Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome

The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology

(2017) Eugene J. Gardner et al.   GENOME RESEARCH

Mobile DNA in Health and Disease

(2017) Haig H. Kazazian et al.   NEW ENGLAND JOURNAL OF MEDICINE

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

(2016) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of human Bardet-Biedl syndrome, an updates

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

Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin‐binding IFT‐B2 complex

(2016) Michael Taschner et al.   EMBO JOURNAL

Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)

(2016) Elise Heon et al.   HUMAN MOLECULAR GENETICS

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome

(2015) E. N. Kerr et al.   CLINICAL GENETICS

Transposable element polymorphisms recapitulate human evolution

(2015) Lavanya Rishishwar et al.   Mobile DNA

Transposable element detection from whole genome sequence data

(2015) Adam D. Ewing   Mobile DNA

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

(2015) Kinga M. Bujakowska et al.   PLoS One

An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers

(2014) Louise M. Downs et al.   PLoS One

Retroelements in human disease

(2013) Kristel Kaer et al.   GENE

Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

(2013) Rebecca R. Bellone et al.   PLoS One

Genotype-Phenotype Correlations in Bardet-Biedl Syndrome

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

Mobile elements in the human genome: implications for disease

(2012) Szilvia Solyom et al.   Genome Medicine

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

(2011) Catherine Deveault et al.   HUMAN MUTATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

BBS Mutational Analysis: A Strategic Approach

(2011) Gail Billingsley et al.   OPHTHALMIC GENETICS

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

(2011) B. A. Tucker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

(2010) G. Billingsley et al.   JOURNAL OF MEDICAL GENETICS

Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

(2007) Christina Gerth et al.   VISION RESEARCH