Kim YM, Oh AR, Han HS, Yu J, Yu J, Lee TK, Lee GM, Choe J, Oh JS, Lim HH. Impact of COVID-19 on Growth Hormone Therapy Efficacy in Pediatric Patients with Short Stature. Endocr Connect. 2025 Jul 25:EC-25-0218. doi: 10.1530/EC-25-0218. Online ahead of print. View PubMed(상세보기)

Hwang S, Seo GH, Choi IH, Ryue SW, Oh JY, Kim YM, Eun BL, Byeon JH, Kang E, Kim M, Kim HS, Lee S, Kim HW, Kim D, Khang R, Kim J, Moon D, Jang S, Song Y, Kim GH, Kim KB, Park JH, Yang SY, Choi YK, Ji SM, Kim OH, Park MH, Park HY, Lee BH. Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study. Clin Transl Med. 2025 Jul;15(7):e70401. doi: 10.1002/ctm2.70401. View PubMed(상세보기)

Kim YM. Commentary on "Somatrogon in pediatric growth hormone deficiency: a comprehensive review of clinical trials and real-world considerations". Ann Pediatr Endocrinol Metab. 2025 Feb;30(1):1-2. doi: 10.6065/apem.2524129edi01. View PubMed(상세보기)

Park JW, Choi TI, Kim TY, Lee YR, Don DW, George-Abraham JK, Robak LA, Trandafir CC, Liu P, Rosenfeld JA, Kim TH, Petit F, Kim YM, Cheon CK, Lee Y, Kim CH. RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model. J Genet Genomics. 2024 Dec;51(12):1389-1403. doi: 10.1016/j.jgg.2024.09.016. View PubMed(상세보기)

Lee YY, Lim HH, Son S, Jin S, Shin JM, Hong DK, Jung KE, Seo YJ, Lee TK, Kim YM, Lee Y. Efficacy and safety of topical corticosteroid treatment under occlusion for severe alopecia areata in children: a single-centre retrospective analysis. Clin Exp Dermatol. 2024 Sep 18;49(10):1125-1130. doi: 10.1093/ced/llae085. View PubMed(상세보기)

Lee IK, Kim YM, Lim HH. Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010-2011. J Pediatr Endocrinol Metab. 2024 May 17;37(6):553-558. doi: 10.1515/jpem-2023-0520. View PubMed(상세보기)

Lee TK, Kim YM, Lim HH. Comparison of anthropometric, metabolic, and body compositional abnormalities in Korean children and adolescents born small, appropriate, and large for gestational age: a population-based study from KNHANES V (2010-2011). Ann Pediatr Endocrinol Metab. 2024 Feb;29(1):29-37. doi: 10.6065/apem.2346044.022. View PubMed(상세보기)

Kim YM, Lim HH, Kim E, Kim G, Kim M, So H, Lee BK, Kwon Y, Min J, Lee YS, Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Smaill for Gestational Age. J Clin Med. 2023 Oct 13;12(20):6508. View PubMed(상세보기)

Kim EN, Do HS, Jeong H, Kim T, Heo SH, Kim YM, Cheon CK, Lee Y, Choi Y, Choi IH, Choi J, Yoo HW, Kim CJ, Zimran A, Kim K, Lee BH. Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease. Clin Transl Med. 2022 May;12(5):e862. View PubMed(상세보기)

Seo GH, Lee H, Lee J, Han H, Cho YK, Kim M, Choi Y, Choi J, Choi IH, Rhie S, Chae KY, Kim YM , Cheon CK, Kim SJ, Lee J, Kang E, Byeon JH, Yu HJ, Shin YL, Oh A, Kim WJ, Yum MS, Lee BH, Eun BL. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay. Mol Med. 2022 Mar 26;28 View PubMed(상세보기)

Lim HH, Kim YM, Lee GM, Yu J, Han HS, Yu J. Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency.J Korean Med Sci. 2022 Mar 21;37(11):e90. View PubMed(상세보기)

Lee Y, Choi Y, Seo GH, Kim GH, Keum C, Kim YM, Do HS, Choi J, Choi IH, Yoo HW, Lee BH. Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. BMC Med Genomics. 2021 Oct 27;14(1):254. View PubMed(상세보기)

Hwang WJ, Lim HH, Kim YM, et al. Pancreatic involvement in patients with inborn errors of metabolism. Orphanet J Rare Dis. 2021;16(1):37. View PubMed(상세보기)

Lee SY, Kim JM, Kim YM, Lim HH. Single random measurement of urinary gonadotropin concentration for screening and monitoring girls with central precocious puberty. Ann Pediatr Endocrinol Metab. 2021;26(3):178-184. View PubMed(상세보기)

