Nathan E. Hellman

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 489 citations

Cerebello-oculo-renal Syndrome, Ciliary Gene Rpgrip1l, Developmental Biology +9

A modified tetracycline-regulated system provides autoregulatory, inducible gene expression in cultured cells and transgenic mice.

Penny E. Shockett, Michael J. Difilippantonio, Nathan E. Hellman et al. · Proceedings of the National Academy of Sciences · 1995 · 380 citations · Full text

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Jennifer R. Panizzi, Anita Becker-Heck, Victoria Castleman et al. · Nature Genetics · 2012 · 249 citations

Medicine, Pathology, Ciliary Dynein Arms +4

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Christina Austin‐Tse, Jan Halbritter, Maimoona A. Zariwala et al. · The American Journal of Human Genetics · 2013 · 197 citations · Full text

Pathology, Degenerative Disease, Neurology +4

Mechanisms of Copper Incorporation into Human Ceruloplasmin

Nathan E. Hellman, Satoshi Kono, Grazia M.S. Mancini et al. · Journal of Biological Chemistry · 2002 · 162 citations · Full text