Publications by authors named "Joy D Cogan"

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Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.
Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley McMinn, Joy D Cogan

Am J Med Genet A· January 2026

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The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Rory J Tinker, Logan M Smith, Lisa A Bastarache, Kimberly M Ezell, Yutaka Furuta, Joy D Cogan

Am J Ophthalmol· December 2025

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Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, Joy D Cogan, Thomas A Cassini

Mol Genet Genomic Med· December 2025

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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models.
Kristy L Jay, Nikhita Gogate, Paige I Hall, Kimberly M Ezell, Jonathan C Andrews, Joy D Cogan

HGG Adv· October 2025

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Circular RNA Profiling Identifies as a -Derived Regulator of Endothelial Proliferation and Stress Responses.
M Martin VandenBroek, Mackenzie C Sharp, Patrick Thompson, Emmanuel Fagbola, Douglas Quilty, Joy D Cogan

Arterioscler Thromb Vasc Biol· September 2025

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First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.
B Lakshitha A Perera, Russell Stewart, Yutaka Furuta, Kimberly M Ezell, Lynette Rives, Joy D Cogan

Neurogenetics· August 2025

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Accelerated biological ageing in familial pulmonary fibrosis.
Ana P M Serezani, Daphne B Mitchell, Joy D Cogan, M Merced U Malabanan, Cheryl R Markin

Eur Respir J· April 2025

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RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes.
Ying Cai, Ling Yan, Joy D Cogan, Lora K Hedges, Bethany Nunley

Pulm Circ· January 2025

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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.
Kimberly M Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K Pivnick, David Rinker, Joy D Cogan

Mol Genet Metab Rep· December 2024

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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.
Yutaka Furuta, Rory J Tinker, Rizwan Hamid, Joy D Cogan, Kimberly M Ezell

Orphanet J Rare Dis· November 2024

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Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models.
Kristy L Jay, Nikhita Gogate, Kim Ezell, Jonathan C Andrews, Sharayu V Jangam, Joy D Cogan

medRxiv· September 2024

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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Kimberly M Ezell, Rory J Tinker, Yutaka Furuta, Alican Gulsevin, Lisa Bastarache, Joy D Cogan

Am J Med Genet A· July 2024

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Probable digenic inheritance of Diamond-Blackfan anemia.
Yutaka Furuta, Rory J Tinker, Alican Gulsevin, Serena M Neumann, Rizwan Hamid, Joy D Cogan

Am J Med Genet A· March 2024

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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.
Yutaka Furuta, Erica T Nelson, Serena M Neumann, John A Phillips, Rizwan Hamid, Joy D Cogan

Am J Med Genet A· December 2023

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The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Rory J Tinker, Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves, Joy D Cogan

Am J Med Genet A· October 2023

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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Joy D Cogan

Eur J Hum Genet· October 2023

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The Genetic Landscape of Familial Pulmonary Fibrosis.
Qi Liu, Yuan Zhou, Joy D Cogan, Daphne B Mitchell, Quanhu Sheng

Am J Respir Crit Care Med· May 2023

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Peripheral Blood Telomere Attrition in Persons at Risk for Familial Pulmonary Fibrosis.
Margaret L Salisbury, Cheryl R Markin, Pingsheng Wu, Joy D Cogan, Daphne B Mitchell

Am J Respir Crit Care Med· January 2023

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The Association between Exposures and Disease Characteristics in Familial Pulmonary Fibrosis.
Carla R Copeland, Edwin F Donnelly, Mitra Mehrad, Guixiao Ding, Cheryl R Markin, Joy D Cogan

Ann Am Thorac Soc· December 2022

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Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by KCNC2 variants.
Souhrid Mukherjee, Thomas A Cassini, Ningning Hu, Tao Yang, Bian Li, Joy D Cogan

HGG Adv· October 2022

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Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.
Bryce A Schuler, Erica T Nelson, Mary Koziura, Joy D Cogan, Rizwan Hamid

J Clin Invest· April 2022

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One is the loneliest number: genotypic matchmaking using the electronic health record.
Elly Brokamp, Mary E Koziura, John A Phillips, Leigh Anne Tang, Joy D Cogan

Genet Med· October 2021

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Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
Souhrid Mukherjee, Joy D Cogan, John H Newman, John A Phillips, Rizwan Hamid

Am J Hum Genet· October 2021

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TBX4 Transcription Factor Is a Positive Feedback Regulator of Itself and Phospho-SMAD1/5.
Ying Cai, Ling Yan, Matthew J Kielt, Joy D Cogan, Lora K Hedges

Am J Respir Cell Mol Biol· January 2021

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Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Kendall J Burdick, Joy D Cogan, Lynette C Rives, Amy K Robertson, Mary E Koziura

Am J Med Genet A· June 2020

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