ZFIN Person: Hejtmancik, J. Fielding

ZFIN ID: ZDB-PERS-101229-6

ZFIN ID: ZDB-PERS-101229-6

Hejtmancik, J. Fielding

Email:	f3h@helix.nih.gov
URL:	http://www.nei.nih.gov/intramural/OGVFB/omg.asp
Affiliation:	Hejtmancik Lab
Address:	MOGS/OGVFB/NEI/NIH 5635 Fisher's Lane RM 1127 Rockville, MD 20852 USA
Country:
Phone:	301-496-8300
Fax:	301-435-1598
ORCID ID:

BIOGRAPHY AND RESEARCH INTERESTS

Medical Officer and Chief, Molecular Genetic Ophthalmology Section, OGVFB, NEI, NIH

EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, and include postdoctoral training.)
INSTITUTION AND LOCATION DEGREE
YEAR(s) FIELD OF STUDY
Rice University B.A. 1970-1979 Biochemistry
Baylor College of Medicine Ph.D. 1973-1976 Cell Biology
Baylor College of Medicine M.D. 1973-1978 Medicine
Duke University Medical Center -- 1980-1981 Internal Medicine
National Eye Institute -- 1981-1983 Molecular Biology
Baylor College of Medicine -- 1984-1987 Medical Genetics

PUBLICATIONS

Ma, Y., Wang, X., Shoshany, N., Jiao, X., Lee, A., Ku, G., Baple, E.L., Fasham, J., Nadeem, R., Naeem, M.A., Riazuddin, S., Riazuddin, S.A., Crosby, A.H., Hejtmancik, J.F. (2022) CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago. Frontiers in genetics. 13:804924

Deveau, C., Jiao, X., Suzuki, S.C., Krishnakumar, A., Yoshimatsu, T., Hejtmancik, J.F., Nelson, R.F. (2020) Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish). PLoS Genetics. 16:e1008869

Xiao, X., Sun, W., Ouyang, J., Li, S., Jia, X., Tan, Z., Hejtmancik, J.F., Zhang, Q. (2019) Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3. Human genetics. 138(10):1077-1090

Li, L., Jiao, X., D'Atri, I., Ono, F., Nelson, R., Chan, C.C., Nakaya, N., Ma, Z., Ma, Y., Cai, X., Zhang, L., Lin, S., Hameed, A., Chioza, B.A., Hardy, H., Arno, G., Hull, S., Khan, M.I., Fasham, J., Harlalka, G.V., Michaelides, M., Moore, A.T., Coban Akdemir, Z.H., Jhangiani, S., Lupski, J.R., Cremers, F.P.M., Qamar, R., Salman, A., Chilton, J., Self, J., Ayyagari, R., Kabir, F., Naeem, M.A., Ali, M., Akram, J., Sieving, P.A., Riazuddin, S., Baple, E.L., Riazuddin, S.A., Crosby, A.H., Hejtmancik, J.F. (2018) Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genetics. 14:e1007504

Biswas, P., Chavali, V.R., Agnello, G., Stone, E., Chakarova, C., Duncan, J.L., Kannabiran, C., Homsher, M., Bhattacharya, S.S., Naeem, M.A., Kimchi, A., Sharon, D., Iwata, T., Riazuddin, S., Reddy, G.B., Hejtmancik, J.F., Gerogiou, G., Riazuddin, S.A., Ayyagari, R. (2016) A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Human molecular genetics. 25(12):2483-2497

Khan, S.Y., Vasanth, S., Kabir, F., Gottsch, J.D., Khan, A.O., Chaerkady, R., Lee, M.W., Leitch, C.C., Ma, Z., Laux, J., Villasmil, R., Khan, S.N., Riazuddin, S., Akram, J., Cole, R.N., Talbot, C.C., Pourmand, N., Zaghloul, N.A., Hejtmancik, J.F., Riazuddin, S.A. (2016) FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nature communications. 7:10953

Posner, M., Kiss, A.J., Skiba, J., Drossman, A., Dolinska, M.B., Hejtmancik, J.F., and Sergeev, Y.V. (2012) Functional Validation of Hydrophobic Adaptation to Physiological Temperature in the Small Heat Shock Protein alphaA-crystallin. PLoS One. 7(3):e34438

NON-ZEBRAFISH PUBLICATIONS