J. Fielding Hejtmancik

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)¹

Daniel J. Klionsky, Amal Kamal Abdel‐Aziz, Sara Abdelfatah et al. · Autophagy · 2021 · 2.5K citations · Full text

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.

Jeffrey A. Towbin, J. Fielding Hejtmancik, Paul A. Brink et al. · Circulation · 1993 · 515 citations · Full text

Uniparental disomy as a mechanism for human genetic disease.

J. Edward Spence, R G Perciaccante, Gillian Greig et al. · PubMed · 1988 · 490 citations

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 322 citations · Full text

Mendelian Disorder, Ophthalmology, Null Mutations +4

Molecular Genetics of Human Blue Cone Monochromacy

Jeremy Nathans, Carol Davenport, Irene H. Maumenee et al. · Science · 1989 · 319 citations

Biology, Blue Cone Monochromacy, Red Pigment Gene +12