Jennifer Roggenbuck

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 11

Top Topics

Amyotrophic Lateral Sclerosis

Myasthenia Gravis

Palliative Care

Top Venues

Neurology. Genetics

Molecular genetics & genomic medicine

Journal of the peripheral nervous system : JPNS

Human molecular genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Jennifer Roggenbuck, Ana Morales, Colin A Ellis, Laynie Dratch, Molly Stetler, Christopher A Tan, Brianna Bucknor, Kathryn E Hatchell, Swaroop Aradhya, Edward D Esplin, Yi-Lee Ting, Stephen W Scherer
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Jennifer Roggenbuck, Ana Morales, Colin A Ellis, Laynie Dratch, Molly Stetler, Christopher A Tan, Brianna Bucknor, Kathryn E Hatchell, Swaroop Aradhya, Edward D Esplin, Yi-Lee Ting, Stephen W Scherer
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. Journal of the peripheral nervous system : JPNS (2024)
Jochen Gohlke, Johan Lindqvist, Zaynab Hourani, Sarah Heintzman, Paola Tonino, Bakri Elsheikh, Ana Morales, Matteo Vatta, Arthur Burghes, Henk Granzier, Jennifer Roggenbuck
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease. Human molecular genetics (2024)
Jennifer Roggenbuck, Breda H F Eubank, Joshua Wright, Matthew B Harms, Stephen J Kolb, null null
Evidence-based consensus guidelines for ALS genetic testing and counseling. Annals of clinical and translational neurology (2023)
Jennifer Roggenbuck, Kelly A Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D Glass
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic. Neurology. Genetics 7 (5) (2021)
Jennifer Roggenbuck
C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years. Neurology. Genetics 7 (1) (2020)
Kelly A Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A Tan, Matteo Vatta, Thomas L Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E Hershberger, John T Kissel, Ana Morales, Jennifer Roggenbuck
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy. Molecular genetics & genomic medicine 8 (10) (2020)
Jennifer Roggenbuck, Marilly Palettas, Leah Vicini, Radha Patel, Adam Quick, Stephen J Kolb
Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort. Neurology. Genetics 6 (1) (2020)
Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E Hershberger, John T Kissel
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy. Molecular genetics & genomic medicine 7 (11) (2019)
Holly Klepek, Stephen A Goutman, Adam Quick, Stephen J Kolb, Jennifer Roggenbuck
Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing. Neurology. Genetics 5 (1) (2019)
Jennifer Roggenbuck, Adam Quick, Stephen J Kolb
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians. Genetics in medicine : official journal of the American College of Medical Genetics 19 (3) (2016)