Concepedia

Carrie M Louie

CM

8

Publications

1.6K

Citations

8

H-Index

2004

Active since

Affiliations

University of California San Diego(Current)

Howard Hughes Medical Institute

University of California, Los Angeles

Casa Sollievo della Sofferenza

University of Chieti-Pescara

Carrie M Louie is an author at University of California San Diego specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

2004–2013

8

Publications

8

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 400 citations

, , +9

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh et al. · The American Journal of Human Genetics · 2004 · 289 citations · Full text

, , +9

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

, , +8

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Carrie M Louie, Gianluca Caridi, Vanda S. Lopes et al. · Nature Genetics · 2010 · 188 citations · Full text

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Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Madeline A. Lancaster, Carrie M Louie, Jennifer L. Silhavy et al. · Nature Medicine · 2009 · 169 citations · Full text

, , +11

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