| Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, ... The American Journal of Human Genetics 71 (2), 426-431, 2002 | 640 | 2002 |
| Geographical and ethnic variation of the 677C> T allele of 5, 10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide B Wilcken, F Bamforth, Z Li, H Zhu, A Ritvanen, M Redlund, C Stoll, ... Journal of medical genetics 40 (8), 619-625, 2003 | 634 | 2003 |
| Prenatal diagnosis of severe structural congenital malformations in Europe E Garne, M Loane, H Dolk, C De Vigan, G Scarano, D Tucker, C Stoll, ... Ultrasound in Obstetrics and Gynecology: The Official Journal of the …, 2005 | 393 | 2005 |
| International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? LD Botto, A Lisi, E Robert-Gnansia, JD Erickson, SE Vollset, ... Bmj 330 (7491), 571, 2005 | 344 | 2005 |
| Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research OM Mutchinick, L Luna‐Muñoz, E Amar, MK Bakker, M Clementi, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2011 | 216 | 2011 |
| WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: a case report A Biason-Lauber, G De Filippo, D Konrad, G Scarano, A Nazzaro, ... Human reproduction 22 (1), 224-229, 2007 | 216 | 2007 |
| Gastroschisis and associated defects: an international study P Mastroiacovo, A Lisi, EE Castilla, ML Martínez‐Frías, E Bermejo, ... American journal of medical genetics Part A 143 (7), 660-671, 2007 | 214 | 2007 |
| International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies G Cocchi, S Gualdi, C Bower, J Halliday, B Jonsson, Å Myrelid, ... Birth Defects Research Part A: Clinical and Molecular Teratology 88 (6), 474-479, 2010 | 199 | 2010 |
| Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta IM Orioli, EE Castilla, G Scarano, P Mastroiacovo American journal of medical genetics 59 (2), 209-217, 1995 | 190 | 1995 |
| Preventing neural tube defects in Europe: a missed opportunity A Busby, B Armstrong, H Dolk, N Armstrong, M Haeusler, A Berghold, ... Reproductive Toxicology 20 (3), 393-402, 2005 | 184 | 2005 |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 177 | 2014 |
| 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), 1026-1033, 2014 | 156 | 2014 |
| Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review IM Orioli, E Amar, J Arteaga‐Vazquez, MK Bakker, S Bianca, LD Botto, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2011 | 153 | 2011 |
| 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients L Ballarati, E Rossi, MT Bonati, S Gimelli, P Maraschio, P Finelli, S Giglio, ... Journal of Medical Genetics 44 (1), e60-e60, 2007 | 138 | 2007 |
| Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy I Filesi, F Gullotta, G Lattanzi, MR D'Apice, C Capanni, AM Nardone, ... Physiological genomics 23 (2), 150-158, 2005 | 135 | 2005 |
| Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation A Selicorni, S Russo, C Gervasini, P Castronovo, D Milani, F Cavalleri, ... Clinical genetics 72 (2), 98-108, 2007 | 132 | 2007 |
| Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature C Siffel, A Correa, E Amar, MK Bakker, E Bermejo‐Sánchez, S Bianca, ... American journal of medical genetics Part C: seminars in medical genetics …, 2011 | 120 | 2011 |
| Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients L Micale, B Augello, C Fusco, A Selicorni, MN Loviglio, MC Silengo, ... Orphanet journal of rare diseases 6, 1-8, 2011 | 109 | 2011 |
| Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of K abuki syndrome patients L Micale, B Augello, C Maffeo, A Selicorni, F Zucchetti, C Fusco, ... Human mutation 35 (7), 841-850, 2014 | 106 | 2014 |
| Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations E Leoncini, G Baranello, IM Orioli, G Annerén, M Bakker, F Bianchi, ... Birth Defects Research Part A: Clinical and Molecular Teratology 82 (8), 585-591, 2008 | 103 | 2008 |
