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Blue indicates papers of Heon Yung Gee as a corresponding author.

73. Yu SGee HY. Deep learning outperforms kidney organoid experts. Kidney Res Clin Pract. 2023 Jan;42(1):1-3. doi: 10.23876/j.krcp.22.174. Epub 2023 Jan 31.

72. Kim JA#, Kim SH#, Seo JS#, Noh H#, Jeong H, Kim J, Jeon D, Kim JJ, On D, Yoon S, Lee SG, Lee YW, Jang HJ, Park IH, Oh J, Seok SH, Lee YJ, Hong SM, An SH, Bae JY, Choi JA, Kim SY, Kim YB, Hwang JY, Lee HJ, Kim HB, Jeong DG, Song D, Song M, Park MS, Choi KS, Park JW, Yun JW, Shin JS, Lee HY, Seo JY*, Nam KT*, Gee HY*, Seong JK*. Temporal Transcriptome Analysis of SARS-CoV-2-Infected Lung and Spleen in Human ACE2-Transgenic Mice. Mol Cells. 2022 Dec 31;45(12):896-910. doi: 10.14348/molcells.2022.0089. Epub 2022 Nov 2.

71. Lee J, Lee J, Jeon S, Lee J, Jang I, Yang JO, Park S, Lee B, Choi J, Choi BO, Gee HY, Oh J, Jang IJ, Lee S, Baek D, Koh Y, Yoon SS, Kim YJ, Chae JH, Park WY, Bhak JH, Choi M. A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population. Exp Mol Med. 2022 Nov;54(11):1862-1871. doi: 10.1038/s12276-022-00871-4. Epub 2022 Nov 2.

70. Han JH, Kim SH, Moon IS, Joo SY, Kim JAGee HY*, Jung J*, Choi JY. Comprehensive Prediction Model, Including Genetic Testing, for the Outcomes of Cochlear Implantation. Biomedicines. 2022 Mar 29;10(4):798. doi: 10.3390/biomedicines10040798. (*co-correspondence)

69. Joo SY#, Na G#, Kim JA#, Yoo JE, Kim DH, Kim SJ, Jang SH, Yu S, Kim HY, Choi JY, Gee HY*, Jung J*. Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains. Biomedicines. 2022 Mar 29;10(4):798. doi: 10.3390/biomedicines10040798. (*co-correspondence)

68. Noh B#, Rim JH#, Gopalappa R#, Lin H, Kim KM, Kang MJ, Gee HY*, Choi JY*, Kim HH*, Jung J*. In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model. Theranostics . 2022 Feb 28;12(5):2465-2482. doi: 10.7150/thno.67781. eCollection 2022. (*co-correspondence)

67. Koh YI#, Oh KS#, Kim JA, Noh B, Choi HJ, Joo SY, Rim JH, Kim HY, Kim DY, Yu S, Kim DH, Lee SG, Jung J*, Choi JY*, Gee HY*. OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin. Autophagy.  2022 Mar 6;1-22. doi: 10.1080/15548627.2022.2040891. (*co-correspondence)

66. Kim JH, Hwang KH, Dang BTN, Eom M, Kong ID, Gwack Y, Yu S, Gee HY, Birnbaumer L, Park KS, Cha SK. Insulin-activated store-operated Ca 2+ entry via Orai1 induces podocyte actin remodeling and causes proteinuria. Nat Commun. 2021 Nov 11;12(1):6537. doi: 10.1038/s41467-021-26900-w.

65. Bae SH, Yoo JE, Hong JW, Park HR, Noh B, Kim H, Kang M, Hyun YM, Gee HY, Choi JY, Jung J. LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea. Hear Res. 2021 Dec;412:108378. doi: 10.1016/j.heares.2021.108378.

64. Rim JH, Gopalappa R, Gee HY. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. N Engl J Med. 2021 Oct 28;385(18):1722. doi: 10.1056/NEJMc2114592.

63. Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY*, Gee HY*, Jung J*. COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study. Hum Genet. 2021 Sep 16. doi: 10.1007/s00439-021-02368-y. (*co-correspondence)

62. Rim JH#, Noh B#, Koh YI, Joo SY, Oh KS, Kim K, Kim JA, Kim DH, Kim HY, Yoo JE, Lee ST, Bok JW, Lee MG, Jung J*, Choi JY*, Gee HY*. Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation. Hum Genet. 2021 Sep 14. doi: 10.1007/s00439-021-02367-z. (*co-correspondence)

61. Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YIGee HY, Cho HS, Kang TM, Choi BY. Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss. Exp Mol Med. 2021 Jul;53(7):1192-1204. doi: 10.1038/s12276-021-00653-4.

60. Kim KW,# Kim DY#, Yoon D#, Kim KK, Jang H, Schoettler N, Kim EG, Kim MN, Hong JY, Lee JK, Kim S, Ober C, Gee HY*, Sohn MH*. Genome-wide association study identifies TNFSF15 associated with childhood asthma. Allergy. 2021 May 22. doi: 10.1111/all.14952. Online ahead of print. PMID: 34022066 (*co-correspondence)

59. Rim JH, Choi JY, Jung J* , Gee HY* . Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss. Int J Mol Sci. 2021 Mar 2;22(5):2510. doi: 10.3390/ijms22052510. Review. (*co-correspondence)

58. Na G, Choi HJ, Joo SY, Rim JH, Kim JA, Kim HY, Yu S, Jeong Y, Shin GC, Noh HE, Lee HY, Kim DH, Gee HY* , Jung J* , Choi JY. Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant. Hear Res. 2021 May;404:108227. doi: 10.1016/j.heares.2021.108227. (*co-correspondence)

57. Kim JM#, Rim JH#, Kim DH#, Kim HY, Choi SK, Kim DY, Choi YJ, Yu S, Cheon JH*, Gee HY*. Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis. Clin Transl Med. 2021 Mar;11(3):e322. doi: 10.1002/ctm2.322. (*co-correspondence)

56. Rim JH, Youk T, Gee HY, Cho J, Yoo J. Dynamic Chronological Changes in Serum Triglycerides Are Associated With the Time Point for Non-alcoholic Fatty Liver Disease Development in the Nationwide Korean Population Cohort. Front Med (Lausanne). 2021 Mar 10;8:637241. doi: 10.3389/fmed.2021.637241. eCollection 2021.

55. Widmeier E#, Yu S#, Nag A, Chung YW, Nakayama M, Fernández-Del-Río L, Hugo H, Schapiro D, Buerger F, Choi WI, Helmstädter M, Kim JW, Ryu JH, Lee MG, Clarke CF, Hildebrandt F,* Gee HY*. ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment. J Am Soc Nephrol. 2020 Jun;31(6):1191-1211. doi: 10.1681/ASN.2019070756. Epub 2020 May 7. (*co-correspondence)
Please also the editorial related to this paper

54. Kim SR, Lee SG, Kim SH, Kim JH, Choi E, Cho W, Rim JH, Hwang I, Lee CJ, Lee M, Oh CM, Jeon JY, Gee HY, Kim JH, Lee BW, Kang ES, Cha BS, Lee MS, Yu JW, Cho JW, Kim JS, Lee YH. SGLT2 Inhibition Modulates NLRP3 Inflammasome Activity via Ketones and Insulin in Diabetes With Cardiovascular Disease. Nat Commun. 2020 May 1;11(1):2127. doi: 10.1038/s41467-020-15983-6.

53. Yu S#, Choi WI#, Choi YJ, Kim HY, Hildebrandt F, Gee HY. PLCE1 Regulates the Migration, Proliferation, and Differentiation of Podocytes. Exp Mol Med. 2020 Apr 1. doi: 10.1038/s12276-020-0410-4. Online ahead of print.

52. Park JH, Lee KH, Jeon B, Ochs HD, Lee JS, Gee HY, Seo S, Geum D, Piccirillo C, Eisenhut M, van der Vliet HJ, Lee JM, Kronbichler A, Ko Y, Shin JI. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome: A Systematic Review. Autoimmun Rev. 2020 Mar 29:102526. doi: 10.1016/j.autrev.2020.102526. Online ahead of print.

