Associated Papers
Genome sequencing in congenital cataracts improves diagnostic yield.
Ma A et al.
Human Mutation, 2021
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
30859180 (PubMed )
Supplement: awz024_supplementary_text.pdf
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.
Jeanne M et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2017
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.
Smigiel R et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2016
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
Deml B et al.
Clinical Genetics, 2014
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