| 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 | 261 | 2012 |
| 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 | 232 | 2008 |
| 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 | 220 | 1999 |
| 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 | 170 | 2001 |
| 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 | 165 | 2006 |
| 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 | 155 | 2006 |
| 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 | 152 | 2010 |
| 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, h5949, 2015 | 151 | 2015 |
| 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, 2016 | 138 | 2016 |
| 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 | 136 | 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 | 130 | 2015 |
| 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 | 116 | 2011 |
| 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 | 103 | 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 | 86 | 2009 |
| 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 | 85 | 2013 |
| Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome HJ Lüdecke, C Johnson, MJ Wagner, DE Wells, C Turleau, N Tommerup, ... American journal of human genetics 49 (6), 1197, 1991 | 79 | 1991 |
| Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe I Barisic, L Odak, M Loane, E Garne, D Wellesley, E Calzolari, H Dolk, ... European Journal of Human Genetics 22 (8), 1026, 2014 | 68 | 2014 |
| Chromosome deletions in 13q33–34: Report of four patients and review of the literature J Walczak‐Sztulpa, M Wisniewska, A Latos‐Bielenska, M Linné, ... American Journal of Medical Genetics Part A 146 (3), 337-342, 2008 | 65 | 2008 |
| Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome K Kusz, M Kotecki, A Wojda, M Szarras-Czapnik, A Latos-Bielenska, ... Journal of medical genetics 36 (6), 452-456, 1999 | 65 | 1999 |
| Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry‐based study in 14 E uropean countries 1984–2007 B Boyle, R McConkey, E Garne, M Loane, MC Addor, MK Bakker, ... BJOG: An International Journal of Obstetrics & Gynaecology 120 (6), 707-716, 2013 | 60 | 2013 |
Horst HameisterProfessor of Human Genetics, genetikum, Neu-Ulm, GermanyDirección de correo verificada de genetikum.de