51. Kim J, Kim H, Noh SH, Jang DG, Park SY, Min D, Kim H, Kweon HS, Kim H, Aum S, Seo S, Choi CS, Kim H, Kim JW, Moon SJ, Gee HY, Lee MG. Grasp55 -/- Mice Display Impaired Fat Absorption and Resistance to High-Fat Diet-Induced Obesity. Nat Commun. 2020 Mar 17;11(1):1418. doi: 10.1038/s41467-020-14912-x.

50. Rim JH#, Choi YJ, Gee HY. Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation. Biomolecules. 2020 Mar 13;10(3):E449. doi: 10.3390/biom10030449.

49. Song MH, Jung J, Rim JH, Choi HJ, Lee HJ, Noh B, Lee JS, Gee HY*, Choi JY*. Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation. Ear Hear. 2020 Jan/Feb;41(1):114-124. doi: 10.1097/AUD.0000000000000734. (*co-correspondence)

48. Cha DH, Gee HY, Cachau R, Choi JM, Park D, Jee SH, Ryu S, Kim KK, Won HH, Limou S, Myung W, Winkler CA, Cho SK. Contribution of SLC22A12 on Hypouricemia and Its Clinical Significance for Screening Purposes. Sci Rep. 2019 Oct 7;9(1):14360. doi: 10.1038/s41598-019-50798-6.

47. Jung J, Lin H, Koh YI, Ryu K, Lee JS, Rim JH, Choi HJ, Lee HJ, Kim HY, Yu S, Jin H, Lee JH, Lee MG, Namkung W, Choi JY*, Gee HY*. Rare KCNQ4 Variants Found in Public Databases Underlie Impaired Channel Activity That May Contribute to Hearing Impairment. Exp Mol Med. 2019 Aug 21;51(8):1-12. doi: 10.1038/s12276-019-0300-9. (*co-correspondence)

46. Lee JH, Han K, Gee HY. The incidence rates and risk factors of Parkinson disease in patients with psoriasis: A nationwide population-based cohort study. J Am Acad Dermatol. 2020 Dec;83(6):1688-1695. doi: 10.1016/j.jaad.2019.07.012. Epub 2019 Jul 12.

45. Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D. Mutations in KIRREL1, a Slit Diaphragm Component, Cause Steroid-Resistant Nephrotic Syndrome. Kidney Int. 2019 Oct;96(4):883-889. doi: 10.1016/j.kint.2019.06.016

44. Nam GS*, Rim JH*, Choi JY, Gee HY, Choi JR, Lee ST, Jung J. The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report. BMC Med Genet. 2019 Apr 1;20(1):57. doi: 10.1186/s12881-019-0775-1.

43. Rim JH*, Lee JS*, Jung J, Lee JH, Lee ST, Choi JR, Choi JY, Lee MG, Gee HY. Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency. Sci Rep. 2019 Mar 14;9(1):4583. doi: 10.1038/s41598-019-41068-6.

42. Nandadasa S, Kraft CM, Wang LW, O’Donnell A, Patel R, Gee HY, Grobe K, Cox TC, Hildebrandt F, Apte SS. Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis. Nat Commun. 2019 Feb 27;10(1):953. doi: 10.1038/s41467-019-08520-7.

41. Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, Jobst-Schwan T, Ahmad M, Sayer JA, Gee HY, Halbritter J, Knöpfel T, Hernando N, Werner A, Wagner C, Khaliq S, Hildebrandt F. Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet. 2019 Mar;138(3):211-219. doi: 10.1007/s00439-019-01978-x.

40. Lee JM, Shin J, Kim S, Gee HY, Lee JS, Cha DH, Rim JH, Park SJ, Kim JH, Uçar A, Kronbichler A, Lee KH, Shin JI. Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review. Biomed Res Int. 2018 Nov 21;2018:1250721. doi: 10.1155/2018/1250721.

39. Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY*, Hildebrandt F*. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003. (*co-correspondence)

38. Shin DH#, Jung J#, Koh YI#, Rim JH, Lee JS, Choi HJ, Joo SY, Yu S, Cha DH, Lee SY, Lee JH, Lee MG, Choi JY*, Gee HY*. A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators. Hum Mutat. 2018 Dec 17. doi: 10.1002/humu.23698. (*co-correspondence)

37. Jung J#, Choi HB#, Koh YI#, Rim JH, Choi HJ, Kim SH, Lee JH, An J, Kim A, Lee JS, Joo SY, Yu S, Choi JY*, Kang TM*, Gee HY*. Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss. Sci Rep. 2018 Nov 9;8(1):16659. doi: 10.1038/s41598-018-34876-9. (*co-correspondence)

36. Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, Warejko JK, Fessi I, Rao J, Airik M, Gee HY, Schneider R, Widmeier E, Hermle T, Ashraf S, Jobst-Schwan T, van der Ven AT, Nakayama M, Shril S, Braun DA, Hildebrandt F. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant. 2018 Mar 21. doi: 10.1093/ndt/gfy050.

35. Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.  Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.  J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688.

34. Noh SH, Gee HY, Kim Y, Piao H, Kim J, Kang CM, Lee G, Mook-Jung I, Lee Y, Cho JW, Lee MG. Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR. Autophagy. 2018;14(10):1761-1778. doi: 10.1080/15548627.2018.1489479.

33. Kim J, Gee HY, Lee MG. Unconventional protein secretion – new insights into the pathogenesis and therapeutic targets of human diseases. J Cell Sci. 2018 Jun 25;131(12). pii: jcs213686. doi: 10.1242/jcs.213686.

32. Yu S#, Choi HJ#, Lee JS, Lee HJ, Rim JH, Choi JY, Gee HY*, Jung J*. A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction. Eur J Med Genet. 2018 May 22. pii: S1769-7212(17)30761-9. doi: 10.1016/j.ejmg.2018.05.018. (*co-correspondence)

31. Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w.

30. Cheon EJ#, Cha DH#, Cho SK, Noh HM, Park S, Kang SM, Gee HY*, Lee SH*. Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery. Atherosclerosis. 2018 Jun;273:21-27. doi: 10.1016/j.atherosclerosis./29674289 (*co-correspondence)

29. Rim JH, Chang MH, Oh J, Gee HY, Kim JH, Yoo J. Effects of Cold Agglutinin on the Accuracy of Complete Blood Count Results and Optimal Sample Pretreatment Protocols for Eliminating Such Effects. Ann Lab Med.  2018 Jul;38(4):371-374. doi: 10.3343/alm.2018.38.4.371.

28. Cho KJ, Noh SH, Han SM, Choi WI, Kim HY, Yu S, Lee JS, Rim JH, Lee MG, Hildebrandt F*, Gee HY*. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS Genet. 2018 Mar 30;14(3):e1007316. doi: 10.1371/journal.pgen.1007316. [Epub ahead of print] (*co-correspondence)

27. Gee HY, Kim J, Lee MG. Unconventional secretion of transmembrane proteins. Semin Cell Dev Biol. 2018 Mar 28. pii: S1084-9521(17)30101-5. doi: 10.1016/j.semcdb.2018.03.016. [Epub ahead of print]

26. Yang JW, Dettmar AK, Kronbichler A, Gee HY, Saleem M, Kim SH, Shin JI. Recent advances of animal model of focal segmental glomerulosclerosis. Clin Exp Nephrol. 2018 Mar 20. doi: 10.1007/s10157-018-1552-8. [Epub ahead of print]

25. Seo HM, Moon GT, Song YM, Gee HY, Park YM, Lee JY, Lee JH. Expression of YAP and TAZ in molluscum contagiosum virus infected skin. Br J Dermatol. 2018 Jan 12. doi: 10.1111/bjd.16333. [Epub ahead of print]

24. Choi HJ#, Lee JS#, Yu S, Cha DH, Gee HY, Choi JY, Lee JD, Jung J. Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.  BMC Med Genet. 2017 Dec 19;18(1):151. doi: 10.1186/s12881-017-0511-7. (# cofirst authors)

23. Rim JH, Lee ST, Gee HY, Lee BJ, Choi JR, Park HW, Han SH, Han J. Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome. JAMA Ophthalmol. 2017 Dec 1;135(12):1376-1385.

22. Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.  Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62

21. Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Fehér K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. J Clin Invest. 2017 Dec 1;127(12):4257-4269.

20. Kim I, Kang J, Gee HY, Park JW. A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma. Cell Biol Int. 2018 Mar;42(3):303-312.

19. Jun I, Park HS, Piao H, Han JW, An MJ, Yun BG, Zhang X, Cha YH, Shin YK, Yook JI, Jung J, Gee HY, Park JS, Yoon DS, Jeung HC, Lee MG. ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer. Br J Cancer. 2017 Dec 5;117(12):1798-1809. doi: 10.1038/bjc.2017.355.

18. Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, Shril S, Gee HY, Baum M, Daouk G, Ferguson MA, Rodig N, Somers MJG, Stein DR, Vivante A, Warejko JK, Widmeier E, Hildebrandt F. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Pediatr Nephrol. 2018 Feb;33(2):305-314.

17. Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025.

16. Jun I, Lee JS, Lee JH, Lee CS, Choi SI, Gee HY, Lee MG, Kim EK. Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. Sci Rep. 2017 Aug 22;7(1):9146. doi: 10.1038/s41598-017-09629-9.

15.  Nabhan MM, ElKhateeb N, Braun DA, Eun S, Saleem SN, Gee HY, Hildebrandt F, Soliman NA. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet A. 2017 Oct;173(10):2697-2702. doi: 10.1002/ajmg.a.38393.

14.  Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch’ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933.

13. Lee KH, Gee HY, Shin JI. Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. Investig Clin Urol. 2017 Jun;58(Suppl 1):S4-S13. doi: 10.4111/icu.2017.58.S1.S4. Epub 2017 Jun 7. Review.

12.  Rim JH, Youk T, Kang JG, Park BK, Gee HY, Kim JH, Yoo J. Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013). Sci Rep. 2017 Jun 5;7(1):2804. doi: 10.1038/s41598-017-03134-9

11. Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871.

10. Jung J#, Lee JS#, Cho KJ, Yu S, Yoon JH, Gee HY*, Choi JY*. Genetic Predisposition to Sporadic Congenital Hearing Loss in A Pediatric Population. Sci Rep. 2017 Apr 6;7:45973 (# cofirst authors, * co-correspondence)

9.  Lovric S*, Goncalves S*, Gee HY*, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.  Mutations in sphingosine-1-phosphase lyase cause nephrosis with ichthyosis and adrenal insufficiency.  J Clin Invest. 2017 Mar 1;127(3):912-928 (*equally contributed)

8. Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AE, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 Jan 5. pii: S0002-9297(16)30535-3. doi: 10.1016/j.ajhg.2016.12.011.

7. Oh CM, Chun S, Lee JE, Lee JS, Park S, Gee HY*, Kim SW*. A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults. Clin Genet. 2017 Jan 11. doi: 10.1111/cge.12966. (*co-correspondence)

6. Park HJ, Kim TH, Kim SW, Noh SH, Cho KJ, Choi C, Kwon EY, Choi YJ, Gee HY*, Choi JH*. Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. Sci Rep. 2016 Jun 3;6:26872. doi: 10.1038/srep26872. (*co-correspondence)

5. Gee HY*, Jun I*, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 Jun 2;98(6):1228-34. (*equally contributed)

4. Jung J, Kim J, Roh SH, Jun I, Sampson RD, Gee HY, Choi JY, Lee MG. The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion. Nat Commun. 2016 Apr 25;7:11386. doi: 10.1038/ncomms11386.

3. Gee HY*, Sadowski CE*, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, Ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commu. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822. (*equally contributed)

2.  Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr;48(4):457-65.

1.  Braun DA*, Lawson JA*, Gee HY*, Halbritter J, Shril S, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Fisher B, Spaneas L, Varner J, Sayer JA, Milosevic D, Baum M, Tasic V, Hildebrandt F. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. Clin J Am Soc Nephrol. 2016 Apr 7;11(4):664-72. (*equally contributed)