Research output per year
Research output per year
Personal profile
Research Interests
1. Amelogenesis imperfecta
2. Dentinogenesis imperfecta
3. Oligodontia and hypodontia
4. Molar Incisor Hypomineralization
5. Molar Root-Incisor Malformation
[ Key words ] Dental Genetic Disorders, Whole Exome Sequencing, Genetics
Major Research Achievements
Wright JT, Curran A, Kim KJ, Yang YM, Nam SH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Kim JW. Molar root-incisor malformation: considerations of diverse developmental and etiologic factors. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016 121(2):164- 172. PubMed PMID: 26682518.
Kim YJ, Seymen F, Koruyucu M, Kasimoglu Y, Gencay K, Shin TJ, Hyun HK, Lee ZH, Kim JW. Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. Oral Dis. 2016 Jan 13. doi: 10.1111/odi.12439. 2016 May 22(4):297-302 PubMed PMID: 26762616.
Kim YJ, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW. A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in molar region. Eur J Oral Sci. 2016 Aug;124(4):403-5.
Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Am J Hum Genet. 2016 Nov 3;99(5):1199-1205. doi: 10.1016/j.ajhg.2016.09.018
Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW. A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. Arch Oral Biol. 2017 Apr;76(4):61-65.
Kim YJ, Kang J, Seymen F, Koruyucu M, Gencay K, Shin TJ, Hyun HK, Lee ZH, Hu JC, Simmer JP, Kim JW. Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. Front Physiol. 2017 Apr 20;8:229. doi:10.3389/fphys.2017.00229. eCollection 2017. PubMed PMID: 28473773; PubMed Central PMCID: PMC5397402.
Lee JW, Kim YJ, Kang J, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Kim JW. Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. Oral Dis. 2018 Sep;24(6):1037-1041. doi: 10.1111/odi.12859. Epub 2018 Jun 8. PubMed PMID: 29566451.
Koruyucu M, Kang J, Kim YJ, Seymen F, Kasimoglu Y, Lee ZH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Hu JCC, Simmer JP, Kim JW. Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations. J Dent Res. 2018 Aug;97(9):1064-1069. doi:10.1177/0022034518763152. Epub 2018 Mar 19. PubMed PMID: 29554435; PubMed Central PMCID: PMC6055254.
Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet 2019 Mar;95(3):375-383. doi: 10.1111/cge.13487. PubMed PMID:30506946.
Kim YJ, Seymen F, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Tuna EB, Lee ZH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Hu J, Simmer J, Kim JW. Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. Clin Oral Investig. 2019 Mar;23(3):1481-1487. doi: 10.1007/s00784-018-2577-9. Epub 2018 Aug 17. PubMed PMID: 30120606; PubMed Central PMCID: PMC6378126.
Park H, Song JS, Shin TJ, Hyun HK, Kim YJ, Kim JW. WNT10A mutations causing oligodontia. Arch Oral Biol. 2019 Jul;103:8- 11. doi:10.1016/j.archoralbio.2019.05.007. Epub 2019 May 9. PubMed PMID: 31103801.
Lee JW, Hong J, Seymen F, Kim YJ, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Song JS, Shin TJ, Hyun HK, Kim YJ, Lee JC, Park JC, Hu J, Simmer J, Kim JW. Novel frameshift mutations in DSPP cause dentin dysplasia type II. Oral Dis. 2019 Nov;25(8):2044-2046. doi: 10.1111/odi.13182. Epub 2019 Sep 11. PubMed PMID: 31454439.
Kim YJ, Kang J, Seymen F, Koruyucu M, Zhang H, Kasimoglu Y, Bayram M, Tuna-Ince EB, Bayrak S, Tuloglu N, Hu JC, Simmer JP, Kim JW. Alteration of Exon Definition Causes Amelogenesis Imperfecta. J Dent Res. 2020 April;99(4):410-418. doi: 10.1177/0022034520901708. PubMed PMID: 31999931.
Song JS, Bae M, Kim JW. Novel TSPEAR mutations in non-syndromic oligodontia. Oral Dis. 2020 May;26(4):847-849. doi: 10.1111/odi.13316. Epub 2020 Mar 19. PubMed PMID: 32112661
Park H, Hyun HK, Woo KM, Kim JW. Physicochemical properties of dentinogenesis imperfecta with a known DSPP mutation. Arch Oral Biol. 2020 Sep;117:104815. doi: 10.1016/j.archoralbio.2020.104815. Epub 2020 Jun 13. PMID: 32585446.
Ryu YH, Kyun Chae J, Kim JW, Lee S. Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature. Mol Genet Genomic Med. 2020 Oct;8(10):e1412. doi: 10.1002/mgg3.1412. PMID: 32715658.
Kim YJ, Seymen F, Koruyucu M, Kasimoglu Y, Gencay K, Shin TJ, Hyun HK, Lee ZH, Kim JW. Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. Oral Dis. 2016 Jan 13. doi: 10.1111/odi.12439. 2016 May 22(4):297-302 PubMed PMID: 26762616.
