kim, Gu-Hwan, Yoo, Han-Wook

Source: Hormone research in pædiatrics. 90(5):283-290

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084697576.0x000001&indx=1&recIds=ETOCvdc_100084697576.0x000001

Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.

Authors: Kim, Ja Hye¹ (AUTHOR), Lee, Yena¹ (AUTHOR), Hwang, Soojin¹ (AUTHOR), Yoon, Ji-Hee¹ (AUTHOR), Kim, Gu-Hwan² (AUTHOR), Yoo, Han-Wook¹ (AUTHOR), Choi, Jin-Ho¹ (AUTHOR) jhc@amc.seoul.kr

Source: Experimental & Clinical Endocrinology & Diabetes. Jan2024, Vol. 132 Issue 1, p39-46. 8p.

Subject Terms: *CHORIONIC villus sampling, *INSULINOMA, *TUMORS, *INTESTINAL perforation, *TEENAGERS, *MEDULLARY thyroid carcinoma, *MEDICAL screening

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.

Authors: Kim, Ja Hye¹ (AUTHOR), Choi, Yunha¹ (AUTHOR), Hwang, Soojin¹ (AUTHOR), Yoon, Ji-Hee¹ (AUTHOR), Kim, Gu-Hwan² (AUTHOR), Yoo, Han-Wook¹ (AUTHOR), Choi, Jin-Ho¹ (AUTHOR) jhc@amc.seoul.kr

Source: Experimental & Clinical Endocrinology & Diabetes. Oct2023, Vol. 131 Issue 10, p515-522. 8p.

Subject Terms: *TUMORS in children, *ADRENAL tumors, *PARAGANGLIOMA, *ADRENOGENITAL syndrome, *ADRENOCORTICAL hormones, *CUSHING'S syndrome, *TEENAGERS

Clinical and molecular characteristics of Korean patients with Kabuki syndrome

Authors: Yoon, Ji-Hee, Hwang, Soojin, Bae, Hyunwoo, Kim, Dohyung, Seo, Go Hun, Koh, June-Young, Ju, Young Seok, Do, Hyo-Sang, Kim, Soyoung, Kim, Gu-Hwan, Kim, Ja Hye, Choi, Jin-Ho, Lee, Beom Hee

Source: Journal of Human Genetics; 20240101, Issue: Preprints p1-7, 7p

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Authors: Choi, Jin-Ho, Lee, Beom Hee, Kim, Ja Hye, Kim, Gu-Hwan, Kim, Yoo-Mi, Cho, Jahyang, Cheon, Chong-Kun, Ko, Jung Min, Lee, Jung Hyun, Yoo, Han-Wook

Source: Journal of human genetics. 60(9):501-507

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194161674.0x000001&indx=1&recIds=ETOCvdc_100194161674.0x000001

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism

Authors: Kim, Ja Hye, Shin, Young‐Lim, Yang, Seung, Cheon, Chong Kun, Cho, Ja Hyang, Lee, Beom Hee, Kim, Gu‐Hwan, Lee, Jin Ok, Seo, Eul Joo, Choi, Jin‐Ho, Yoo, Han‐Wook

Source: Clinical endocrinology. 83(6):790-796

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178366014.0x000001&indx=1&recIds=ETOCvdc_100178366014.0x000001

Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly

Authors: Lee, Beom Hee, Kim, Yoo-Mi, Kim, Ja Hye, Kim, Gu-Hwan, Kim, Jae-Min, Kim, Joo Hyun, Woo, Kyu Ha, Yang, Song Hyun, Kim, Chong Jai, Choi, In-Hee, Yoo, Han-Wook

Source: Journal of pediatric gastroenterology and nutrition. 60(3):e19-e22

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100037237135.0x000001&indx=1&recIds=ETOCvdc_100037237135.0x000001

A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety adn Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease

Authors: Choi, Jin-Ho, Lee, Beom Hee, Ko, Jung Min, Sohn, Young Bae, Lee, Jin-Sung, Kim, Gu-Hwan, Heo, Sun Hee, Park, June-Young, Kim, Yoo-Mi, Kim, Ja-Hye

Source: Journal of Korean medical science. 30(4):378-384

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN600277510&indx=1&recIds=ETOCRN600277510

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease

Authors: Hwang, Soojin, Lee, Beom Hee, Kim, Woo-Shik, Kim, Dae-Seong, Cheon, Chong Kun, Lee, Chang Hwa, Choi, Yunha, Choi, Jin-Ho, Kim, Ja Hye, Yoo, Han-Wook

Source: Medicine. 101(37):e30345-e30345

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177603574.0x000001&indx=1&recIds=ETOCvdc_100177603574.0x000001