Associated Papers
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N et al.
European Journal of Human Genetics : Ejhg, 2019
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG et al.
Journal of Medical Genetics, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar MB et al.
Human Genetics, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R et al.
Human Mutation, 2007
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