Katsanis, Nicholas

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

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 1,544

Ciliopathies

Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 1,331

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 1,144

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Fromer, M., Roussos, P., Sieberts, S. K., Johnson, J. S., Kavanagh, D. H., Perumal, T. M., Ruderfer, D. M., Oh, E. C., Topol, A., Shah, H. R., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 1,091

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A. T., et al. (2014) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 798

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

Chen, W., Stambolian, D., Edwards, A. O., Branham, K. E., Othman, M., Jakobsdottir, J., Tosakulwong, N., Pericak-Vance, M. A., Campochiaro, P. A., Klein, M. L., et al. (2010) · Proceedings of the National Academy of Sciences

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 506

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Gusev, A., Mancuso, N., Won, H., Kousi, M., Finucane, H. K., Reshef, Y., Song, L., Safi, A., Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll, S., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 491

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

Neale, B. M., Fagerness, J., Reynolds, R., Sobrin, L., Parker, M., Raychaudhuri, S., Tan, P. L., Oh, E. C., Merriam, J. E., Souied, E., et al. (2010) · Proceedings of the National Academy of Sciences

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 442

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

Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 410

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

Gerdes, J. M., Liu, Y., Zaghloul, N. A., Leitch, C. C., Lawson, S. S., Kato, M., Beachy, P. A., Beales, P. L., DeMartino, G. N., Fisher, S., et al. (2007) · Nature Genetics

Genetic and Kidney Cyst DiseasesWnt/β-catenin signaling in development and cancer

Cited by 399

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 370

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

Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., et al. (2014) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 342

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

Raychaudhuri, S., Iartchouk, O., Chin, K., Tan, P. L., Tai, A. K., Ripke, S., Gowrisankar, S., Vemuri, S., Montgomery, K., Yu, Y., et al. (2011) · Nature Genetics

Retinal Diseases and TreatmentsComplement system in diseases

Cited by 323

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

Kelly, E., Meng, F., Fujita, H., Morgado, F., Kazemi, Y., Rice, L. C., Ren, C., Escamilla, C. O., Gibson, J. M., Sajadi, S., et al. (2020) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 280

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

Yu, Y., Bhangale, T. R., Fagerness, J., Ripke, S., Thorleifsson, G., Tan, P. L., Souied, E. H., Richardson, A. J., Merriam, J. E., Buitendijk, G. H. S., et al. (2011) · Human Molecular Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 254

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Toll-like Receptor 3 and Geographic Atrophy in Age-Related Macular Degeneration

Yang, Z., Stratton, C., Francis, P. J., Kleinman, M. E., Tan, P. L., Gibbs, D., Tong, Z., Chen, H., Constantine, R., Yang, X., et al. (2008) · New England Journal of Medicine

Retinal Diseases and TreatmentsRetinal Development and Disorders

Cited by 222

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

Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 194

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Reijnders, M. R. F., Ansor, N. M., Kousi, M., Yue, W. W., Tan, P. L., Clarkson, K., Clayton-Smith, J., Corning, K., Jones, J. R., Lam, W. W. K., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 168

Identification of cis-suppression of human disease mutations by comparative genomics

Task Force for Neonatal Genomics, Jordan, D. M., Frangakis, S. G., Golzio, C., Cassa, C. A., Kurtzberg, J., Davis, E. E., Sunyaev, S. R., & Katsanis, N. (2015) · Nature

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 115

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 110

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Dougherty, G. W., Mizuno, K., Nöthe-Menchen, T., Ikawa, Y., Boldt, K., Ta-Shma, A., Aprea, I., Minegishi, K., Pang, Y.-P., Pennekamp, P., et al. (2020) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 88

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Balasubramanian, R., Choi, J.-H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., Stankovic, K. M., Plummer, L., Buck, C. L., Quinton, R., et al. (2014) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesCongenital Ear and Nasal Anomalies

Cited by 83

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., et al. (2017) · Nature Communications

Genetics and Neurodevelopmental DisordersPI3K/AKT/mTOR signaling in cancer

Cited by 76