Associated Papers
Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms.
Bakker MK et al.
European Journal of Human Genetics : Ejhg, 2022
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.
Cossu C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
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