PUBLICATIONS@YONSEI

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

19. 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

18. 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

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

 

 

 

 

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