Associated Papers
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Mohren L et al.
Nature Communications, 2024
39227614 (PubMed )
Supplement: 41467_2024_52148_MOESM1_ESM.pdf
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Leggatt G et al.
Scientific Reports, 2023
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_10
Whole-exome sequencing in fetuses with central nervous system abnormalities.
Reches A et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2018
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