Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P1-dominant
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.
Plos Genetics, 2022
35353811 (PubMed )
Supplement: pgen.1010129.s001.xlsx › Sheet1
Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Verdina T et al.
Molecular Vision, 2021
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I et al.
Biomed Research International, 2016
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice.
Sato H et al.
Molecular Vision, 2010
Putative association of a mutant ROM1 allele with retinitis pigmentosa.
Martínez-Mir A et al.
Human Genetics, 1997
Mutation analysis of the ROM1 gene in retinitis pigmentosa.
Bascom RA et al.
Human Molecular Genetics, 1995
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