| 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 | 138 | 2012 |
| 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 | 112* | 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 | 107 | 2008 |
| 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 | 81 | 2017 |
| 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 | 78 | 2022 |
| 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 | 70 | 2014 |
| 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 | 66 | 2019 |
| 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 | 51 | 2009 |
| 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 | 34 | 2004 |
| 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 | 26 | 2017 |
| 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 | 24 | 2019 |
| 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 | 21 | 2018 |
| 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 | 19 | 2020 |
| 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 | 18 | 2001 |
| 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 | 17 | 2020 |
| 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 | 17* | 2017 |
| 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 | 16 | 2019 |
| Perception of genetic risk among genetic counselors J Roggenbuck, JE Olson, TA Sellers, C Ludowese Journal of Genetic Counseling 9, 47-59, 2000 | 16 | 2000 |
| 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 | 13 | 2021 |
Stephen J KolbOhio State University Wexner Medical CenterZweryfikowany adres z osumc.edu
