Karmen M Trzupek

Patient-reported outcome measures in central disorders of hypersomnolence: consensus of a sleep consortium/RARE-X expert working group

Karmen M Trzupek, Claire Wylds-Wright, Cynthia Kuan, Lynn Marie Trotti et autres

Central disorders of hypersomnolence (CDoH), including the primary hypersomnolence disorders of narcolepsy type 1 (NT1), narcolepsy type 2 (NT2), idiopathic hypersomnia (IH), and Kleine-Levin syndrome (KLS), as well as secondary hypersomnolence disorders, represent an underdiagnosed and under-treated population. Continuing advancements in understanding …

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RARE-X: A patient-driven approach for collecting symptom and patient-reported outcome data in rare diseases

Vanessa Vogel‐Farley, Karmen M Trzupek, Jade Gosar, Kelly L. Wentworth et autres

PURPOSE: Innovation in rare disease research is constrained by limited access to reliable and accessible patient data. Accurate characterization of many conditions requires infrastructure that captures population diversity. Existing efforts are often disease specific, investigators led, with limited data sharing. The RARE-X …

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Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership

Karmen M Trzupek, Ravi Bhargava, Fanny Sie, Vanessa Vogel‐Farley et autres

Trzupek et al. describe a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and statisticians generated solutions that identified previously underappreciated symptoms and used …

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Outcomes of an expert working group in Pompe disease: Recommended patient reported outcome measures to support an online research platform

Karmen M Trzupek, Ryan Colburn

An evidence‐based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling

Sarah Green, Deborah Hartzfeld, Alissa Terry, Kristi Fissell et autres

There are currently no practice guidelines available for genetic counseling using telehealth modalities. This evidence-based practice guideline was developed in response to increasing use of alternative service delivery models for genetic counseling, specifically telephone and video-based genetic counseling (telehealth genetic counseling or …

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Genetic testing and diagnosis of inherited retinal diseases

Byron L. Lam, Bart P. Leroy, Graeme C. Black, Tuyen Ong et autres

Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive …

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Table B. [OMIM Entries for Usher Syndrome Type II (View All in OMIM)].

Robert K. Koenekoop, Moisés A. Arriaga, Karmen M Trzupek, Jennifer J Lentz

Multiple copies of rhodopsin as a novel cause of autosomal dominant retinitis pigmentosa

Jacque L. Duncan, Karmen M Trzupek, Joan Fisher, Leilla Kenney et autres

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Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Neruban Kumaran, Mark E. Pennesi, Paul Yang, Karmen M Trzupek et autres

The purpose of this overview is to increase the clinician's awareness of Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD) and its clinical phenotypes, genetic causes, and management.The following are the goals of this overview. Goal 1 Describe the clinical …

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Genetic Testing Adds Research and Clinical Value to a Retinal Degeneration Registry

Kari Branham, Joan Fisher, Karmen M Trzupek, David G. Birch et autres

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The current status of molecular diagnosis of inherited retinal dystrophies

John Chiang, Karmen M Trzupek

PURPOSE OF REVIEW: We are witnessing lightning-fast advances in the molecular diagnosis of inherited retinal dystrophies, mainly due to the widespread use of next-generation sequencing technologies. The purpose of this review is to highlight the breadth of findings from this in-depth testing …

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[Table, Table 5. LCA5 Pathogenic Variants Discussed in This GeneReview]

Richard G. Weleber, Peter J. Francis, Karmen M Trzupek, Catie Beattie