Mitophagy: An Emerging Target in Ocular PathologyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEIF4.72021-03-1641OAAI
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory ciliaJOURNAL OF CELL SCIENCEIF3.62019-01-0131OAAI
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segmentPLOS GENETICSIF3.72017-10-1961OAAI
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl SyndromeMOLECULAR THERAPYIF122017-04-0144OAAI
The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma MembranePLOS GENETICSIF3.72016-02-29105OAAI
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma (vol 121, pg 3542, 2011)JOURNAL OF CLINICAL INVESTIGATIONIF13.62015-08-0334OA
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein traffickingJOURNAL OF CELL SCIENCEIF3.62013-01-01124OAAI
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAIF9.12011-12-02131OAAI
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucomaJOURNAL OF CLINICAL INVESTIGATIONIF13.62011-09-01252OA
Inactivation of Bardet-Biedl syndrome genes causes kidney defectsAMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGYIF3.42011-02-0121OAAI
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneityGENETICS IN MEDICINEIF6.22010-10-0113OAAI
Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71AMERICAN JOURNAL OF HUMAN GENETICSIF8.12010-05-0166OAAI
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long IsoformPLOS GENETICSIF3.72010-03-1979OAAI
Bardet-Biedl Syndrome in Denmark-Report of 13 Novel Sequence Variations in Six GenesHUMAN MUTATIONIF3.72010-01-2970OAAI
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndromeJOURNAL OF CLINICAL INVESTIGATIONIF13.62008-04-01222OAAI
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAIF9.12008-03-04104OAAI
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAIF9.12007-12-04235OAAI
Gene expression analysis of photoreceptor cell loss in Bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damageINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEIF4.72007-07-0157PREAI