Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA

(2017) Jennifer Reiner et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genetics of human Bardet-Biedl syndrome, an updates

(2016) S.A. Khan et al.   CLINICAL GENETICS

Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6

(2015) Wanqiong Qiao et al.   HUMAN MUTATION

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype-Phenotype Correlations in Bardet-Biedl Syndrome

(2012) Anthony B. Daniels et al.   ARCHIVES OF OPHTHALMOLOGY

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

(2012) Shobi Veleri et al.   PLoS One

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization

(2010) Stuart A Scott et al.   GENETICS IN MEDICINE

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

(2010) Jean Muller et al.   HUMAN GENETICS

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

(2010) Tina Duelund Hjortshøj et al.   HUMAN MUTATION

Founder Mutations in the Lipase H Gene in Families with Autosomal Recessive Woolly Hair/Hypotrichosis

(2009) Yutaka Shimomura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS