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Genetics

D-Index
106
Citations
35766
World Ranking
608
National Ranking
306

Medicine

D-Index
105
Citations
36292
World Ranking
6824
National Ranking
3602

Overview

Joseph G. Gleeson is affiliated with the University of California, San Diego in the United States. Their research primarily focuses on biochemistry, genetics, and molecular biology, with a notable emphasis on genetics and molecular biology within this broad field.

Their work covers a range of subfields, including genetics, molecular biology, cell biology, cancer research, and pediatrics, perinatology, and child health. Gleeson's research topics frequently involve genomics and rare diseases, genetics and neurodevelopmental disorders, genomic variations and chromosomal abnormalities, RNA and protein synthesis mechanisms, RNA modifications and cancer, cancer genomics and diagnostics, and fetal and pediatric neurological disorders.

Joseph G. Gleeson has published extensively, with frequent appearances in several key scientific venues. The most common publication venues include:

  • The American Journal of Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Genetics
  • Brain
  • European Journal of Human Genetics

Some of Gleeson's recent notable papers include:

  • "A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex," 2022, Nature Genetics
  • "The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing," 2021, Nature Neuroscience
  • "Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development," 2023, Nature Genetics
  • "Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function," 2020, Brain
  • "Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability," 2022, Science

Frequent collaborators in their research include:

  • Maha S. Zaki
  • Henry Houlden
  • Reza Maroofian
  • Christopher A. Walsh
  • Yanmei Dou

Best Publications

  • Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons.

    Joseph G Gleeson;Joseph G Gleeson;Peter T Lin;Lisa A Flanagan;Christopher A Walsh

  • doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

    Joseph G Gleeson;Joseph G Gleeson;Kristina M Allen;Jeremy W Fox;Edward D Lamperti

  • De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

    Jeong Ho Lee;My Huynh;Jennifer L Silhavy;Jennifer L Silhavy;Sangwoo Kim

  • Aberrant methylation of tRNAs links cellular stress to neuro‐developmental disorders

    Sandra Blanco;Sabine Dietmann;Joana V Flores;Shobbir Hussain

  • Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

    Gaia Novarino;Ali G. Fenstermaker;Maha S. Zaki;Matan Hofree

  • PAK3 mutation in nonsyndromic X-linked mental retardation

    Kristina M. Allen;Joseph G. Gleeson;Joseph G. Gleeson;Shubha Bagrodia;Michael W. Partington

  • Functional genomic screen for modulators of ciliogenesis and cilium length

    Joon Kim;Ji Eun Lee;Susanne Heynen-Genel;Eigo Suyama

  • Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

    Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano

  • NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs

    Shobbir Hussain;Abdulrahim A. Sajini;Sandra Blanco;Sabine Dietmann

  • Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

    Teruyuki Tanaka;Finley F. Serneo;Christine Higgins;Michael J. Gambello

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

    Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  • Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  • Nucleokinesis in Neuronal Migration

    Li-Huei Tsai;Joseph G. Gleeson

  • Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning.

    Tianzhi Shu;Ramses Ayala;Minh-Dang Nguyen;Zhigang Xie

  • TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

    Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

    Eric M Scott;Anason Halees;Yuval Itan;Emily G Spencer;Emily G Spencer;Emily G Spencer

  • Neuronal migration disorders: from genetic diseases to developmental mechanisms

    Joseph G Gleeson;Christopher A Walsh

  • LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

    Daniela T. Pilz;Naomichi Matsumoto;Sharon Minnerath;Patti Mills

  • CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

    Joon Kim;Suguna Rani Krishnaswami;Joseph G. Gleeson

Frequent Co-Authors

Maha S. Zaki
Maha S. Zaki National Research Centre, Egypt
William B. Dobyns
William B. Dobyns University of Minnesota
Enza Maria Valente
Enza Maria Valente University of Pavia
Hülya Kayserili
Hülya Kayserili Koç University
Christopher A. Walsh
Christopher A. Walsh Howard Hughes Medical Institute
Francesco Brancati
Francesco Brancati University of L'Aquila
Stacey Gabriel
Stacey Gabriel Broad Institute
Lihadh Al-Gazali
Lihadh Al-Gazali United Arab Emirates University
Friedhelm Hildebrandt
Friedhelm Hildebrandt Boston Children's Hospital
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital

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