| Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome M Dündar, T Müller, QI Zhang, J Pan, B Steinmann, J Vodopiutz, R Gruber, ... The American Journal of Human Genetics 85 (6), 873-882, 2009 | 153 | 2009 |
| Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea AR Janecke, P Heinz-Erian, J Yin, BS Petersen, A Franke, S Lechner, ... Human molecular genetics 24 (23), 6614-6623, 2015 | 143 | 2015 |
| ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation EJR Jansen, S Timal, M Ryan, A Ashikov, M Van Scherpenzeel, ... Nature communications 7 (1), 11600, 2016 | 138 | 2016 |
| Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy M Schmidts, J Vodopiutz, S Christou-Savina, CR Cortés, ... The American Journal of Human Genetics 93 (5), 932-944, 2013 | 137 | 2013 |
| An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study ME Steenweg, C Jakobs, A Errami, SJM van Dooren, ... Human mutation 31 (4), 380-390, 2010 | 136 | 2010 |
| Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome T Müller, S Mizumoto, I Suresh, Y Komatsu, J Vodopiutz, M Dundar, ... Human molecular genetics 22 (18), 3761-3772, 2013 | 98 | 2013 |
| Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C T Müller, I Rasool, P Heinz-Erian, E Mildenberger, C Hülstrunk, A Müller, ... Gut 65 (8), 1306-1313, 2016 | 91 | 2016 |
| Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies AM McInerney‐Leo, JE Harris, PJ Leo, MS Marshall, B Gardiner, ... Clinical genetics 88 (6), 550-557, 2015 | 58 | 2015 |
| Chest pain in hospitalized patients: cause-specific and gender-specific differences J Vodopiutz, S Poller, B Schneider, J Lalouschek, F Menz, C Stöllberger Journal of Women's Health 11 (8), 719-727, 2002 | 56 | 2002 |
| Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations E Morava, J Vodopiutz, DJ Lefeber, AR Janecke, WM Schmidt, S Lechner, ... Pediatrics 130 (4), e1034-e1039, 2012 | 54 | 2012 |
| WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease J Vodopiutz, R Seidl, D Prayer, MI Khan, JA Mayr, B Streubel, JO Steiß, ... Human mutation 36 (11), 1021-1028, 2015 | 52 | 2015 |
| De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism IJ Diets, R van der Donk, K Baltrunaite, E Waanders, MRF Reijnders, ... The American Journal of Human Genetics 104 (4), 758-766, 2019 | 43 | 2019 |
| Hidden Mutations in C ornelia de L ange Syndrome Limitations of S anger Sequencing in Molecular Diagnostics D Braunholz, C Obieglo, I Parenti, J Pozojevic, J Eckhold, B Reiz, ... Human mutation 36 (1), 26-29, 2015 | 36 | 2015 |
| SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase L Holt-Danborg, J Vodopiutz, AW Nonboe, J De Laffolie, S Skovbjerg, ... Human Molecular Genetics 28 (5), 828-841, 2019 | 30 | 2019 |
| Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity J Vodopiutz, S Mizumoto, E Lausch, A Rossi, S Unger, N Janocha, ... Human mutation 38 (1), 34-38, 2017 | 30 | 2017 |
| Prenatal diagnosis of Apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis B Weber, AH Schwabegger, J Vodopiutz, AR Janecke, R Forstner, ... Fetal diagnosis and therapy 27 (1), 51-56, 2010 | 28 | 2010 |
| Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency J Vodopiutz, CB Item, M Häusler, H Korall, OA Bodamer Journal of child neurology 22 (6), 773-774, 2007 | 25 | 2007 |
| Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III I Mihalek, O Lichtarge, A Jalan, J Vodopiutz, A Muhl, OA Bodamer Molecular genetics and metabolism 91 (4), 379-383, 2007 | 23 | 2007 |
| Homozygous SALL1 mutation causes a novel multiple congenital anomaly—mental retardation syndrome J Vodopiutz, H Zoller, AL Fenwick, R Arnhold, M Schmid, D Prayer, ... The Journal of Pediatrics 162 (3), 612-617, 2013 | 22 | 2013 |
| Congenital disorders of glycosylation—a challenging group of IEMs J Vodopiutz, OA Bodamer Journal of inherited metabolic disease 31, 267-269, 2008 | 20 | 2008 |
