List of works - Nicholas Katsanis

The Ciliopathies: An Emerging Class of Human Genetic Disorders

scientific article

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

scientific article (publication date: March 2005)

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

scientific journal article

Seven new loci associated with age-related macular degeneration

scientific article

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

scientific article

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

scientific journal article

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

scientific article

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

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

scientific article (2010)

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

scientific article (publication date: November 2007)

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

scientific article

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

scientific article

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

scientific article (publication date: April 2008)

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

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

scientific article

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

scientific article published on 02 March 2009

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

scientific article

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

scientific article

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

scientific journal article

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

scientific article

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

scientific article

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

scientific article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 October 2011

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

scientific article

Beyond Mendel: an evolving view of human genetic disease transmission

scientific article

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

scientific article

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

scientific article

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

scientific article

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

scientific article published on 15 September 2013

Molecular genetic testing and the future of clinical genomics

scientific article published on June 1, 2013

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

scientific article

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

scientific journal article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

The centrosome in human genetic disease

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 27 August 2008

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

scientific article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

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

scientific article

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

scientific article

List of works by Nicholas Katsanis

The Ciliopathies: An Emerging Class of Human Genetic Disorders

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

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

Seven new loci associated with age-related macular degeneration

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

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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

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

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

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

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

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

Disruptive CHD8 mutations define a subtype of autism early in development

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

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

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

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

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

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

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

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

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

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

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

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

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

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Beyond Mendel: an evolving view of human genetic disease transmission

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

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

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

Molecular genetic testing and the future of clinical genomics

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

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

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

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

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

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

The centrosome in human genetic disease

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

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

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

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

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

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors