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Ophthalmology|January 27, 2000
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclaseK Gregory-Evans, R E Kelsell, C Y Gregory-Evans, et al.
American Journal of Human Genetics|June 2, 2009
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1Dan Hanson, Philip G Murray, Amit Sud, et al.
Molecular Vision|March 20, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophyDonna S Mackay, Robert H Henderson, Panagiotis I Sergouniotis, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humansHuimin Wu, Jill A Cowing, Michel Michaelides, et al.
Investigative Ophthalmology & Visual Science|April 26, 2008
Phenotypic variation in enhanced S-cone syndromeIsabelle Audo, Michel Michaelides, Anthony G Robson, et al.
American Journal of Human Genetics|January 22, 2019
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild DysmorphismAsh Zawerton, Baojin Yao, J Paige Yeager, et al.
Diagnostic Microbiology and Infectious Disease|January 14, 2018
Challenges of Francisella classification exemplified by an atypical clinical isolateL M Matz, K Y Kamdar, M E Holder, et al.
American Journal of Ophthalmology|March 19, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlationsKaoru Fujinami, Noemi Lois, Alice E Davidson, et al.
Investigative Ophthalmology & Visual Science|May 10, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic studyArundhati Dev Borman, Louise A Ocaka, Donna S Mackay, et al.
JAMA Ophthalmology|June 4, 2016
Molecular and Clinical Findings in Patients With Knobloch SyndromeSarah Hull, Gavin Arno, Cristy A Ku, et al.
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