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 · 2.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9

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

Medicine, Genetics, Molecular Genetics +15

Uniparental disomy as a mechanism for human genetic disease.

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

Life Sciences, Genetics, Molecular Genetics +11

Molecular Genetics of Human Blue Cone Monochromacy

Jeremy Nathans, Carol Davenport, Irene H. Maumenee et al. · Science · 1989 · 326 citations

Medicine, Genetics, Molecular Genetics +15

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 325 citations · Full text

Medicine, Genetics, Ophthalmology +12