| Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome J Muenzer, M Beck, CM Eng, R Giugliani, P Harmatz, R Martin, ... Genetics in Medicine 13 (2), 95-101, 2011 | 255 | 2011 |
| Cerebrovascular complications in EhlersDanlos syndrome type IV KN North, DAH Whiteman, MG Pepin, PH Byers Annals of neurology 38 (6), 960-964, 1995 | 197 | 1995 |
| Defects of mitochondrial β-oxidation: a growing group of disorders J Vockley, DAH Whiteman Neuromuscular disorders 12 (3), 235-246, 2002 | 152 | 2002 |
| The human ribosomal RNA genes: structure and organization of the complete repeating unit JE Sylvester, DA Whiteman, R Podolsky, JM Pozsgay, J Respess, ... Human genetics 73, 193-198, 1986 | 137 | 1986 |
| Molecular characterization of cytogenetic alterations associated with the Beckwith—Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is … R Weksberg, I Teshima, BRG Williams, CR Greenberg, SM Pueschel, ... Human molecular genetics 2 (5), 549-556, 1993 | 117 | 1993 |
| Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future DAH Whiteman, A Kimura Drug design, development and therapy, 2467-2480, 2017 | 87 | 2017 |
| Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a … BK Burton, DAH Whiteman, HOS Investigators Molecular genetics and metabolism 103 (2), 113-120, 2011 | 75 | 2011 |
| The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life M Raluy-Callado, WH Chen, DAH Whiteman, J Fang, I Wiklund Orphanet Journal of Rare Diseases 8, 1-10, 2013 | 74 | 2013 |
| Optic nerve coloboma associated with renal disease RG Weaver, LF Cashwell, W Lorentz, D Whiteman, KR Geisinger, M Ball, ... American journal of medical genetics 29 (3), 597-605, 1988 | 74 | 1988 |
| Mucolipidosis type IV: clinical manifestations and natural history D Chitayat, CM Meunier, KA Hodgkinson, K Silver, M Flanders, ... American journal of medical genetics 41 (3), 313-318, 1991 | 71 | 1991 |
| Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry J Muenzer, SA Jones, A Tylki-Szymańska, P Harmatz, NJ Mendelsohn, ... Orphanet journal of rare diseases 12, 1-9, 2017 | 69 | 2017 |
| CHARGE association in a child with de novo inverted duplication (14)(q22→ q24. 3) KN North, BL Wu, BN Cao, DAH Whiteman, BR Korf American journal of medical genetics 57 (4), 610-614, 1995 | 53 | 1995 |
| The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with … AJ Barbier, B Bielefeld, DAH Whiteman, M Natarajan, A Pano, DA Amato Molecular Genetics and Metabolism 110 (3), 303-310, 2013 | 52 | 2013 |
| Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas M Hansen, MJ Lucarelli, DAH Whiteman, JB Mulliken American journal of medical genetics 61 (1), 71-74, 1996 | 50 | 1996 |
| A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy R Giugliani, WL Hwu, A Tylki-Szymanska, DAH Whiteman, A Pano Genetics in Medicine 16 (6), 435-441, 2014 | 47 | 2014 |
| Primer on medical genomics part I: History of genetics and sequencing of the human genome CP Lorentz, ED Wieben, A Tefferi, DAH Whiteman, GW Dewald Mayo Clinic Proceedings 77 (8), 773-782, 2002 | 46 | 2002 |
| Diagnosis and management of defects of mitochondrial β-oxidation J Vockley, RH Singh, DAH Whiteman Current Opinion in Clinical Nutrition & Metabolic Care 5 (6), 601-609, 2002 | 45 | 2002 |
| Observational prospective natural history of patients with Sanfilippo syndrome type B CB Whitley, M Cleary, KE Mengel, P Harmatz, E Shapiro, I Nestrasil, ... The Journal of pediatrics 197, 198-206. e2, 2018 | 43 | 2018 |
| Primer on medical genomics part II: Background principles and methods in molecular genetics A Tefferi, ED Wieben, GW Dewald, DAH Whiteman, ME Bernard, ... Mayo Clinic Proceedings 77 (8), 785-808, 2002 | 42 | 2002 |
| Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome … AF Lewanda, MM Cohen Jr, CE Jackson, EW Taylor, X Li, M Beloff, D Day, ... Genomics 19 (1), 115-119, 1994 | 41 | 1994 |