Kim YJ, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW. A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in molar region. Eur J Oral Sci. 2016 Aug;124(4):403-5.
Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Am J Hum Genet. 2016 Nov 3;99(5):1199-1205. doi: 10.1016/j.ajhg.2016.09.018
Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW. A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. Arch Oral Biol. 2017 Apr;76(4):61-65.
Kim YJ, Kang J, Seymen F, Koruyucu M, Gencay K, Shin TJ, Hyun HK, Lee ZH, Hu JC, Simmer JP, Kim JW. Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. Front Physiol. 2017 Apr 20;8:229. doi:10.3389/fphys.2017.00229. eCollection 2017. PubMed PMID: 28473773; PubMed Central PMCID: PMC5397402.
Lee JW, Kim YJ, Kang J, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Kim JW. Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. Oral Dis. 2018 Sep;24(6):1037-1041. doi: 10.1111/odi.12859. Epub 2018 Jun 8. PubMed PMID: 29566451.
Koruyucu M, Kang J, Kim YJ, Seymen F, Kasimoglu Y, Lee ZH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Hu JCC, Simmer JP, Kim JW. Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations. J Dent Res. 2018 Aug;97(9):1064-1069. doi:10.1177/0022034518763152. Epub 2018 Mar 19. PubMed PMID: 29554435; PubMed Central PMCID: PMC6055254.
Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet 2019 Mar;95(3):375-383. doi: 10.1111/cge.13487. PubMed PMID:30506946.
Kim YJ, Seymen F, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Tuna EB, Lee ZH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Hu J, Simmer J, Kim JW. Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. Clin Oral Investig. 2019 Mar;23(3):1481-1487. doi: 10.1007/s00784-018-2577-9. Epub 2018 Aug 17. PubMed PMID: 30120606; PubMed Central PMCID: PMC6378126.
Park H, Song JS, Shin TJ, Hyun HK, Kim YJ, Kim JW. WNT10A mutations causing oligodontia. Arch Oral Biol. 2019 Jul;103:8- 11. doi:10.1016/j.archoralbio.2019.05.007. Epub 2019 May 9. PubMed PMID: 31103801.
Lee JW, Hong J, Seymen F, Kim YJ, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Song JS, Shin TJ, Hyun HK, Kim YJ, Lee JC, Park JC, Hu J, Simmer J, Kim JW. Novel frameshift mutations in DSPP cause dentin dysplasia type II. Oral Dis. 2019 Nov;25(8):2044-2046. doi: 10.1111/odi.13182. Epub 2019 Sep 11. PubMed PMID: 31454439.
Kim YJ, Kang J, Seymen F, Koruyucu M, Zhang H, Kasimoglu Y, Bayram M, Tuna-Ince EB, Bayrak S, Tuloglu N, Hu JC, Simmer JP, Kim JW. Alteration of Exon Definition Causes Amelogenesis Imperfecta. J Dent Res. 2020 April;99(4):410-418. doi: 10.1177/0022034520901708. PubMed PMID: 31999931.
Song JS, Bae M, Kim JW. Novel TSPEAR mutations in non-syndromic oligodontia. Oral Dis. 2020 May;26(4):847-849. doi: 10.1111/odi.13316. Epub 2020 Mar 19. PubMed PMID: 32112661
Park H, Hyun HK, Woo KM, Kim JW. Physicochemical properties of dentinogenesis imperfecta with a known DSPP mutation. Arch Oral Biol. 2020 Sep;117:104815. doi: 10.1016/j.archoralbio.2020.104815. Epub 2020 Jun 13. PMID: 32585446.
Ryu YH, Kyun Chae J, Kim JW, Lee S. Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature. Mol Genet Genomic Med. 2020 Oct;8(10):e1412. doi: 10.1002/mgg3.1412. PMID: 32715658.
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EDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression
Lee, Y. J., Kim, Y. J., Chae, W., Kim, S. H. & Kim, J. W., Jan 2025, In: Genes. 16, 1, 12.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Severe hypoplastic enamel as a primary manifestation of hypophosphatasia: A case report
Kim, Y. J., Kim, S. H. & Kim, J. W., Jan 2025, In: Journal of Dental Sciences. 20, 1, p. 686-688 3 p.Research output: Contribution to journal › Letter › peer-review
Open Access -
Critical Considerations in Calling Disease-Causing EDAR Mutations in Nonsyndromic Oligodontia
Kim, Y. J., Gu, S. Y., Chae, W., Kim, S. H. & Kim, J. W., Dec 2024, In: Journal of Clinical Medicine. 13, 23, 7328.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Image segmentation of impacted mesiodens using deep learning
Kim, H., Song, J. S., Shin, T. J., Kim, Y. J., Kim, J. W., Jang, K. T. & Hyun, H. K., May 2024, In: Journal of Clinical Pediatric Dentistry. 48, 3, p. 52-58 7 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Novel PAX9 Mutations Causing Isolated Oligodontia
Lee, Y. J., Lee, Y., Kim, Y. J., Lee, Z. H. & Kim, J. W., Feb 2024, In: Journal of Personalized Medicine. 14, 2, 191.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations