Nicholas Katsanis

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Beyond Mendel: an evolving view of human genetic disease transmission.

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

The oligogenic properties of Bardet-Biedl syndrome.

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

Triallelic inheritance: a bridge between Mendelian and multifactorial traits.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

The centrosome in human genetic disease.

A manually curated functional annotation of the human X chromosome.

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

Small molecule intervention in microtubule-associated human disease.

Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Ciliary proteins and exencephaly.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

The ciliopathies: an emerging class of human genetic disorders.

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Life without centrioles: cilia in the spotlight.

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle.

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

An age-old problem.

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?

Cell polarization defects in early heart development.

Population bottlenecks as a potential major shaping force of human genome architecture.

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.

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

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.

Ciliary function and Wnt signal modulation.

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

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

From association to causality: the new frontier for complex traits.

The vertebrate primary cilium in development, homeostasis, and disease.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

Thermosensory and mechanosensory perception in human genetic disease.

Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.

Functional modules, mutational load and human genetic disease.

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

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

Pitchfork regulates primary cilia disassembly and left-right asymmetry.

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

Age-severity relationships in families linked to FCD2 with retroillumination photography.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry.

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.

Ciliopathies.

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting.

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Understanding cargo specificity in intraflagellar transport.

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Neuroscience: Imprinting in the brain.

Zebrafish assays of ciliopathies.

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

Ectopic overexpression of Sonic Hedgehog (Shh) induces stromal expansion and metaplasia in the adult murine pancreas.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Cilia in vertebrate development and disease.

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.

Prevalence and severity of fuchs corneal dystrophy in Tangier Island.

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

The ciliopathies: a transitional model into systems biology of human genetic disease.

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells.

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

Context-dependent regulation of Wnt signaling through the primary cilium.

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Seven new loci associated with age-related macular degeneration.

Next-generation sequencing of the human olfactory receptors.

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Mutations in LRRC50 predispose zebrafish and humans to seminomas.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Molecular genetic testing and the future of clinical genomics.

A functional variant in the CFI gene confers a high risk of age-related macular degeneration.

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.

Genetic architecture of reciprocal CNVs.

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry.