Joy Cogan

Research Professor

Vanderbilt University School of Medicine

United States

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About

Joy Cogan is a Research Professor at Vanderbilt University School of Medicine in the United States. Her research focuses on genetic diseases, particularly in the areas of undiagnosed conditions, familial pulmonary fibrosis, and the genetic underpinnings of various syndromes. Recent publications include studies on digenic inheritance, telomere attrition, and next-generation sequencing applications for complex medical diagnostics.

Articles (13)

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2025

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2024

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2023

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2023

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2023

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2023

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2023

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2022

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2022

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2022

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2022

Collaborators (12)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Pingsheng Wu

Vanderbilt University Medical Center

UNITED STATES

Vanderbilt University Medical Center

UNITED STATES

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Assistant Professor

Erasmus MC

NETHERLANDS

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Joy Cogan

Research Interests

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Articles (13)

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas

Probable digenic inheritance of Diamond–Blackfan anemia

Peripheral Blood Telomere Attrition in Persons at Risk for Familial Pulmonary Fibrosis

A medical odyssey of a 72-year-old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Participation in a national diagnostic research study: assessing the patient experience

The Genetic Landscape of Familial Pulmonary Fibrosis

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

The Association between Exposures and Disease Characteristics in Familial Pulmonary Fibrosis

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Collaborators (12)

Meena Balasubramanian

Pingsheng Wu

Christopher T. Gordon

Edwin Donnelly

Margaret Salisbury

Jonathan Kropski

Mitra Mehrad

QI LIU

Priyanka Ahimaz

Karen Joos

Mariko Nakano-Okuno

Annelot Clementine Mathilda van Esbroeck

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