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Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafé L, Superti-Furga A, Unger S. Dikoglu E, et al. Among authors: chae jh. Am J Med Genet A. 2015 Jul;167(7):1501-9. doi: 10.1002/ajmg.a.37029. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25808063
Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ. Yuldashev AJ, et al. Among authors: chae jh. Clin Orthop Surg. 2017 Mar;9(1):109-115. doi: 10.4055/cios.2017.9.1.109. Epub 2017 Feb 13. Clin Orthop Surg. 2017. PMID: 28261436 Free PMC article.
Regarding Camurati-Engelmann Disease: In Reply.
Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ. Yuldashev AJ, et al. Among authors: chae jh. Clin Orthop Surg. 2018 Mar;10(1):118. doi: 10.4055/cios.2018.10.1.118. Epub 2018 Feb 27. Clin Orthop Surg. 2018. PMID: 29564057 Free PMC article. No abstract available.
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Lee S, Yoon JG, Hong J, Kim T, Kim N, Vandrovcova J, Yau WY, Cho J, Kim S, Kim MJ, Kim SY, Lee ST, Chu K, Lee SK, Kim HJ, Choi J, Moon J, Chae JH. Lee S, et al. Among authors: chae jh. Neurol Genet. 2024 May 20;10(3):e200147. doi: 10.1212/NXG.0000000000200147. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38779172 Free PMC article.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S. Kalm T, et al. Among authors: chae jh. Am J Hum Genet. 2024 Jun 6;111(6):1206-1221. doi: 10.1016/j.ajhg.2024.04.019. Epub 2024 May 20. Am J Hum Genet. 2024. PMID: 38772379 Free article.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: chae jh. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
464 results