Author

Agnès Bourillon

Observed names: A. Bourillon, Agnes Bourillon, Agnès Bourillon

Institutions: Assistance Publique – Hôpitaux de Paris, Hôpital Paul-Brousse

Observed institutions: Université Paris-Sud, Inserm, Université Paris-Saclay, Assistance Publique – Hôpitaux de Paris, Laboratoire de Biochimie, Hôpital Robert-Debré, Hôpital Ambroise-Paré, Hôpital Saint-Louis, Hôpital Bichat-Claude-Bernard, Hôpital Paul-Brousse, Université Paris Diderot, University of California, Berkeley

OpenAlex ID: A5108414684

A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa

2010 · Nadem Soufir, Cecile Ged, et al. · Journal of Investigative Dermatology · 110

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

2009 · Erick Denamur, Anne-Lise Delezoide, et al. · Kidney International · 90

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

2016 · Virginia Guarani, Claude Jardel, et al. · eLife · 69

Variants of theMATP/SLC45A2gene are protective for melanoma in the French population

2008 · Mickaël Guedj, Agnès Bourillon, et al. · Human Mutation · 67

Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-CausingPOLHMutations

2013 · Kristina Opletalova, Agnès Bourillon, et al. · Human Mutation · 49

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk

2009 · Julie Di Lucca, Mickael Guedj, et al. · European Journal of Cancer · 44

Rifampin-Resistant RNA Polymerase Mutants of Chlamydia trachomatis Remain Susceptible to the Ansamycin Rifalazil

2005 · Robert J. Suchland, Agnès Bourillon, et al. · Antimicrobial Agents and Chemotherapy · 39

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder

2015 · M. Gérard, G. Morin, et al. · European Journal of Medical Genetics · 38

SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation

2019 · Joseph P. Dewulf, Elsa Wiame, et al. · Annals of Neurology · 37

Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk

2005 · Nadem Soufir, Roubila Meziani, et al. · JNCI Journal of the National Cancer Institute · 27

Mitochondrial acetoacetyl‐CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

2017 · Stéphanie Paquay, Agnès Bourillon, et al. · Journal of Inherited Metabolic Disease · 24

Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects

2011 · Hui-Han Hu, Mickael Guedj, et al. · Journal of Dermatological Science · 23

A Large French Case-Control Study Emphasizes the Role of RareMc1RVariants in Melanoma Risk

2014 · Hui-Han Hu, Mériem Benfodda, et al. · BioMed Research International · 20

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon

2017 · I. Tostivint, N. Royer, et al. · Clinical Genetics · 18

Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival

2008 · S. Jacobelli, N. Soufir, et al. · British Journal of Dermatology · 14

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

2016 · Carole Harbulot, Stéphanie Paquay, et al. · Molecular Genetics and Metabolism Reports · 9

Genetic variation at KIT locus may predispose to melanoma

2012 · Agnes Bourillon, Hui‐Han Hu, et al. · Pigment Cell & Melanoma Research · 9

Interactions between ultraviolet light exposure and DNA repair gene polymorphisms may increase melanoma risk

2010 · J. Di Lucca, M. Guedj, et al. · British Journal of Dermatology · 8

Étude clinique et moléculaire de patients atteints de cylindromatose

2011 · A. Tsalamlal, A. Bourillon, et al. · Annales de Dermatologie et de Vénéréologie · 1

Pharmacological Inhibition of SP1 Reverses Cancer Stemness and Enhances Sorafenib Efficacy in Hepatocellular Carcinoma

2026 · Maël Padelli, Christophe Desterke, et al. · Cells

Revisiting Hepatic Small Vessel Neoplasms and Anastomosing Hemangiomas as a Unique Capillary Liver Neoplasm: A 25-Case Series With Pathomolecular Correlations

2025 · Aurélie Beaufrère, Astrid Laurent-Bellue, et al. · Modern Pathology

Author response: QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

2016 · Virginia Guarani, Claude Jardel, et al. · eLife

SFP P-051 – Syndrome MEGDEL avec polyurie et insuffisance rénale néonatales

2014 · C. Harbulot, I. Dorboz, et al. · Archives de Pédiatrie

Transient neonatal polyuria and renal failure: New features of MEGDEL syndrome

2014 · Stéphanie Paquay, Carole Harbulot, et al. · Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B))

Rôle des différents groupes de variants MC1R sur le risque de mélanome: une grande étude cas témoin française

2013 · H.-H. Hu, M. Benfodda, et al. · Annales de Dermatologie et de Vénéréologie

Works count: 29

Citation count: 696

H-index: 14

I10-index: 15