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Investigative Ophthalmology & Visual Science|March 11, 2016
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy IndividualAvigail Beryozkin, Gal Levy, Anat Blumenfeld, et al.
Journal of Medical Genetics|November 8, 2015
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCNYonatan Perez, Rotem Kadir, Michael Volodarsky, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutationYonatan Perez, Libe Gradstein, Hagit Flusser, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Phenotypic variability and mutation hotspot in COX15-related Leigh syndromeDaniel Halperin, Max Drabkin, Ohad Wormser, et al.
Investigative Ophthalmology & Visual Science|April 27, 2007
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataractDavid Cohen, Udy Bar-Yosef, Jaime Levy, et al.
American Journal of Medical Genetics. Part A|August 24, 2023
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutationOfek Freund, Baker Elsana, Nadav Agam, et al.
Molecular Vision|September 26, 2007
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1pTariq Butt, Wenliang Yao, Haiba Kaul, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)Tamar Harel, Ronen Rabinowitz, Netta Hendler, et al.
Clinical Genetics|July 4, 2020
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathyOdeya David, Marina Eskin-Schwartz, Galina Ling, et al.
European Journal of Human Genetics : EJHG|November 13, 2014
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4ADina Fine, Hagit Flusser, Barak Markus, et al.
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