Associated Papers
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
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
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Lim DH et al.
Human Mutation, 2010
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.
Hasumi Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Toro JR et al.
Journal of Medical Genetics, 2008
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
van Steensel MA et al.
The Journal of Investigative Dermatology, 2007
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