Jennifer Roggenbuck

13PUBLICATIONS
24CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Gene and molecular therapyGene expression (incl. microarray and other genome-wide approaches)Neurogenetics
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Publications (13)

|Oct 22, 2026
A Recurrent 3'UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies.

|Jul 04, 2026
Reduced penetrance in genetic ALS/FTD spectrum disorders: implications for genetic counseling, predictive testing and treatment.

|Nov 05, 2024
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.

Jade Howard, Amina Chaouch, Andrew G L Douglas

|Sep 15, 2024
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.

Jochen Gohlke, Johan Lindqvist, Zaynab Hourani

|Aug 14, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.

Jennifer Roggenbuck, Ana Morales, Colin A Ellis

|Sep 11, 2023
Evidence-based consensus guidelines for ALS genetic testing and counseling.

Jennifer Roggenbuck, Breda H F Eubank, Joshua Wright

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Frequent Collaborators

2 joint publications

Adam Quick

1 joint publications

Stephen A Goutman

1 joint publications

Stephen J Kolb

1 joint publications

Kelly A Rich