2017 - Curt Stern Award, American Society of Human Genetics
2012 - E. Mead Johnson Award, Society for Pediatric Research
Nicholas Katsanis mainly investigates Genetics, Cilium, Bardet–Biedl syndrome, Cell biology and Allele. His work on Genetics deals in particular with Ciliopathy, Ciliopathies, Locus, Gene and Genetic variation. The concepts of his Ciliopathy study are interwoven with issues in Mutation and Nephronophthisis.
His Cilium study combines topics from a wide range of disciplines, such as TMEM67, Ciliary transition zone, Endocrinology and Internal medicine. His Cell biology research is multidisciplinary, relying on both Centrosome, Basal body and Zebrafish. The various areas that Nicholas Katsanis examines in his Allele study include Phenotype, Receptor, Genome-wide association study and Genotype.
The scientist’s investigation covers issues in Genetics, Phenotype, Zebrafish, Cilium and Cell biology. His studies in Allele, Gene, Bardet–Biedl syndrome, Locus and Missense mutation are all subfields of Genetics research. His study in Bardet–Biedl syndrome is interdisciplinary in nature, drawing from both Polydactyly and Genetic heterogeneity.
Nicholas Katsanis has researched Phenotype in several fields, including Neuroscience and Microcephaly. His study focuses on the intersection of Zebrafish and fields such as Mutation with connections in the field of Molecular biology. Nicholas Katsanis interconnects Ciliopathies, Basal body, Ciliopathy and Intraflagellar transport in the investigation of issues within Cilium.
Nicholas Katsanis focuses on Genetics, Zebrafish, Phenotype, Exome sequencing and Gene. His work in Haploinsufficiency, Ciliopathy, Copy-number variation, Gene duplication and Nonsynonymous substitution are all subfields of Genetics research. Nicholas Katsanis has included themes like Polydactyly, Cilium, KIF3A, Retinitis pigmentosa and Allele in his Ciliopathy study.
His Cilium study improves the overall literature in Cell biology. His Zebrafish research includes themes of Point mutation and Craniofacial. His Gene course of study focuses on Computational biology and Expressivity and Pleiotropy.
His primary areas of study are Genetics, Zebrafish, Phenotype, Exome sequencing and Mutation. Genetics is represented through his KIF3A, Cilium, KIFAP3, Kinesin and Intraflagellar transport research. Nicholas Katsanis combines subjects such as Exome, Cas9, Microcephaly, Genome editing and Craniofacial with his study of Zebrafish.
His work deals with themes such as Gene duplication, Transcriptome and Copy-number variation, which intersect with Phenotype. His Exome sequencing research is multidisciplinary, incorporating perspectives in CRISPR, Guide RNA, Point mutation, Ciliopathy and Retinitis pigmentosa. His Mutation study integrates concerns from other disciplines, such as Hereditary Optic Atrophy, Atrophy and Mitochondrial DNA, Mitochondrial myopathy, Mitochondrial DNA replication.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Bart L Loeys;Junji Chen;Enid R Neptune;Daniel P Judge.
Nature Genetics (2005)
The Ciliopathies: An Emerging Class of Human Genetic Disorders
Jose L. Badano;Norimasa Mitsuma;Phil L. Beales;Nicholas Katsanis.
Annual Review of Genomics and Human Genetics (2006)
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche;Wilmar Igl;Jessica N.Cooke Bailey;Felix Grassmann.
Nature Genetics (2016)
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Menachem Fromer;Panos Roussos;Solveig K. Sieberts;Jessica S. Johnson.
Nature Neuroscience (2016)
Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
Jin Billy Li;Jantje M Gerdes;Courtney J Haycraft;Yanli Fan.
Cell (2004)
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
Stephen J. Ansley;Jose L. Badano;Oliver E. Blacque;Josephine Hill.
Nature (2003)
Seven new loci associated with age-related macular degeneration
Lars G. Fritsche;Lars G. Fritsche;Wei Chen;Wei Chen;Matthew Schu;Brian L. Yaspan.
Nature Genetics (2013)
The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
Jantje M. Gerdes;Erica E. Davis;Nicholas Katsanis.
Cell (2009)
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Nicholas Katsanis;Stephen J. Ansley;Jose L. Badano;Erica R. Eichers.
Science (2001)
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman.
Cell (2014)
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