F. Hejtmancik

发表

A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma

M. C. Leske, N. Mendell, R. Agarwala, 2003, Human Genetics.

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

D. Schorderet, F. Munier, G. Klintworth, 2002, Human Genetics.

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

R. Yee, R. Frausto, D. Chung, 2016, PloS one.

Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis.

R. Nussenblatt, H. Sen, Baoying Liu, 2013, American journal of ophthalmology.

Mapping of genes and transcribed sequences in a gene rich 400-kb region on human chromosome 11p15.1→p14

L. H. Haley, R. Eddy, T. Shows, 2001, Cytogenetic and Genome Research.

Contig maps and genomic sequencing identify candidate genes in the usher 1C locus.

N. Nowak, P. D. de Jong, T. Shows, 1998, Genome research.

X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus

J. Towbin, B. Gelb, P. Brink, 1993, Circulation.

Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.

M. Trese, B. Shastry, F. Hejtmancik, 1999, Biochemical and biophysical research communications.

Linkage mapping of new X-linked juvenile retinoschisis kindreds using microsatellite markers.

M. Trese, B. Shastry, F. Hejtmancik, 1996, Biochemical and biophysical research communications.

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

I. MacDonald, S. Daiger, Xinjing Wang, 2011, Investigative ophthalmology & visual science.

Congenital and Hereditary Cataracts: Epidemiology and Genetics

M. Datiles, Nadav Shoshany, A. Shiels, 2020 .

A crystallin gene network in the mouse retina.

E. Geisert, Zhiwei Ma, Xiangdi Wang, 2013, Experimental eye research.

DMD carrier detection and prenatal diagnosis via recombinant DNA methods.

C. Caskey, P. Ward, F. Hejtmancik, 1988, Advances in neurology.

A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems

S. Mori, K. Broman, D. Goldman, 2016, PloS one.

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

Shaheen N. Khan, S. Riazuddin, J. Hejtmancik, 2016, Molecular vision.

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

I. MacDonald, S. Daiger, Xinjing Wang, 2011, Investigative ophthalmology & visual science.