Jean Jirikowic

Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine

Laura K. Wiley, Jonathan Shortt, Emily R. Roberts, Jan T. Lowery et autres

Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of these initiatives focus solely on research insights, leading to limited direct benefit …

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Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth

Jan T. Lowery, Lisen Axell, Lisa Ku, Emily B. Todd et autres

Purpose: To describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank. Methods: Enrollment in the biobank is open to all adult UCHealth patients. Participants who provided a sample that was genotyped and signed the …

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Building a Vertically-Integrated Genomic Learning Health System: The Colorado Center for Personalized Medicine Biobank

Laura K. Wiley, Jonathan Shortt, Emily R Roberts, Jan T. Lowery et autres

ABSTRACT Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of these initiatives focus solely on research insights, leading to limited direct …

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Association of Titin Variations With Late-Onset Dilated Cardiomyopathy

Antonio Nicola Cannata, Marco Merlo, Matteo Dal Ferro, Giulia Barbati et autres

IMPORTANCE: Dilated cardiomyopathy (DCM) is frequently caused by genetic factors. Studies identifying deleterious rare variants have predominantly focused on early-onset cases, and little is known about the genetic underpinnings of the growing numbers of patients with DCM who are diagnosed when they …

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The late-onset dilated cardiomyopathy

Antonio Nicola Cannata, Marco Merlo, Paolo Manca, Matteo Dal Ferro et autres

Abstract Background Dilated Cardiomyopathy (DCM) represents a specific subgroup of non-ischemic cardiomyopathies. Little is known about the genotypic characterization of dilated cardiomyopathy (DCM) patients diagnosed over 60 years of age. Aim To investigate prevalence, characterization and prognostic impact of the genetic background …

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Clinical and genetic characterization of adult patients presenting with non-syndromic vascular aneurysms and dissections

Ryan Steven D'Souza, Dobromir B. Slavov, Sharon L Graw, Jean Jirikowic et autres

BACKGROUND: Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to bleeding, infarction, or even death. Although clinically recognizable syndromes, notably Marfan, Ehlers Danlos, and Loeys-Dietz syndromes encompass the …

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Tafazzin Gene Mutations Are Uncommon Causes of Dilated Cardiomyopathy in Adults

Matthew R.G. Taylor, Dobromir B. Slavov, Ernesto E. Salcedo, Xiao Zhu et autres

Barth syndrome is an X-linked genetic condition featuring neutropenia, skeletal myopathy, and dilated cardiomyopathy in boys due to tafazzin (TAZ) mutations. Pure dilated cardiomyopathy without other features of Barth syndrome may also result from TAZ mutations and survival into adulthood has been …

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Natural history of Danon disease

Dana Boucek, Jean Jirikowic, Matthew R.G. Taylor

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Functional performance and muscle strength phenotypes in men and women with Danon disease

Jennifer E. Stevens‐Lapsley, Laurel R. Kramer, Jaclyn E. Balter, Jean Jirikowic et autres

Danon disease is a rare X-linked myopathy that is characterized clinically by a triad of cardiomyopathy, skeletal myopathy, and cognitive impairment. The purpose of this investigation was to quantify functional performance, muscle weakness, and quadriceps activation in individuals with Danon disease as …

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NATURAL HISTORY OF THE DANON DISEASE PHENOTYPE IN A LARGE AFFECTED POPULATION

Luisa Mestroni, Dana Boucek, Jean Jirikowic, Cara Wells et autres

High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability

Matthew R.G. Taylor, Jean Jirikowic, Cara Wells, Michelle A. Springer et autres

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The usefulness of cytogenetic and DNA linkage analysis in counseling families with fragile X syndrome.

Alan Silverman, S N Thibodeau, Jean Jirikowic, Randi J. Hagerman

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