@article {129,
	title = {CRB1-Related Maculopathy With Cystoid Macular Edema.},
	journal = {JAMA Ophthalmol},
	volume = {133},
	year = {2015},
	month = {2015 Nov},
	pages = {1357-60},
	keywords = {Administration, Topical, Carbonic Anhydrase Inhibitors, Child, Diseases in Twins, DNA Mutational Analysis, Electroretinography, Eye Proteins, Female, Fluorescein Angiography, Humans, Macular Edema, Membrane Proteins, Mutation, Nerve Tissue Proteins, Ophthalmic Solutions, Retinal Dystrophies, Sulfonamides, Thiophenes, Tomography, Optical Coherence, Twins, Monozygotic, Visual Acuity},
	issn = {2168-6173},
	doi = {10.1001/jamaophthalmol.2015.2814},
	author = {Wolfson, Yulia and Applegate, Carolyn D and Strauss, Rupert W and Han, Ian C and Scholl, Hendrik P}
}
@article {228,
	title = {Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.},
	journal = {Am J Hum Genet},
	volume = {95},
	year = {2014},
	month = {2014 Aug 07},
	pages = {227-34},
	abstract = {<p>Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystroglycanopathies. More recently, CDC was reported in seven children without neuromuscular involvement (Poretti-Boltshauser syndrome). Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome. Most of these individuals also have high myopia, and some have retinal dystrophy and patchy increased T2-weighted fluid-attenuated inversion recovery (T2/FLAIR) signal in cortical white matter. In one additional family, we identified two siblings who have truncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without cysts, indicating that cysts are not an obligate feature associated with loss of LAMA1 function. This work expands the phenotypic spectrum associated with the lamininopathy disorders and highlights the tissue-specific roles played by different laminin-encoding genes. </p>},
	keywords = {Adult, Alleles, Base Sequence, Cerebellar Cortex, Cerebellar Diseases, Child, Child, Preschool, Cysts, Exome, Female, Humans, Laminin, Male, Muscular Dystrophies, Retinal Dystrophies, Sequence Analysis, DNA, Young Adult},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2014.07.007},
	author = {Aldinger, Kimberly A and Mosca, Stephen J and T{\'e}treault, Martine and Dempsey, Jennifer C and Ishak, Gisele E and Hartley, Taila and Phelps, Ian G and Lamont, Ryan E and O{\textquoteright}Day, Diana R and Basel, Donald and Gripp, Karen W and Baker, Laura and Stephan, Mark J and Bernier, Francois P and Boycott, Kym M and Majewski, Jacek and Parboosingh, Jillian S and Innes, A Micheil and Doherty, Dan}
}
