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Nicholas Katsanis

Nicholas Katsanis

D-Index & Metrics

Genetics

D-Index
118
Citations
49963
World Ranking
414
National Ranking
214

Medicine

D-Index
118
Citations
50527
World Ranking
4064
National Ranking
2226

Research.com Recognitions

  • 2017 - Curt Stern Award, American Society of Human Genetics
  • 2012 - E. Mead Johnson Award, Society for Pediatric Research

Overview

Nicholas Katsanis is affiliated with Galatea Bio Inc in the United States. Their research encompasses various aspects of biochemistry, genetics, and molecular biology, with significant contributions in medicine. The primary fields of study include genetics, molecular biology, cell biology, pediatrics, perinatology and child health, and endocrinology, diabetes, and metabolism.

The main topics of work covered by Katsanis consist of:

  • Genetic and Kidney Cyst Diseases
  • Genomics and Rare Diseases
  • Genetic Associations and Epidemiology
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • Genetics and Neurodevelopmental Disorders
  • Hedgehog Signaling Pathway Studies

Katsanis has published extensively in several venues, frequently contributing to:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Communications
  • UNC Libraries
  • Human Genomics
  • The American Journal of Human Genetics

Coauthor collaborations feature prominently in Katsanis's work. Frequent coauthors include:

  • Erica E. Davis (19 publications)
  • Georgios Kellaris (8 publications)
  • Carlos D. Bustamante (7 publications)
  • Farid Ullah (6 publications)
  • Harrison Brand (6 publications)

Among the recent papers associated with Katsanis are:

  • "A cross-disorder dosage sensitivity map of the human genome," 2022, published in Cell
  • "Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits," 2020, published in Nature Neuroscience
  • "Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae," 2021, published in Nature Communications
  • "CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module," 2020, published in Nature Communications
  • "Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration," 2021, published in JAMA Ophthalmology

Nicholas Katsanis has been recognized with the following awards:

  • Curt Stern Award, American Society of Human Genetics (2017)
  • E. Mead Johnson Award, Society for Pediatric Research (2012)

Best Publications

  • 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

  • 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

  • The Ciliopathies: An Emerging Class of Human Genetic Disorders

    Jose L. Badano;Norimasa Mitsuma;Phil L. Beales;Nicholas Katsanis

  • Gene expression elucidates functional impact of polygenic risk for schizophrenia

    Menachem Fromer;Panos Roussos;Solveig K. Sieberts;Jessica S. Johnson

  • Seven new loci associated with age-related macular degeneration

    Lars G. Fritsche;Lars G. Fritsche;Wei Chen;Wei Chen;Matthew Schu;Brian L. Yaspan

  • Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman

  • 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

  • The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

    Jantje M. Gerdes;Erica E. Davis;Nicholas Katsanis

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

    Stephen J. Ansley;Jose L. Badano;Oliver E. Blacque;Josephine Hill

  • Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

    Nicholas Katsanis;Stephen J. Ansley;Jose L. Badano;Erica R. Eichers

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

    Francesc R Garcia-Gonzalo;Kevin C Corbit;María Salomé Sirerol-Piquer;Gokul Ramaswami

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

    Alison J Ross;Helen May-Simera;Erica R Eichers;Masatake Kai

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

    Wei Chen;Dwight Stambolian;Albert O. Edwards;Kari E. Branham

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

    Benjamin M. Neale;Jesen Fagerness;Jesen Fagerness;Robyn Reynolds;Lucia Sobrin

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

    Johanna M Seddon;Yi Yu;Elizabeth C Miller;Robyn Reynolds

  • Molecular genetic testing and the future of clinical genomics

    Sara Huston Katsanis;Nicholas Katsanis

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

    Jantje M Gerdes;Yangfan Liu;Norann A Zaghloul;Carmen C Leitch

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

    Jun Chul Kim;Jose L Badano;Sonja Sibold;Muneer A Esmail

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

    N Katsanis;SJ Ansley;JL Badano;ER Eichers

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

    A Ross;H May-Simera;E Eichers;M Kai

Frequent Co-Authors

Erica E. Davis
Erica E. Davis Lurie Children's Hospital
Philip L. Beales
Philip L. Beales University College London
James R. Lupski
James R. Lupski Baylor College of Medicine
Friedhelm Hildebrandt
Friedhelm Hildebrandt Boston Children's Hospital
Richard A. Lewis
Richard A. Lewis Baylor College of Medicine
Hélène Dollfus
Hélène Dollfus University of Strasbourg
Edgar A. Otto
Edgar A. Otto University of Michigan–Ann Arbor
Michel R. Leroux
Michel R. Leroux Simon Fraser University
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Donald J. Zack
Donald J. Zack Johns Hopkins University School of Medicine

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