| Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening M Loane, JK Morris, MC Addor, L Arriola, J Budd, B Doray, E Garne, ... European Journal of Human Genetics, 2012 | 546 | 2012 |
| Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study MR McGivern, KE Best, J Rankin, D Wellesley, R Greenlees, MC Addor, ... Archives of Disease in Childhood-Fetal and Neonatal Edition 100 (2), F137-F144, 2015 | 382 | 2015 |
| Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. S Uppal, CP Diggle, IM Carr, CW Fishwick, M Ahmed, GH Ibrahim, ... Nature Genetics 40, 789-793, 2008 | 380 | 2008 |
| X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 356 | 2016 |
| Long term trends in prevalence of neural tube defects in Europe: population based study B Khoshnood, M Loane, H De Walle, L Arriola, MC Addor, I Barisic, ... Bmj 351, 2015 | 329 | 2015 |
| Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes S Annunen, J Körkkö, M Czarny, ML Warman, HG Brunner, H Kääriäinen, ... The American Journal of Human Genetics 65 (4), 974-983, 1999 | 294 | 1999 |
| Copy-number disorders are a common cause of congenital kidney malformations S Sanna-Cherchi, K Kiryluk, KE Burgess, M Bodria, MG Sampson, ... The American Journal of Human Genetics 91 (6), 987-997, 2012 | 276 | 2012 |
| Estimating global burden of disease due to congenital anomaly: an analysis of European data B Boyle, MC Addor, L Arriola, I Barisic, F Bianchi, M Csáky-Szunyogh, ... Archives of Disease in Childhood-Fetal and Neonatal Edition 103 (1), F22-F28, 2018 | 258 | 2018 |
| The copy number variation landscape of congenital anomalies of the kidney and urinary tract M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ... Nature genetics 51 (1), 117-127, 2019 | 250 | 2019 |
| A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity M Czarny-Ratajczak, J Lohiniva, P Rogala, K Kozlowski, M Perälä, ... The American Journal of Human Genetics 69 (5), 969-980, 2001 | 241 | 2001 |
| Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene J Walczak-Sztulpa, J Eggenschwiler, D Osborn, DA Brown, F Emma, ... The American Journal of Human Genetics 86 (6), 949-956, 2010 | 235 | 2010 |
| A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome B Budny, W Chen, H Omran, M Fliegauf, A Tzschach, M Wisniewska, ... Human genetics 120 (2), 171-178, 2006 | 220 | 2006 |
| Preventing neural tube defects in Europe: a missed opportunity A Busby, L Abramsky, H Dolk, B Armstrong, MC Addor, G Anneren, ... Reprod Toxicol 20, 393-402, 2006 | 181 | 2006 |
| Paper 6: EUROCAT member registries: Organization and activities R Greenlees, A Neville, MC Addor, E Amar, L Arriola, M Bakker, I Barisic, ... Birth Defects Research Part A: Clinical and Molecular Teratology 91 (S1 …, 2011 | 170 | 2011 |
| Genetic drivers of kidney defects in the DiGeorge syndrome E Lopez-Rivera, YP Liu, M Verbitsky, BR Anderson, VP Capone, EA Otto, ... New England Journal of Medicine 376 (8), 742-754, 2017 | 165 | 2017 |
| Mutations in DSTYK and Dominant Urinary Tract Malformations S Sanna-Cherchi, RV Sampogna, N Papeta, KE Burgess, SN Nees, ... New England journal of medicine 369 (7), 621-629, 2013 | 162 | 2013 |
| Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 143 | 2020 |
| Aggressive Fibromatosis (Desmoid Tumors): Definition, Occurrence, Pathology, Diagnostic Problems, Clinical Behavior, Genetic Background T Ferenc, J Sygut, J Kopczyñski, M Mayer, A Latos-Bieleñska, A Dziki, ... Pol J Pathol 57 (1), 5-15, 2006 | 131 | 2006 |
| Parental age as a risk factor for isolated congenital malformations in a Polish population A Materna‐Kiryluk, K Wiśniewska, M Badura‐Stronka, J Mejnartowicz, ... Paediatric and perinatal epidemiology 23 (1), 29-40, 2009 | 123 | 2009 |
| Exome-wide association study identifies GREB1L mutations in congenital kidney malformations S Sanna-Cherchi, K Khan, R Westland, P Krithivasan, L Fievet, ... The American Journal of Human Genetics 101 (5), 789-802, 2017 | 118 | 2017 |
Niels TommerupProfessor in Medical Genetics, University of CopenhagenVerified email at sund.ku.dk