Lee BH, Kim YM, Kim GH, Yoo HW. Severe Type of Neonatal Intrahepatic Cholestatic Jaundice by Citrin Deficiency. J Korean Soc Inher Metab Dis. 2012;12(1):35-41. View PubMed(상세보기)

Choi JH, Lee BH, Jung CW, Kim YM, Jin HY, Kim JM, et al. Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. Horm Res Paediatr. 2012;77(6):388-93. View PubMed(상세보기)

Kwun Y, Kim YM, Kim JH, Choi JH, Yoo HW. Clinical and Endocrine Characteristics of Patients with McCune-Albright Syndrome. J Korean Soc Inher Metab Dis 2013;13(2):120-125. View PubMed(상세보기)

Cho JH, Kim YM, Choi JH, Lee BH, Kim GH, Yoo HW. Clinical and molecular characterization of Korean patients with glycogen storage type 1b. J Korean Soc Inher Metab Dis 2015;15(1):18-24 View PubMed(상세보기)

Lim HH, Song WJ, Kim GH, Kim YM, et al. Somatic Cell Analysis and Cobalamin Responsiveness Study in Ten Korean Patients with Methylmalonic Aciduria. J Korean Soc Inher Metab Dis 2019;19(1):12-19. View PubMed(상세보기)

Lee BH, Kim YM, Heo SH, Kim GH, Choi IH, Lee BS, et al. High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. Mol Genet Metab. 2013;108(1):18-24. View PubMed(상세보기)

Heo SH, Choi JH, Kim YM, Jung CW, Lee J, Jin HY, et al. Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy. Proteomics. 2013;13(7):1211-9. View PubMed(상세보기)

Kim SJ, Lee BH, Kim YM, Kim GH, Yoo HW. Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant. Metab Brain Dis. 2013;28(3):519-22. View PubMed(상세보기)

Cho JM, Lee BH, Kim GH, Kim YM, Choi JH, Yoo HW. Chronic intermittent form of isovaleric aciduria in a 2-year-old boy. Korean J Pediatr. 2013;56(8):351-4. View PubMed(상세보기)

Lee BH, Kim GH, Oh TJ, et al. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. J Hum Genet. 2013;58(9):604-10. View PubMed(상세보기)

Lee BH, Kim YM, Kim JH, Kim GH, Lee BS, Kim CJ, et al. Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis. Brain Dev. 2014;36(2):171-5. View PubMed(상세보기)

Lee BH, Kim YM, Kim JH, et al. Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.J Pediatr Gastroenterol Nutr. 2015;60(3):e19-22. View PubMed(상세보기)

Woo KH, Lee BH, Heo SH, Kim JM, Kim GH, KimYM, et al. Allele frequency of a 24？bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease. J Hum Genet. 2014;59(5):276-9. View PubMed(상세보기)

Kim HK, Kim JH, Kim YM, KimGH, Lee BH, Choi JH, et al. Lowe syndrome: a single center's experience in Korea. Korean J Pediatr. 2014;57(3):140-8. View PubMed(상세보기)

Park J, Kim YM, Choi JH, et al. Turner syndrome with primary hyperparathyroidism. Ann Pediatr Endocrinol Metab. 2013;18(2):85-9. View PubMed(상세보기)

Kim JH, Lee BH, Kim YM, et al. Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. Metab Brain Dis. 2015;30(1):75-81. View PubMed(상세보기)

Lim JH, Seo EJ, Kim YM, et al. A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. Ann Lab Med. 2014;34(5):390-4. View PubMed(상세보기)

Jin HY, Heo SH, Kim YM, et al. High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr. 2014;82(4):252-60. View PubMed(상세보기)

Choi JH, Lee BH, Ko JM, et al. A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease. J Korean Med Sci. 2015;30(4):378-84. View PubMed(상세보기)

Kim JH, Kim YM, Yum MS, Choi JH, Lee BH, Kim GH, Yoo HW. Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations. Horm Res Paediatr. 2015;83(4):288-92. View PubMed(상세보기)

Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, et al. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. J Hum Genet. 2015;60(9):501-7. View PubMed(상세보기)

Kim HY, Kim YM, Park HJ. Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. Pediatr Pulmonol. 2017;52(2):E4-E6. View PubMed(상세보기)

Choi JH, Lee BH, Heo SH, et al.Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease byanationwide survey: Underdiagnosis of late-onset phenotype. Medicine(Baltimore).2017;96(29):e7387. View PubMed(상세보기)

Kim YA, Kim YM, Lee YJ, Cheon CK. The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation. Korean J Pediatr. 2017;60(12):408-412. View PubMed(상세보기)

Cheon CK, Lim SH, Kim YM, et al Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominantnegative mutation of KIF1A, SPG30 gene. Sci Rep. 2017;7(1):12527. View PubMed(상세보기)

