1. 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;6:26872.
(*co-corresponding)
2. 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;92(3):344-346.
(*co-corresponding)
3. 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;7:45973.
(*co-corresponding)
4. 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;14(3):e1007316.
(*co-corresponding)
5. 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;273:21-27. (*co-corresponding)
6. 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. pii: S1769-7212(17)30761-9.
(*co-corresponding)
7. 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;9;8(1):16659.
(*co-corresponding)
8. 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. doi: 10.1002/humu.23698.
(*co-corresponding)
9. Choi YJ, Halbritter J, Braun DA, Schueler
M, Schapiro D, Rim JH, Nandadasa S, Choi
WI, Widmeier E, Shril S, Korber 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;104(1):45-54. (*co-corresponding)
Full Publication Lists http://www.ncbi.nlm.nih.gov/pubmed/?term=gee+hy+AND+Heon+Yung+Gee
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