B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

(2010) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders

(2010) SS Sanders   CLINICAL GENETICS

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

(2010) E. A. Otto et al.   JOURNAL OF MEDICAL GENETICS

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

(2009) F Brancati et al.   CLINICAL GENETICS

The nonmotile ciliopathies

(2009) Jonathan L Tobin et al.   GENETICS IN MEDICINE

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

(2009) Rachaneekorn Tammachote et al.   HUMAN MOLECULAR GENETICS

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

(2009) Jonna Tallila et al.   HUMAN MUTATION

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

(2009) N. J. Bialas et al.   JOURNAL OF CELL SCIENCE

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

(2009) D. Doherty et al.   JOURNAL OF MEDICAL GENETICS

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

(2009) Sandro Rossetti et al.   KIDNEY INTERNATIONAL

Microdroplet-based PCR enrichment for large-scale targeted sequencing

(2009) Ryan Tewhey et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Droplet microfluidic technology for single-cell high-throughput screening

(2009) E. Brouzes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

(2008) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

(2008) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

(2008) Jonna Tallila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polycystic Kidney Disease

(2008) Peter C. Harris et al.   Annual Review of Medicine

CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease

(2008) William Y. Tsang et al.   DEVELOPMENTAL CELL

Assembly of primary cilia

(2008) Lotte B. Pedersen et al.   DEVELOPMENTAL DYNAMICS

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Functional Redundancy of the B9 Proteins and Nephrocystins in Caenorhabditis elegans Ciliogenesis

(2008) Corey L. Williams et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2008) Carmen C Leitch et al.   NATURE GENETICS

The stumpy gene is required for mammalian ciliogenesis

(2008) T. Town et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

(2007) Valeska Frank et al.   HUMAN MUTATION