| A copy number variation morbidity map of developmental delay GM Cooper, BP Coe, S Girirajan, JA Rosenfeld, TH Vu, C Baker, ... Nature genetics 43 (9), 838-846, 2011 | 1473 | 2011 |
| Adriamycin-induced senescence in breast tumor cells involves functional p53 and telomere dysfunction LW Elmore, CW Rehder, X Di, PA McChesney, CK Jackson-Cook, ... Journal of Biological Chemistry 277 (38), 35509-35515, 2002 | 320 | 2002 |
| Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) JL Deignan, WK Chung, HM Kearney, KG Monaghan, CW Rehder, ... Genetics in Medicine 21 (6), 1267-1270, 2019 | 172 | 2019 |
| Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory … DS Bali, JL Goldstein, S Banugaria, J Dai, J Mackey, C Rehder, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012 | 147 | 2012 |
| Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the … SG Banugaria, SN Prater, TT Patel, SM DeArmey, C Milleson, KB Sheets, ... PLoS One 8 (6), e67052, 2013 | 127 | 2013 |
| American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing CW Rehder, KL David, B Hirsch, HV Toriello, CM Wilson, HM Kearney Genetics in medicine 15 (2), 150-152, 2013 | 114 | 2013 |
| Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics … C Rehder, LJH Bean, D Bick, E Chao, W Chung, S Das, J O’Daniel, ... Genetics in Medicine 23 (8), 1399-1415, 2021 | 105 | 2021 |
| Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding SB Haga, R Mills, KI Pollak, C Rehder, AH Buchanan, IM Lipkus, JH Crow, ... Genome medicine 6, 1-11, 2014 | 88 | 2014 |
| Disruption of Fgf13 causes synaptic excitatory–inhibitory imbalance and genetic epilepsy and febrile seizures plus RS Puranam, XP He, L Yao, T Le, W Jang, CW Rehder, DV Lewis, ... Journal of Neuroscience 35 (23), 8866-8881, 2015 | 87 | 2015 |
| Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques SP Young, M Piraud, JL Goldstein, H Zhang, C Rehder, P Laforet, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012 | 86 | 2012 |
| Histiocytic sarcoma arising in indolent small B-cell lymphoma: report of two cases with molecular/genetic evidence suggestive of a ‘transdifferentiation’during the clonal evolution E Wang, CB Hutchinson, Q Huang, S Sebastian, C Rehder, A Kanaly, ... Leukemia & lymphoma 51 (5), 802-812, 2010 | 84 | 2010 |
| Clinical and molecular predictors of disease severity and survival in chronic lymphocytic leukemia JB Weinberg, AD Volkheimer, Y Chen, BE Beasley, N Jiang, MC Lanasa, ... American journal of hematology 82 (12), 1063-1070, 2007 | 73 | 2007 |
| CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy KL Berrier, ZB Kazi, SN Prater, DS Bali, J Goldstein, MC Stefanescu, ... Genetics in Medicine 17 (11), 912-918, 2015 | 71 | 2015 |
| Practical considerations in the clinical application of whole‐exome sequencing V Shashi, A McConkie‐Rosell, K Schoch, V Kasturi, C Rehder, YH Jiang, ... Clinical genetics 89 (2), 173-181, 2016 | 70 | 2016 |
| Donor cell–derived leukemias/myelodysplastic neoplasms in allogeneic hematopoietic stem cell transplant recipients: a clinicopathologic study of 10 cases and a comprehensive … E Wang, CB Hutchinson, Q Huang, CM Lu, J Crow, FF Wang, S Sebastian, ... American journal of clinical pathology 135 (4), 525-540, 2011 | 70 | 2011 |
| Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy NT Leach, C Rehder, K Jensen, S Holt, C Jackson-Cook Mechanisms of ageing and development 125 (8), 563-573, 2004 | 63 | 2004 |
| Pseudo–Pelger-Huët anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome–related Pseudo–Pelger-Huët anomaly E Wang, E Boswell, I Siddiqi, CM Lu, S Sebastian, C Rehder, Q Huang American journal of clinical pathology 135 (2), 291-303, 2011 | 61 | 2011 |
| Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene DS Bali, JL Goldstein, K Fredrickson, C Rehder, A Boney, S Austin, ... Molecular genetics and metabolism 111 (3), 309-313, 2014 | 60 | 2014 |
| Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with glycogen storage disease type III JL Goldstein, SL Austin, K Boyette, A Kanaly, A Veerapandiyan, C Rehder, ... Genetics in Medicine 12 (7), 424-430, 2010 | 59 | 2010 |
| Sequential development of histiocytic sarcoma and diffuse large b-cell lymphoma in a patient with a remote history of follicular lymphoma with genotypic evidence of a clonal … E Wang, J Papalas, CB Hutchinson, E Kulbacki, Q Huang, S Sebastian, ... The American journal of surgical pathology 35 (3), 457-463, 2011 | 58 | 2011 |
