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Molecular Biology

D-Index
53
Citations
11698
World Ranking
2382
National Ranking
1180

Overview

Joy D. Cogan is affiliated with Vanderbilt University Medical Center in the United States. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with the majority of publications concentrated in genetics and molecular biology subfields, including Genetics, Molecular Biology, Pulmonary and Respiratory Medicine, Immunology, and Physiology.

The research topics covered by Joy D. Cogan include:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
  • Congenital heart defects research
  • RNA and protein synthesis mechanisms
  • RNA modifications and cancer

Joy D. Cogan has contributed to several recent papers in reputable journals. Notable examples include:

  • Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease, 2020, American Journal of Respiratory and Critical Care Medicine
  • Limitations of exome sequencing in detecting rare and undiagnosed diseases, 2020, American Journal of Medical Genetics Part A
  • De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation, 2020, The American Journal of Human Genetics
  • Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder, 2020, Brain
  • Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network, 2021, The American Journal of Human Genetics

Frequent collaborators in their work include Rizwan Hamid, Anna Bican, Devon Bonner, Gary Clark, and John A. Phillips. These coauthors have each contributed to a substantial number of joint publications, indicative of ongoing research partnerships.

Joy D. Cogan's publications are commonly found in a range of scientific journals. The most frequent venues of publication are:

  • Genetics in Medicine
  • American Journal of Medical Genetics Part A
  • bioRxiv (Cold Spring Harbor Laboratory)
  • American Journal of Respiratory and Critical Care Medicine
  • The American Journal of Human Genetics

Best Publications

  • Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis

    Mary Y. Armanios;Julian J.-L. Chen;Joy D. Cogan;Jonathan K. Alder

  • Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

    Tasha E. Fingerlin;Elissa Murphy;Weiming Zhang;Anna L. Peljto

  • Short telomeres are a risk factor for idiopathic pulmonary fibrosis

    Jonathan K. Alder;Julian J.L. Chen;Lisa Lancaster;Sonye Danoff

  • Mutations in PROP1 cause familial combined pituitary hormone deficiency

    Wei Wu;Joy D. Cogan;Roland W. Pfäffle;Jeremy S. Dasen

  • High Frequency of BMPR2 Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension

    Joy D. Cogan;Michael W. Pauciulo;Amy P. Batchman;Melissa A. Prince

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females.

    E. D. Austin;J. D. Cogan;J. D. West;L. K. Hedges

  • The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency*

    Joy D. Cogan;Wei Wu;John A. Phillips;Ivo J. P. Arnhold

  • Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency

    J A Phillips;J D Cogan

  • Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

    Lisa Bastarache;Jacob J. Hughey;Scott Hebbring;Joy Marlo

  • Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia

    Joy D. Cogan;Jonathan A. Kropski;Min Zhao;Daphne B. Mitchell

  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

    Julia Wang;Rami Al-Ouran;Yanhui Hu;Seon-Young Kim

  • Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

    Flavia Pernasetti;Sergio P. A. Toledo;Vyacheslav V. Vasilyev;Cesar Y. Hayashida

  • Inherited human cPLA2α deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction

    David H. Adler;Joy D. Cogan;John A. Phillips;Nathalie Schnetz-Boutaud

  • Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease

    Jonathan A. Kropski;Jason M. Pritchett;Donald F. Zoz;Donald F. Zoz;Peter F. Crossno;Peter F. Crossno

  • The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

    Rachel B. Ramoni;Rachel B. Ramoni;John J. Mulvihill;David R. Adams;Patrick Allard

  • Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension

    Joy D Cogan;Cindy L Vnencak-Jones;John A Phillips;Kirk B Lane

  • A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

    Jonathan A. Kropski;Daphne B. Mitchell;Cheryl Markin;Vasiliy V. Polosukhin

  • A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans

    Joy D. Cogan;Melissa A. Prince;Somsong Lekhakula;Sarah Bundey

  • Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance.

    James West;Joy Cogan;Mark Geraci;Linda Robinson

Frequent Co-Authors

John A. Phillips
John A. Phillips Vanderbilt University Medical Center
James E. Loyd
James E. Loyd Vanderbilt University Medical Center
John H. Newman
John H. Newman Vanderbilt University Medical Center
Timothy S. Blackwell
Timothy S. Blackwell University of Michigan–Ann Arbor
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Vandana Shashi
Vandana Shashi Duke University
William Lawson
William Lawson Stony Brook University
Hane Lee
Hane Lee University of California, Los Angeles
David Goldstein
David Goldstein University of New South Wales
Jennifer E. Posey
Jennifer E. Posey Baylor College of Medicine

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