World's Best Scientists 2026 revealed!

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Genetics

D-Index
79
Citations
31997
World Ranking
1620
National Ranking
746

Medicine

D-Index
80
Citations
32909
World Ranking
16920
National Ranking
8487

Overview

Joseph T. Glessner is affiliated with the Children's Hospital of Philadelphia in the United States. Their research is primarily situated in the broad fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a specialized focus on Genetics, Molecular Biology, Surgery, Immunology, and Cancer Research.

The scientist's work covers multiple topics within genetics and related areas. These include:

  • Genomic variations and chromosomal abnormalities
  • Genomics and Rare Diseases
  • Genetic Associations and Epidemiology
  • Genetics and Neurodevelopmental Disorders
  • Pancreatic function and diabetes
  • Attention Deficit Hyperactivity Disorder
  • Autism Spectrum Disorder Research

Joseph T. Glessner has contributed extensively to scientific literature, with numerous recent papers published in high-profile journals. Selected recent publications include:

  • Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains, 2023, Nature Genetics
  • A cross-disorder dosage sensitivity map of the human genome, 2022, Cell
  • Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations, 2024, Nature Medicine
  • Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders, 2021, Translational Psychiatry
  • Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations, 2020, Nature Communications

Frequent collaborators in their work include:

  • Hákon Hákonarson
  • Hui-Qi Qu
  • Frank Mentch
  • Patrick Sleiman
  • Xiao Chang

Publication venues that have featured Joseph T. Glessner's research most frequently include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • UNC Libraries
  • Nature Communications
  • Circulation
  • Genetics in Medicine

The scope of their research reflects an interdisciplinary approach that integrates genetic epidemiology, molecular biology, and clinical genetics. This approach supports understanding of complex disease mechanisms across neurodevelopmental, metabolic, and rare disease contexts.

Best Publications

  • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

    Stephen Sawcer;Garrett Hellenthal;Matti Pirinen;Chris C. A. Spencer

  • Functional impact of global rare copy number variation in autism spectrum disorders

    Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

  • PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

    Kai Wang;Mingyao Li;Dexter Hadley;Rui Liu

  • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

    Joseph T. Glessner;Kai Wang;Guiqing Cai;Olena Korvatska

  • Common genetic variants on 5p14.1 associate with autism spectrum disorders

    Kai Wang;Haitao Zhang;Deqiong Ma;Maja Bucan

  • De novo mutations in histone-modifying genes in congenital heart disease

    Samir Zaidi;Murim Choi;Hiroko Wakimoto;Lijiang Ma

  • A genome-wide scan for common alleles affecting risk for autism

    Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan

  • A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

    Hakon Hakonarson;Struan F A Grant;Jonathan P. Bradfield;Luc Marchand

  • Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

    J. Elia;X. Gai;H. M. Xie;J. C. Perin

  • Common variants at five new loci associated with early-onset inflammatory bowel disease.

    Marcin Imielinski;Robert N. Baldassano;Anne Griffiths;Richard K. Russell

  • Common variants at 5q22 associate with pediatric eosinophilic esophagitis.

    Marc E. Rothenberg;Jonathan M. Spergel;Jonathan M. Spergel;Joseph D. Sherrill;Kiran Annaiah

  • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

    Maja Bucan;Brett S. Abrahams;Kai Wang;Joseph T. Glessner

  • Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

    Brendan J. Keating;Sam Tischfield;Sam Tischfield;Sarah S. Murray;Tushar Bhangale

  • Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

    Josephine Elia;Joseph T. Glessner;Kai Wang;Nagahide Takahashi

  • Copy number variation at 1q21.1 associated with neuroblastoma

    Sharon J. Diskin;Cuiping Hou;Joseph T. Glessner;Edward F. Attiyeh;Edward F. Attiyeh

  • Individual common variants exert weak effects on the risk for autism spectrum disorders.

    Richard Anney;Lambertus Klei;Dalila Pinto;Dalila Pinto;Joana Almeida

  • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

    Tamim H. Shaikh;Xiaowu Gai;Juan C. Perin;Joseph T. Glessner

  • Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

    Subra Kugathasan;Robert N Baldassano;Jonathan P Bradfield;Patrick M A Sleiman

  • Variants of DENND1B Associated with Asthma in Children

    Patrick M. A. Sleiman;James Flory;Marcin Imielinski;Jonathan P. Bradfield

  • Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

    Sharon J. Diskin;Mingyao Li;Cuiping Hou;Shuzhang Yang

Frequent Co-Authors

Hakon Hakonarson
Hakon Hakonarson Children's Hospital of Philadelphia
Struan F.A. Grant
Struan F.A. Grant University of Pennsylvania
Patrick M.A. Sleiman
Patrick M.A. Sleiman Children's Hospital of Philadelphia
Jonathan P. Bradfield
Jonathan P. Bradfield Children's Hospital of Philadelphia
Rosetta M. Chiavacci
Rosetta M. Chiavacci Children's Hospital of Philadelphia
Mingyao Li
Mingyao Li University of Pennsylvania
Marcin Imielinski
Marcin Imielinski Cornell University
Marcella Devoto
Marcella Devoto University of Pennsylvania
Brendan J. Keating
Brendan J. Keating University of Pennsylvania
Joseph D. Buxbaum
Joseph D. Buxbaum Icahn School of Medicine at Mount Sinai

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