Daniel Doherty

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit et al. · Cell · 2011 · 617 citations · Full text

Molecular Neuroscience, Disease Mechanism, Glioma +7

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki et al. · Nature Genetics · 2012 · 188 citations

Mendelian Disorder, Joubert Syndrome, Genetic Disorder +8

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah Fleming, Daniel Doherty, Melissa A. Parisi et al. · Clinical Journal of the American Society of Nephrology · 2017 · 74 citations · Full text

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9