Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.
Zhu AY et al.
Ophthalmic Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Zazo-Seco C et al.
Journal of Human Genetics, 2020
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
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