Associated Papers
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
Patowary A et al.
Translational Psychiatry, 2019
30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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