Associated Papers
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM2_ESM.xlsx › Sheet1
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
Wieben ED et al.
Investigative Ophthalmology & Visual Science, 2019
31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 702.278
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
Zingg-Schenk A et al.
Pediatric Nephrology (berlin, Germany), 2012
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Waanders E et al.
Clinical Genetics, 2010
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
Waanders E et al.
Histochemistry and Cell Biology, 2008
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
Waanders E et al.
Human Mutation, 2006
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