Nicole Bigi
Hôpital Arnaud de Villeneuve(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Fetal and Pediatric Neurological Disorders, Congenital Anomalies and Fetal Surgery, Tumors and Oncological Cases
Most-Cited Works
- → Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies(2012)189 cited
- → Molecular heterogeneity in fetal forms of type II lissencephaly(2007)63 cited
- → Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations(2012)56 cited
- → Prader‐Willi syndrome: is there a recognizable fetal phenotype?(2008)42 cited
- → Mosaic parental germline mutations causing recurrent forms of malformations of cortical development(2015)36 cited
- → Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations(2020)34 cited
- → Linear Insertion of Atrioventricular Valves without Septal Defect: A New Anatomical Landmark for Down’s Syndrome?(2002)21 cited
- → Severe X‐linked chondrodysplasia punctata in nine new female fetuses(2015)20 cited
- → Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses(2011)18 cited
- → Prevalence and timing of pregnancy termination for brain malformations: Table 1(2011)16 cited