PUBLICATIONS@YONSEI

Please click here to see the full pulication lists of Heon Yung Gee.

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 May 7:ASN.2019070756. doi: 10.1681/ASN.2019070756. Online ahead of print. (*co-correspondence)
https://pubmed.ncbi.nlm.nih.gov/32381600/?from_term=gee+hy&from_sort=date&from_pos=1
Please also the editorial related to this paper
https://pubmed.ncbi.nlm.nih.gov/32381602/?from_term=mitochondria+matters&from_sort=date&from_pos=1

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.
https://pubmed.ncbi.nlm.nih.gov/32358544/?from_term=gee+hy&from_sort=date&from_pos=2

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.
https://pubmed.ncbi.nlm.nih.gov/32238860/?from_term=gee+hy&from_sort=pubdate&from_pos=1

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.
https://pubmed.ncbi.nlm.nih.gov/32234571/?from_term=gee+hy&from_sort=pubdate&from_pos=2

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.
https://pubmed.ncbi.nlm.nih.gov/32184397/?from_term=gee+hy&from_sort=pubdate&from_pos=3

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.
https://pubmed.ncbi.nlm.nih.gov/32183147/?from_term=gee+hy&from_sort=pubdate&from_pos=4

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)
https://pubmed.ncbi.nlm.nih.gov/31045651/?from_term=gee+hy&from_sort=pubdate&from_pos=5

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.
https://pubmed.ncbi.nlm.nih.gov/31591475/?from_term=gee+hy&from_sort=pubdate&from_pos=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)
https://pubmed.ncbi.nlm.nih.gov/31434872/?from_term=gee+hy&from_sort=pubdate&from_pos=7

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. 2019 Jul 12:S0190-9622(19)32367-9. doi: 10.1016/j.jaad.2019.07.012. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/31302182/?from_term=gee+hy&from_sort=pubdate&from_pos=8

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
https://pubmed.ncbi.nlm.nih.gov/31472902/?from_term=gee+hy&from_sort=pubdate&from_pos=9

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.
https://www.ncbi.nlm.nih.gov/pubmed/30935366

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.
https://www.ncbi.nlm.nih.gov/pubmed/30872718

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.
https://www.ncbi.nlm.nih.gov/pubmed/30814516

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.
https://www.ncbi.nlm.nih.gov/pubmed/30778725

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.
https://www.ncbi.nlm.nih.gov/pubmed/30584530

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)
https://www.ncbi.nlm.nih.gov/pubmed/30609407

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)
https://www.ncbi.nlm.nih.gov/pubmed/30556268

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)
https://www.ncbi.nlm.nih.gov/pubmed/30413759

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.
https://www.ncbi.nlm.nih.gov/pubmed/30295827

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.
https://www.ncbi.nlm.nih.gov/pubmed/30179222

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.
https://www.ncbi.nlm.nih.gov/pubmed/29969945

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.
https://www.ncbi.nlm.nih.gov/pubmed/29941450

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)
https://www.ncbi.nlm.nih.gov/pubmed/29800624

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.
https://www.ncbi.nlm.nih.gov/pubmed/29773874

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)
https://www.ncbi.nlm.nih.gov/pubmed/29674289

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.
https://www.ncbi.nlm.nih.gov/pubmed/29611389

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)
https://www.ncbi.nlm.nih.gov/pubmed/29601588

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]
https://www.ncbi.nlm.nih.gov/pubmed/29580969

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]
https://www.ncbi.nlm.nih.gov/pubmed/29556761

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]
https://www.ncbi.nlm.nih.gov/pubmed/29330849

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)
https://www.ncbi.nlm.nih.gov/pubmed/29258540

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.
https://www.ncbi.nlm.nih.gov/pubmed/29145603

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
https://www.ncbi.nlm.nih.gov/pubmed/29127259

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.
https://www.ncbi.nlm.nih.gov/pubmed/29058690

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.
https://www.ncbi.nlm.nih.gov/pubmed/29047187

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.
https://www.ncbi.nlm.nih.gov/pubmed/29024940

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.
https://www.ncbi.nlm.nih.gov/pubmed/28921387

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.
https://www.ncbi.nlm.nih.gov/pubmed/28893421

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.
https://www.ncbi.nlm.nih.gov/pubmed/28831140

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.
https://www.ncbi.nlm.nih.gov/pubmed/28815891

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.
https://www.ncbi.nlm.nih.gov/pubmed/28805828

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.
https://www.ncbi.nlm.nih.gov/pubmed/28612055

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
https://www.ncbi.nlm.nih.gov/pubmed/28584248

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.
https://www.ncbi.nlm.nih.gov/pubmed/28165339

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)
https://www.ncbi.nlm.nih.gov/pubmed/28383030

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)
https://www.ncbi.nlm.nih.gov/pubmed/28165339

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.
https://www.ncbi.nlm.nih.gov/pubmed/28089251

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)
https://www.ncbi.nlm.nih.gov/pubmed/28075027

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)
http://www.nature.com/articles/srep26872

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)
http://www.ncbi.nlm.nih.gov/pubmed/27210743

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.
http://www.ncbi.nlm.nih.gov/pubmed/27109633

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)
http://www.ncbi.nlm.nih.gov/pubmed/26905694

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.
http://www.ncbi.nlm.nih.gov/pubmed/26878725

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)
http://www.ncbi.nlm.nih.gov/pubmed/26787776