Concepedia
Statistics
Publications
12
Citations
585
H-Index
Active since
2005
Affiliations
Inserm(Current)
Assistance Publique – Hôpitaux de Paris
Université Paris Cité
Hôpital Bichat-Claude-Bernard
Université Claude Bernard Lyon 1
Agnès Bourillon is an author at Inserm specializing in genetics, medical genetics, and medicine.
Publications per year
2005–2019
A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa
Nadem Soufir, Cécile Ged, Agnès Bourillon et al. · Journal of Investigative Dermatology · 2010 · 100 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
Érick Denamur, Anne‐Lise Delezoide, Corinne Alberti et al. · Kidney International · 2009 · 93 citations
Medicine, Genetics, Molecular Genetics +14
Variants of the<i>MATP</i>/<i>SLC45A2</i>gene are protective for melanoma in the French population
Mickaël Guedj, Agnès Bourillon, Christophe Combadière et al. · Human Mutation · 2008 · 67 citations
Medicine, Dermatology, Genetics +16
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Virgínia Guarani, Claude Jardel, Dominique Chrétien et al. · eLife · 2016 · 66 citations · Full text
Life Sciences, Genetics, Molecular Biology +17
Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk
Julie Di Lucca, Mickaël Guedj, J Lacapère et al. · European Journal of Cancer · 2009 · 46 citations
Medicine, Dermatology, Genetics +14
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