Associated Papers
Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.
Melluso A et al.
Therapeutics and Clinical Risk Management, 2023
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Developing ABEmax-NG with Precise Targeting and Expanded Editing Scope to Model Pathogenic Splice Site Mutations In Vivo.
Huang S et al.
Iscience, 2019
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 2015
An estimate of the average number of recessive lethal mutations carried by humans.
Gao Z et al.
Genetics, 2015
Update on the genetics of bardet-biedl syndrome.
M'hamdi O et al.
Molecular Syndromology, 2014
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX et al.
American Journal of Human Genetics, 2012
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
Innes AM et al.
Clinical Genetics, 2010
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Harville HM et al.
Journal of Medical Genetics, 2010
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 0
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