J. Roggenbuck

发表

Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results

S. Hovick, A. Sturm, A. Morales, 2019, Journal of genetic counseling.

Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management.

J. Fong, J. Roggenbuck, 2020, Clinics in laboratory medicine.

Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians

S. Kolb, J. Roggenbuck, Adam Quick, 2016, Genetics in Medicine.

Predictive genetic testing for Motor neuron disease: time for a guideline?

M. Amador, A. Clarke, A. McEwen, 2022, European Journal of Human Genetics.

C9orf72 and the Care of the Patient With ALS or FTD

J. Roggenbuck, 2020, Neurology: Genetics.

Amyotrophic Lateral Sclerosis Genetic Access Program

J. Glass, C. Zaleski, J. Roggenbuck, 2021, Neurology: Genetics.

GEN-01 The ALS GAP program: paving the way for genetic characterization of ALS in the clinic

J. Glass, J. Roggenbuck, Tara Lincoln, 2019 .

Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing

H. Nagaraja, S. Kolb, J. Roggenbuck, 2017, Journal of Genetic Counseling.

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines

Andrea D Matlock, J. Krakauer, K. Sachs, 2020, Nature Neuroscience.

Identifying patterns in amyotrophic lateral sclerosis progression from sparse longitudinal data

Kristen A. Severson, Andrea D Matlock, J. Krakauer, 2022, Nature Computational Science.

Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients

H. Nagaraja, Holly Klepek, S. Kolb, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Clinical testing panels for ALS: global distribution, consistency, and challenges

A. Al-Chalabi, J. Landers, E. Rampersaud, 2022, medRxiv.

Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

S. Kolb, J. Roggenbuck, Kelly A Rich, 2021, Frontiers in Neuroscience.

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

T. Prior, K. Swoboda, J. Kissel, 2019, Human Genetics.

The genetics of Charcot – Marie – Tooth disease : current trends and future implications for diagnosis and management

W. Arnold, W David Arnold, J. Roggenbuck, 2015 .

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

M. Vatta, R. Hershberger, C. Siskind, 2020, Molecular genetics & genomic medicine.

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry

J. Roggenbuck, W. Lim, S. Lenz, 2021, Genes.

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

W. Arnold, J. Kissel, David M Kline, 2020, Frontiers in Neurology.

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family

W. Arnold, T. Prior, J. Kissel, 2016, Muscle & nerve.

Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide

Anirudh Gupta, S. Iyadurai, S. Lorusso, 2021, Neuromuscular Disorders.

Theme 2 Genetics and genomics

J. Glass, J. Roggenbuck, Tara Lincoln, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort

Radha Patel, S. Kolb, J. Roggenbuck, 2020, Neurology: Genetics.

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing

H. Nagaraja, S. Kolb, J. Roggenbuck, 2017, Molecular genetics & genomic medicine.

Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing

Holly Klepek, S. Kolb, J. Roggenbuck, 2019, Neurology: Genetics.

The Application of Clinical Genetics Dovepress the Genetics of Charcot–marie–tooth Disease: Current Trends and Future Implications for Diagnosis and Management

W. Arnold, J. Roggenbuck, C. Hoyle, 2022 .

The Application of Clinical Genetics Dovepress the Genetics of Charcot–marie–tooth Disease: Current Trends and Future Implications for Diagnosis and Management

J. Roggenbuck, D. Arnold, J. Hoyle, 2022 .

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

T. Prior, K. Swoboda, J. Kissel, 2019, Human Genetics.

Evidence‐based consensus guidelines for ALS genetic testing and counseling

J. Roggenbuck, B. Eubank, Breda H F Eubank, 2023, Annals of clinical and translational neurology.

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

M. Vatta, R. Hershberger, J. Kissel, 2019, Molecular genetics & genomic medicine.

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study

C. Siskind, T. Moscarello, J. Roggenbuck, 2023, Journal of medical genetics.