Associated Papers
The genetics and disease mechanisms of rhegmatogenous retinal detachment.
Govers BM et al.
Progress in Retinal and Eye Research, 2023
Identification of Regulatory Molecular "Hot Spots" for LH/PLOD Collagen Glycosyltransferase Activity.
Mattoteia D et al.
International Journal of Molecular Sciences, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ et al.
Journal of Medical Genetics, 2019
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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