| Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy JE Wraith, M Scarpa, M Beck, OA Bodamer, L De Meirleir, N Guffon, ... European journal of pediatrics 167, 267-277, 2008 | 623 | 2008 |
| Patient-customized oligonucleotide therapy for a rare genetic disease J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ... New England Journal of Medicine 381 (17), 1644-1652, 2019 | 508 | 2019 |
| Phenylketonuria Scientific Review Conference: state of the science and future research needs KM Camp, MA Parisi, PB Acosta, GT Berry, DA Bilder, N Blau, ... Molecular genetics and metabolism 112 (2), 87-122, 2014 | 303 | 2014 |
| Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study A Rolfs, F Fazekas, U Grittner, M Dichgans, P Martus, M Holzhausen, ... Stroke 44 (2), 340-349, 2013 | 291 | 2013 |
| Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals RY Wang, OA Bodamer, MS Watson, WR Wilcox, ... Genetics in Medicine 13 (5), 457-484, 2011 | 290 | 2011 |
| Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ... Nature communications 7 (1), 11601, 2016 | 274 | 2016 |
| Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ... Journal of medical genetics 52 (6), 413-421, 2015 | 256 | 2015 |
| Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease M Scarpa, Z Almássy, M Beck, O Bodamer, IA Bruce, L De Meirleir, ... Orphanet journal of rare diseases 6, 1-18, 2011 | 239 | 2011 |
| Newborn screening for lysosomal storage disorders PJ Meikle, DJ Grasby, CJ Dean, DL Lang, M Bockmann, AM Whittle, ... Molecular genetics and metabolism 88 (4), 307-314, 2006 | 221* | 2006 |
| Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting B Winchester, D Bali, OA Bodamer, C Caillaud, E Christensen, A Cooper, ... Molecular genetics and metabolism 93 (3), 275-281, 2008 | 216 | 2008 |
| Kabuki syndrome: international consensus diagnostic criteria MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ... Journal of medical genetics 56 (2), 89-95, 2019 | 189 | 2019 |
| Expanded newborn screening in Europe 2007 OA Bodamer, GF Hoffmann, M Lindner Journal of inherited metabolic disease 30 (4), 439-444, 2007 | 180 | 2007 |
| Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ... Orphanet journal of rare diseases 8, 1-9, 2013 | 174 | 2013 |
| Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry M Holub, K Tuschl, R Ratschmann, KA Strnadová, A Mühl, G Heinze, ... Clinica chimica acta 373 (1-2), 27-31, 2006 | 174 | 2006 |
| Mucopolysaccharidosis type II in females: case report and review of literature K Tuschl, A Gal, E Paschke, S Kircher, OA Bodamer Pediatric neurology 32 (4), 270-272, 2005 | 172 | 2005 |
| Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism C Stromberger, OA Bodamer, S Stöckler-Ipsiroglu Journal of inherited metabolic disease 26, 299-308, 2003 | 164 | 2003 |
| Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders VR De Jesus, XK Zhang, J Keutzer, OA Bodamer, A Muhl, JJ Orsini, ... Clinical chemistry 55 (1), 158-164, 2009 | 154 | 2009 |
| Enhanced interpretation of newborn screening results without analyte cutoff values G Marquardt, R Currier, D McHugh, D Gavrilov, MJ Magera, D Matern, ... Genetics in medicine 14 (7), 648-655, 2012 | 142 | 2012 |
| The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus J Muenzer, O Bodamer, B Burton, L Clarke, GS Frenking, R Giugliani, ... European journal of pediatrics 171, 181-188, 2012 | 128 | 2012 |
| Treatment with a small molecule mutant IDH1 inhibitor suppresses tumorigenic activity and decreases production of the oncometabolite 2-hydroxyglutarate in human chondrosarcoma … L Li, AC Paz, BA Wilky, B Johnson, K Galoian, A Rosenberg, G Hu, ... PloS one 10 (9), e0133813, 2015 | 122 | 2015 |
