Nicholas Katsanis

发表

Bridging the gap between monogenic and multifactorial disease: the Bardet-Biedl syndrome

Peter J. Scambler, Alison Ross, Pl Beales, 2003 .

An improved protocol for the analysis of Sod1 gene mutations: screening of UK ALS families.

J Collinge, Nicholas Katsanis, Emc Fisher, 1994 .

Adding to the transcription map of HSA21.

Emc Fisher, Nicholas Katsanis, 1997 .

cDNA selection from human chromosome 21.

Emc Fisher, Nicholas Katsanis, Ml Yaspo, 1995 .

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

Alexander Gusev, Bogdan Pasaniuc, Nicholas Mancuso, 2016, Nature Genetics.

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

Kang Zhang, Nicholas Katsanis, Donald J Zack, 2010, American journal of human genetics.

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

Kim C. Worley, Stephen J. Ansley, Nicholas Katsanis, 2002, Proceedings of the National Academy of Sciences of the United States of America.

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

Nicholas Katsanis, N. Katsanis, N. Zaghloul, 2009, The Journal of clinical investigation.

Interpreting human genetic variation with in vivo zebrafish assays.

Nicholas Katsanis, N. Katsanis, S. Frangakis, 2014, Biochimica et biophysica acta.

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

Margaret A. Pericak-Vance, Nirubol Tosakulwong, Emily Y. Chew, 2010, Proceedings of the National Academy of Sciences.

An Age-Old Problem

Nicholas Katsanis, N. Katsanis, S. Rosenberg, 2007, PLoS genetics.

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

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

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

Sivakumar Gowrisankar, Soumya Raychaudhuri, Mark J. Daly, 2013, Nature Genetics.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

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

Wolfram Kress, Julie De Backer, Jan Hellemans, 2005, Nature Genetics.

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

Adrian Gherman, Tanya M. Teslovich, Aravinda Chakravarti, 2007, PLoS genetics.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

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

Benjamin Neale, Alexander Gusev, Bogdan Pasaniuc, 2016 .

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

Joel Dudley, Kathryn Roeder, A. Ercument Cicek, 2016 .

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

Bethan E. Hoskins, Nicholas Katsanis, J. Lupski, 2004, Nature Genetics.

Managing Incidental Genomic Findings in Clinical Trials: Fulfillment of the Principle of Justice

Lisa S. Parker, Nicholas Katsanis, Rafael Dal-Ré, 2014, PLoS medicine.

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

Nicholas Katsanis, Natalie Afshari, S. Gregory, 2010, American journal of human genetics.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Makoto Nakamura, Paola Benaglio, Shinji Ueno, 2013, Proceedings of the National Academy of Sciences.

Molecular genetic testing and the future of clinical genomics

Nicholas Katsanis, Sara Huston Katsanis, N. Katsanis, 2013, Nature Reviews Genetics.

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

Adrian Gherman, Nicholas Katsanis, N. Katsanis, 2006, Nature Genetics.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.

The centrosome in human genetic disease

Tanya M. Teslovich, Jose L. Badano, Nicholas Katsanis, 2005, Nature Reviews Genetics.

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

Sivakumar Gowrisankar, Stephan Ripke, Soumya Raychaudhuri, 2011, Nature Genetics.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

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

Tanya M. Teslovich, Stephen J. Ansley, Bethan E. Hoskins, 2003, Nature.

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

Richard A. Lewis, Stephen J. Ansley, William S. Davidson, 2000, Nature Genetics.

Contactless, programmable acoustofluidic manipulation of objects on water.

Krishnendu Chakrabarty, Po-Hsun Huang, Zhanwei Zhong, 2019, Lab on a chip.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

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

Akira Sawa, Nicholas Katsanis, Kazunori Nakajima, 2008, Archives of general psychiatry.

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5

Olivier Lichtarge, Emidio Capriotti, Kivilcim Ozturk, 2019, Human mutation.

The ciliopathies: an emerging class of human genetic disorders.

Nicholas Katsanis, N. Katsanis, J. Badano, 2006, Annual review of genomics and human genetics.

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Carsten Bergmann, Colin A. Johnson, Klaus Zerres, 2011, American journal of human genetics.

Thermosensory and mechanosensory perception in human genetic disease.

Nicholas Katsanis, N. Katsanis, P. L. Tan, 2009, Human molecular genetics.