Concepedia

Sophie Audollent

SA

14

Publications

2K

Citations

14

H-Index

2000

Active since

Affiliations

Hôpital Necker-Enfants Malades(Current)

Inserm

Université Paris Cité

Hôpital Robert-Debré

Assistance Publique – Hôpitaux de Paris

Sophie Audollent is an author at Hôpital Necker-Enfants Malades specializing in medicine, genetics, and molecular genetics.

Top concepts

GeneticsMedicineMolecular GeneticsPathologyDevelopmental BiologyClinical GeneticsGene ExpressionMolecular BiologyMonogenic DisordersInherited Metabolic Disease

Publications per year

2000–2010

14

Publications

14

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas et al. · The American Journal of Human Genetics · 2008 · 395 citations · Full text

Developmental Biology, Mendelian Disorder, Joubert Syndrome +10

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jelena Martinović et al. · The American Journal of Human Genetics · 2007 · 280 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +7

Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7</i> truncating mutations correlates with expression during human development

Damien Sanlaville, Heather Etchevers, Marie Gonzalès et al. · Journal of Medical Genetics · 2005 · 239 citations · Full text

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour et al. · The American Journal of Human Genetics · 2006 · 235 citations · Full text

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9

JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome

Cécile Crosnier, Tania Attié‐Bitach, Férechté Encha-Razavi et al. · Hepatology · 2000 · 161 citations · Full text

Genetics, Jagged1 Gene Expression, Vascular Malformation +19

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