Sabine Sigaudy
Méditerranée Infection Foundation(FR)Assistance Publique Hôpitaux de Marseille(FR)Hôpital de la Timone(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genetic and Kidney Cyst Diseases, Genomic variations and chromosomal abnormalities, Fetal and Pediatric Neurological Disorders, RNA Research and Splicing
Most-Cited Works
- → BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus(2006)285 cited
- → CHARGE syndrome: Report of 47 cases and review(1998)254 cited
- → Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome(2004)184 cited
- → De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development(2017)132 cited
- → Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease(2010)129 cited
- → Bardet-Biedl Syndrome(2010)125 cited