J. Fielding Hejtmancik

National Institutes of Health — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

55h-index12.6kcitations281works2.82yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Connexins and lens biology(113), Retinal Development and Disorders(64), Retinal Diseases and Treatments(41), Intraocular Surgery and Lenses(23), RNA regulation and disease(23)

Publications279 total

Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases
2025Open Access
<i>ARR3</i>杂合变异所致视锥细胞嵌合状态改变视锥细胞亚型比例及其光电信号转导
动物学研究·2025Open Access
MITF promotes MFN2-dependent mitochondrial fusion to protect retinal pigment epithelial cells from mitochondrial damage
Free Radical Biology and Medicine·2025· 1 cited
DAPL1 inhibits epithelial-mesenchymal transition of retinal pigment epithelial cells by regulating the TGF-β/MITF pathway
Experimental Eye Research·2025· 1 cited
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes
Progress in Retinal and Eye Research·2025· 4 cited
List of Contributors
Elsevier eBooks·2024Open Access
Oxidative Stress in Genetic Cataract Formation
Antioxidants·2024· 6 citedOpen Access
Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma
Genes·2024Open Access
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
The American Journal of Human Genetics·2024· 5 citedOpen Access
Death associated protein like 1 acts as a novel tumor suppressor in melanoma by increasing the stability of P21 protein
Molecular and Cellular Biochemistry·2024· 3 citedOpen Access
Targeted lipidomics uncovers oxylipin perturbations and potential circulation biomarkers in Bietti’s crystalline dystrophy
Graefe s Archive for Clinical and Experimental Ophthalmology·2024· 1 cited
Clinical features of patients with mutations in genes for nanophthalmos
British Journal of Ophthalmology·2024· 4 cited
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
Journal of Translational Medicine·2024· 12 citedOpen Access
Bietti’s crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials
British Journal of Ophthalmology·2023· 6 citedOpen Access
Human γS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract
International Journal of Molecular Sciences·2023· 2 citedOpen Access
The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts
Biochemistry·2023· 4 citedOpen Access
Unique Haplotypes in <i>OPN1LW</i> as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
Investigative Ophthalmology & Visual Science·2023· 16 citedOpen Access
The Genetic Confirmation and Clinical Characterization of <i>LOXL3</i>-Associated MYP28: A Common Type of Recessive Extreme High Myopia
Investigative Ophthalmology & Visual Science·2023· 11 citedOpen Access
SIRT1 Inhibits High Glucose–Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation
Investigative Ophthalmology & Visual Science·2023· 58 citedOpen Access
CHARACTERIZATION OF MACULAR NEOVASCULARIZATION IN BIETTI CRYSTALLINE DYSTROPHY USING MULTIMODAL IMAGING MODALITIES
Retina·2023· 4 citedOpen Access
page 1 of 14Next →

Frequent Co-authors

Sheikh Riazuddin(13), Xiaodong Jiao(9), Alan Shiels(9), Yuri V. Sergeev(8), Qingjiong Zhang(6), Radha Ayyagari(6), Shaheen N. Khan(5), Muriel I. Kaiser‐Kupfer(5), Paul A. Sieving(5), Sheikh Riazuddin(4), Anren Li(4), Wenliang Yao(4), Xueshan Xiao(4), Tayyab Husnaın(4), Jeffrey A. Towbin(3), Francis L. Munier(3), Daniel F. Schorderet(3), Marc Kantorow(3), Fareeha Zulfiqar(3), Nizar Smaoui(3)