C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years

ανά Roggenbuck, Jennifer
Τόπος έκδοσης Neurol Genet (2020)

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

ανά Rich, Kelly A., Roggenbuck, Jennifer, Kolb, Stephen J.
Τόπος έκδοσης Front Neurosci (2021)

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

ανά Hoyle, J Chad, Isfort, Michael C, Roggenbuck, Jennifer, Arnold, W David
Τόπος έκδοσης Appl Clin Genet (2015)

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

ανά Klepek, Holly, Goutman, Stephen A., Quick, Adam, Kolb, Stephen J., Roggenbuck, Jennifer
Τόπος έκδοσης Neurol Genet (2019)

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

ανά Roggenbuck, Jennifer, Palettas, Marilly, Vicini, Leah, Patel, Radha, Quick, Adam, Kolb, Stephen J.
Τόπος έκδοσης Neurol Genet (2020)

A 39-bp Deletion Polymorphism in PTEN in African American Individuals: Implications for Molecular Diagnostic Testing

ανά Zhou, Xiao-Ping, Hampel, Heather, Roggenbuck, Jennifer, Saba, Nabil, Prior, Thomas W., Eng, Charis
Έκδοση 2002

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

ανά Klepek, Holly, Nagaraja, Haikady, Goutman, Stephen A., Quick, Adam, Kolb, Stephen J., Roggenbuck, Jennifer
Τόπος έκδοσης Amyotroph Lateral Scler Frontotemporal Degener (2019)

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

ανά Wagner, Karin N., Nagaraja, Haikady N., Allain, Dawn C., Quick, Adam, Kolb, Stephen J., Roggenbuck, Jennifer
Τόπος έκδοσης Mol Genet Genomic Med (2017)

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

ανά Meyer, Alayne P., Roggenbuck, Jennifer, LoRusso, Samantha, Kissel, John, Smith, Rachel M., Kline, David, Arnold, W. David
Τόπος έκδοσης Front Neurol (2020)

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

ανά Roggenbuck, Jennifer, Rich, Kelly, Morales, Ana, Tan, Christopher A., Eck, Douglas, King, Wendy, Vatta, Matteo, Winder, Thomas, Elsheikh, Bakri, Hershberger, Ray E., Kissel, John T.
Τόπος έκδοσης Mol Genet Genomic Med (2019)

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

ανά Iyadurai, Stanley, Arnold, W. David, Kissel, John T., Ruhno, Corey, McGovern, Vicki L., Snyder, Pamela J., Prior, Thomas W., Roggenbuck, Jennifer, Burghes, Arthur H., Kolb, Stephen J.
Τόπος έκδοσης Muscle Nerve (2017)

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

ανά Rich, Kelly A., Moscarello, Tia, Siskind, Carly, Brock, Guy, Tan, Christopher A., Vatta, Matteo, Winder, Thomas L., Elsheikh, Bakri, Vicini, Leah, Tucker, Brianna, Palettas, Marilly, Hershberger, Ray E., Kissel, John T., Morales, Ana, Roggenbuck, Jennifer
Τόπος έκδοσης Mol Genet Genomic Med (2020)

Deletion at an 1q24 locus reveals a critical role of long noncoding RNA DNM3OS in skeletal development

ανά Yu, Ting-ting, Xu, Qiu-fan, Li, Si-Yang, Huang, Hui-jie, Dugan, Sarah, Shao, Lei, Roggenbuck, Jennifer A., Liu, Xiao-tong, Liu, Huai-ze, Hirsch, Betsy A., Yue, Shen, Liu, Chen, Cheng, Steven Y.
Τόπος έκδοσης Cell Biosci (2021)

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

ανά Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., Burghes, Arthur H.M.
Τόπος έκδοσης Hum Genet (2019)

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

ανά Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Ousager, Lilian Bomme, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Aldea, Juan José Poza, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Spitale, Allison Brennan, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn
Έκδοση 2012