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Jennifer Roggenbuck
Jennifer Roggenbuck
Ohio State University Medical Center
Dirección de correo verificada de umn.edu
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Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
J Böhm, V Biancalana, ET DeChene, M Bitoun, CR Pierson, E Schaefer, ...
Human mutation 33 (6), 949-959, 2012
1372012
The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management
JC Hoyle, MC Isfort, J Roggenbuck, WD Arnold
The Application of Clinical Genetics, 235-243, 2015
110*2015
Mutational spectrum of the oral‐facial‐digital type I syndrome: a study on a large collection of patients
C Prattichizzo, M Macca, V Novelli, G Giorgio, A Barra, B Franco
Human mutation 29 (10), 1237-1246, 2008
1072008
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians
J Roggenbuck, A Quick, SJ Kolb
Genetics in Medicine 19 (3), 267-274, 2017
802017
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines
EG Baxi, T Thompson, J Li, JA Kaye, RG Lim, J Wu, D Ramamoorthy, ...
Nature neuroscience 25 (2), 226-237, 2022
692022
FAM20A Mutations Associated with Enamel Renal Syndrome
SK Wang, BM Reid, SL Dugan, JA Roggenbuck, L Read, P Aref, ...
Journal of dental research 93 (1), 42-48, 2014
672014
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
C Ruhno, VL McGovern, MR Avenarius, PJ Snyder, TW Prior, FC Nery, ...
Human genetics 138, 241-256, 2019
662019
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis‐splicing of a constitutive exon
D Macaya, SH Katsanis, TW Hefferon, S Audlin, NJ Mendelsohn, ...
American Journal of Medical Genetics Part A 149 (8), 1624-1627, 2009
512009
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
FB Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L ...
46*
Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature
JA Roggenbuck, NJ Mendelsohn, B Tenenholz, RL Ladda, JM Fink
American Journal of Medical Genetics Part A 126 (4), 398-402, 2004
342004
Patients with amyotrophic lateral sclerosis have high interest in and limited access to genetic testing
KN Wagner, H Nagaraja, DC Allain, A Quick, S Kolb, J Roggenbuck
Journal of genetic counseling 26, 604-611, 2017
262017
Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients
H Klepek, H Nagaraja, SA Goutman, A Quick, SJ Kolb, J Roggenbuck
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20 (3-4), 216-221, 2019
232019
Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
KN Wagner, HN Nagaraja, DC Allain, A Quick, SJ Kolb, J Roggenbuck
Molecular Genetics & Genomic Medicine 6 (2), 224-229, 2018
212018
Genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: impact on clinical management
J Roggenbuck, JC Fong
Clinics in Laboratory Medicine 40 (3), 271-287, 2020
192020
Unique case of trisomy 2p24. 3‐pter with no associated monosomy
JA Roggenbuck, JM Fink, NJ Mendelsohn
American journal of medical genetics 101 (1), 50-54, 2001
182001
Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort
J Roggenbuck, M Palettas, L Vicini, R Patel, A Quick, SJ Kolb
Neurology: Genetics 6 (1), e390, 2020
172020
Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing
H Klepek, SA Goutman, A Quick, SJ Kolb, J Roggenbuck
Neurology: Genetics 5 (1), e301, 2019
162019
Variable phenotypic expression and onset in MYH14 distal HMN phenotype in a large, multigenerational North American family
S Iyadurai, WD Arnold, JT Kissel, C Ruhno, VL McGovern, PJ Snyder, ...
Muscle & nerve 56 (2), 341, 2017
16*2017
Perception of genetic risk among genetic counselors
J Roggenbuck, JE Olson, TA Sellers, C Ludowese
Journal of Genetic Counseling 9, 47-59, 2000
162000
Searching far and genome-wide: the relevance of association studies in amyotrophic lateral sclerosis
KA Rich, J Roggenbuck, SJ Kolb
Frontiers in Neuroscience 14, 603023, 2021
122021
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Artículos 1–20