Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance

(2021) Oksana Tsyklauri et al.   EMBO REPORTS

Structure of the human BBSome core complex

(2020) Björn Udo Klink et al.   eLife

Cilia and polycystic kidney disease

(2020) Ming Ma   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Ciliary Genes in Renal Cystic Diseases

(2020) Anna Adamiok-Ostrowska et al.   Cells

Bardet‐Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome

(2020) Jeremy Pomeroy et al.   Pediatric Obesity

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

(2020) Maria Kousi et al.   NATURE GENETICS

Ciliopathies: Coloring outside of the lines

(2020) Alanna Strong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

(2019) Gabrielle Wheway et al.   Frontiers in Genetics

Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

(2019) Veronika Niederlova et al.   HUMAN MUTATION

The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population

(2018) Safa Mujahid et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Homozygous mutation inCEP19,a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

(2017) Esra Yıldız Bölükbaşı et al.   JOURNAL OF MEDICAL GENETICS

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

The cilium: a cellular antenna with an influence on obesity risk

(2016) Edwin C. M. Mariman et al.   BRITISH JOURNAL OF NUTRITION

Genetics of human Bardet-Biedl syndrome, an updates

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

Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome

(2016) J.J. Braun et al.   CLINICAL GENETICS

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

(2016) Elizabeth Forsythe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Renal transplantation in Bardet–Biedl Syndrome

(2016) Robert M. Haws et al.   PEDIATRIC NEPHROLOGY

Primary Cilia and Coordination of Receptor Tyrosine Kinase (RTK) and Transforming Growth Factor β (TGF-β) Signaling

(2016) Søren T. Christensen et al.   Cold Spring Harbor Perspectives in Biology

Ciliary subcompartments: how are they established and what are their functions?

(2015) Jeongmi Lee et al.   BMB Reports

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome

(2014) E. Forsythe et al.   CLINICAL GENETICS

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations inBBS1,BBS10andBBS12genes

(2014) M. Álvarez-Satta et al.   CLINICAL GENETICS

Leptin-promoted cilia assembly is critical for normal energy balance

(2014) Yu Mi Han et al.   JOURNAL OF CLINICAL INVESTIGATION

EVALUATION OF VISUAL FUNCTION AND NEEDS IN ADULT PATIENTS WITH BARDET–BIEDL SYNDROME

(2014) Alastair K. Denniston et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network

(2014) Benjamin P. Keith et al.   Frontiers in Genetics

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

(2013) O. M'hamdi et al.   CLINICAL GENETICS

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients withLZTFL1(BBS17) mutations

(2013) E. Schaefer et al.   CLINICAL GENETICS

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

(2012) Qihong Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

(2011) Maha S. Zaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A meckelin–filamin A interaction mediates ciliogenesis

(2011) Matthew Adams et al.   HUMAN MOLECULAR GENETICS

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

(2011) Catherine Deveault et al.   HUMAN MUTATION

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

(2011) A. Mockel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Molecular basis of the obesity associated with Bardet–Biedl syndrome

(2011) Deng-Fu Guo et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

High incidence of Bardet Biedl syndrome among the Bedouin

(2010) Talaat I. Farag et al.   CLINICAL GENETICS

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

(2010) O. Imhoff et al.   Clinical Journal of the American Society of Nephrology

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

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling

(2010) Cheryl J. Wiens et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

(2009) Magdalena Cardenas-Rodriguez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The BBSome

(2009) Hua Jin et al.   CURRENT BIOLOGY

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

(2008) T D. Hjortshoj et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

(2008) Tae Joo Park et al.   NATURE GENETICS