Jo KJ, Kim YM, Yoon JY, et al. Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome. Korean J Pediatr. 2019;62(7):274-280. View PubMed(상세보기)

Jung J, Seo GH, Kim YM, Han YM, Park JK, Kim GH, et al.Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations. Medicine (Baltimore). 2020;99(19):e20113. View PubMed(상세보기)

Yang EJ, Park KM, Kim YM, Jung KS, Lim YT, Cheon CK. Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing. J Pediatr Hematol Oncol. 2020;42(3):e188-e192. View PubMed(상세보기)

Kim YM. Longterm Benefit and Unmet Needs in Enzyme Replacement Therapy of Gaucher. J Korean Soc Inher Metab Dis 2014;14(1):42-47. View PubMed(상세보기)

Kim YM, Cheon CK, Kim GH, Yoo HW. Heterogenous clinical manifestations in adult patients with late diagnosis of glycogen storage disease type Ia. J Korean Soc Inher Metab Dis 2015;15(1)9-17. View PubMed(상세보기)

Kim YM. A diagnostic algorithm after newborn screening for hypermethioninemia. J Korean Soc Inher Metab Dis 2016;16(1):1-9. View PubMed(상세보기)

[책임저자] Seo SH, Kim YM, Byun SY, et al.A case of lethal neonatal type carbamoyl phosphate synthetase 1 deficiency with novel mutation of CPS1. J Korean Soc Inher Metab Dis 2016;16(2):109-114. View PubMed(상세보기)

[책임저자] A Case of a 2-year-old Girl with Type I Gaucher Disease Presenting with Growth Retardation and Leg Pain. Park Y, Hwang JY, Hwang EH, Cheon CK, Lee BH, Yoo HW, Kim YM. J Korean Soc Inher Metab Dis 2017;17(2):63-66. View PubMed(상세보기)

Kim YM, Jin HY, Khang SK, Kim KR, Lee SR, Choi JH, Yoo HW. Two Cases of Pheochromocytoma Presented with Hypertension and Weight Loss. J Korean Soc Pediatr Endocrinol. 2010;15(2):145-149. View PubMed(상세보기)

Kim YM, Lee YJ, Oh SH, Sung H, Kim MN, Kim KM. Antimicrobial Resistance of Helicobacter pylori Isolated from Korean Children. Korean J Pediatr Gastroenterol Nutr. 2011;14(1):45-51. View PubMed(상세보기)

Kim YM, Choi JH, Lee BH, et al. Manifestation of Giant Bilateral Symptomatic Adrenal Myelolipomas in an Adult Patient with Congenital Adrenal Hyperplasia. Ann Pediatr Endocrinol Metab. 2012;17(4):244-248. View PubMed(상세보기)

Kim YM, Choi JH, Lee BH, Yoo HW. Efficacy of a Single Luteinizing Hormone Measurement after GnRH Agonist Administration for Therapeutic Monitoring of Girls with Central Precocious Puberty. Ann Pediatr Endocrinol Metab. 2012;17(3):153-159. View PubMed(상세보기)

Kim YM, Lee BH, Choi JH, Kim GH, Lim HH, Yoo HW. A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. Gene. 2013;527(1):394-6. View PubMed(상세보기)

Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, et al. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism. 2014;63(1):42-9. View PubMed(상세보기)

[공동주저자] Kim JH, Kim YM, Lee BH, Cho JH, Kim GH, Choi JH, Yoo HW. Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. J Hum Genet. 2015;60(7):395-7. View PubMed(상세보기)

Kim YM, Kim JH, Choi JH, Kim GH, Kim JM, Kang M, et al. Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.Mol Med. 2016;22:147？155. View PubMed(상세보기)

Kim YM, Cheon CK, Park KH, Park S, Kim GH, Yoo HW, et al. Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. Ann Clin Lab Sci.2016;46(4):360-6. View PubMed(상세보기)

[책임저자] Song JY, Mun SJ, Sung SK, et al. A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture. Ann Pediatr Endocrinol Metab. 2017;22(3):197-202. View PubMed(상세보기)

Kim YM, Shin DH, Park SB, Cheon CK, Yoo HW. Case Report of Unexpected Gastrointestinal Involvement in Type 1 Gaucher Disease: Comparison of Eliglustat Tartrate Treatment and Enzyme Replacement Therapy. BMC Genetics. 2017;18(1):55. View PubMed(상세보기)

Kim YM, Lee YJ, Park JH, et al. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. Clin Genet. 2017;92(6):594-605. View PubMed(상세보기)

Kim YM, Kim G, Ko H, Yoo HW, Lee HD.Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report. Medicine(Baltimore).2018;97(20):e10813. View PubMed(상세보기)

