Gioacchino Scarano

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo et al. · The American Journal of Human Genetics · 2002 · 535 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Prenatal diagnosis of severe structural congenital malformations in Europe

Ester Garne, Maria Loane, Helen Dolk et al. · Ultrasound in Obstetrics and Gynecology · 2004 · 291 citations · Full text

Medicine, Maternal Health, Obstetrics +12

International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

Lorenzo D. Botto, Alessandra Lisi, Elisabeth Robert‐Gnansia et al. · BMJ · 2005 · 249 citations · Full text

Public Health, Obstetrics, Pediatrics +17

WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report

Anna Biason‐Lauber, Gianpaolo De Filippo, Daniel Konrad et al. · Human Reproduction · 2006 · 232 citations · Full text

Medicine, Endocrinology, Genetics +17

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags et al. · Human Molecular Genetics · 2013 · 175 citations · Full text

Life Sciences, Genetics, Neuroscience +17