Kim YM, Cheon CK, Lim HH, Yoo HW.Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature. J Genet Med 2018;15:102-106. View PubMed(상세보기)

Kim YM, Seo GH, Kim YM, Choi JH, Yoo HW. Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases. Endocr J. 2018;65(3):307-315. View PubMed(상세보기)

[책임저자] Kim YA, Jin HY, Kim YM. Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1. J Korean Med Sci. 2019;34(9):e54. View PubMed(상세보기)

[책임저자] Kim YA, Kim SH, Cheon CK, Kim YM. A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency. Yonsei Med J. 2019;60(3):308-311 View PubMed(상세보기)

Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH. Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome. Ann Pediatr Endocrinol Metab. 2020;25(1):52-56. View PubMed(상세보기)

Kim YM, Lim HH, Chang M, Kim GH, Kang MH, Lee YW, et al. A neonate with hyperornithinemia-hyperammonemiahomocitrullinuria syndrome from a consanguineous Pakistani family. J Genet Med. 2019;16(2):85-89. View PubMed(상세보기)

Kim YM, Choi JH, Lee BH, Kim GH, Kim KM, Yoo HW. Predominance of the c.648G>T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia. Orphanet J Rare Dis. 2020;15(1):45. View PubMed(상세보기)

Kim YM. Improving the lives of children with neurofibromatosis type 1. Clin Exp Pediatr. 2021 Apr;64(4):165-166. View PubMed(상세보기)

Lee Y, Choi Y, Seo GH, Kim GH, Keum C, Kim YM, Do HS, Choi J, Choi IH, Yoo HW, Lee BH. Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. BMC Med Genomics. 2021 Oct 27;14(1):254. View PubMed(상세보기)

Jung J, Seo GH, Kim YM, et al. Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations. Medicine (Baltimore). 2020;99(19):e20113. View PubMed(상세보기)

[ 책임저자 ] Bae EY, Yi Y, Lim HH, Lee JM, Lee B, Kim SY, Kim YM. First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea. J Korean Med Sci. 2020 Oct 12;35(39):e357. View PubMed(상세보기)

[ 책임저자 ] Lee IK, Lim HH, Kim YM. The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings. Yonsei Med J. 2020 Nov;61(11):981-985. View PubMed(상세보기)

Kim YM, Choi JH, Kim GH, Sohn YB, Ko JM, Lee BH, Cheon CK, Lim HH, Heo SH, Yoo HW. The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects. Orphanet J Rare Dis. 2020 Nov 11;15(1):318. View PubMed(상세보기)

Kim YM , Lim HH. Association of Early Pubertal Onset in Female Rats With Inhalation of Lavender Oil. J Korean Med Sci. 2022 Jan 10;37(2):e9. View PubMed(상세보기)

Lim HH, Kim YM, Lee GM, Yu J, Han HS, Yu J. Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency. Korean Med Sci. 2022 Mar 21;37(11):e90. View PubMed(상세보기)

Seo GH, Lee H, Lee J, Han H, Cho YK, Kim M, Choi Y, Choi J, Choi IH, Rhie S, Chae KY, Kim YM , Cheon CK, Kim SJ, Lee J, Kang E, Byeon JH, Yu HJ, Shin YL, Oh A, Kim WJ, Yum MS, Lee BH, Eun BL. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay. Mol Med. 2022 Mar 26;28(1):38. View PubMed(상세보기)

Kim EN, Do HS, Jeong H, Kim T, Heo SH, Kim YM, Cheon CK, Lee Y, Choi Y, Choi IH, Choi J, Yoo HW, Kim CJ, Zimran A, Kim K, Lee BH. Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease. Clin Transl Med. 2022 May;12(5):e862. View PubMed(상세보기)

Choi IH, Seo GH, Park J, Kim YM , Cheon CK, Kim YM , Oh A, Byeon JH, Kang E, Shin YL, Lee JE, Kim SJ, Yu HJ, Kim WJ, Choi BY, Kim BJ, Kim YH, Im GJ, Lee HJ, Kim HJ, Han SH, Lee BH, Eun BL. Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases. Medicine (Baltimore). 2022 Jul 15;101(28):e29424. View PubMed(상세보기)

Kim YM. A new era of genetic diagnosis for short stature children: A review. Precis Future Med. 2022 Dec 29;6(4):218-225 View PubMed(상세보기)

Kim K, Lee JY, Kim YM , Kim G, Kim EH, Lee BK, So H, Kwon Y, Shin J, Kim M. Prevalence of asthma in preterm and associated risk factors based on prexss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-xss-scription data from the Korean National Health Insurance database. Sci Rep. 2023 Mar 18;13(1):4484. View PubMed(상세보기)