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N. Burnichon · SciRah

Researcher profile · Semantic Scholar

N. Burnichon

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N. Burnichon — researcher profile on SciRah

h-index: 40
Works: 97
Citations: 7,173

Most-cited papers

SDH mutations establish a hypermethylator phenotype in paraganglioma.
E. Letouzé, Cosimo Martinelli, Céline Loriot, N. Burnichon +14 more
2013Cancer Cell745 citations Open access
Semantic Scholar
SDHA is a tumor suppressor gene causing paraganglioma.
N. Burnichon, J. Brière, R. Libé, Laure Vescovo +10 more
2010Human Molecular Genetics673 citations Open access
Semantic Scholar
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.
L. Amar, E. Baudin, N. Burnichon, S. Peyrard +7 more
2007Journal of Clinical Endocrinology and Metabolism427 citations
Semantic Scholar
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
N. Burnichon, V. Rohmer, L. Amar, P. Herman +16 more
2009Journal of Clinical Endocrinology and Metabolism370 citations
Semantic Scholar
MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
N. Burnichon, A. Cascón, F. Schiavi, Nicole Paes Morales +57 more
2012Clinical Cancer Research336 citations Open access
Semantic Scholar
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
N. Burnichon, Laure Vescovo, L. Amar, R. Libé +10 more
2011Human Molecular Genetics311 citations Open access
Semantic Scholar
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.
E. Korpershoek, J. Favier, J. Gaal, N. Burnichon +14 more
2011Journal of Clinical Endocrinology and Metabolism295 citations
Semantic Scholar
The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas
J. Favier, J. Brière, N. Burnichon, J. Rivière +13 more
2009PLoS ONE254 citations Open access
Semantic Scholar
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
R. Toledo, N. Burnichon, A. Cascón, Diana E. Benn +14 more
2017Nature Reviews Endocrinology225 citations Open access
Semantic Scholar
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network
G. Lesca, C. Olivieri, N. Burnichon, F. Pagella +14 more
2007Genetics in Medicine212 citations Open access
Semantic Scholar
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas
Luis J. Castro-Vega, E. Letouzé, N. Burnichon, A. Buffet +18 more
2015Nature Communications176 citations Open access
Semantic Scholar
An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.
A. Buffet, N. Burnichon, J. Favier, A. Gimenez-Roqueplo
2020Best practice & research. Clinical endocrinology & metabolism170 citations Open access
Semantic Scholar
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
N. Burnichon, A. Buffet, B. Parfait, E. Letouzé +10 more
2012Human Molecular Genetics151 citations
Semantic Scholar
Genetics of pheochromocytoma and paraganglioma in Spanish patients.
A. Cascón, G. Pita, N. Burnichon, I. Landa +13 more
2009Journal of Clinical Endocrinology and Metabolism142 citations
Semantic Scholar
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
J. Gaal, N. Burnichon, E. Korpershoek, Isabelle Roncelin +5 more
2010Journal of Clinical Endocrinology and Metabolism137 citations
Semantic Scholar
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
L. Amar, K. Pacak, O. Steichen, S. Akker +26 more
2021Nature Reviews Endocrinology135 citations Open access
Semantic Scholar
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
L. Cazabat, R. Libé, K. Perlemoine, F. René-Corail +8 more
2007European Journal of Endocrinology130 citations Open access
Semantic Scholar
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
A. Buffet, A. Morin, Luis J. Castro-Vega, F. Habarou +15 more
2018Cancer Research123 citations
Semantic Scholar
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
C. Boedeker, Zoran Erlic, S. Richard, U. Kontny +18 more
2009Journal of Clinical Endocrinology and Metabolism119 citations Open access
Semantic Scholar
A Decade (2001–2010) of Genetic Testing for Pheochromocytoma and Paraganglioma
A. Buffet, A. Vénisse, V. Nau, I. Roncellin +10 more
2012Hormone and Metabolic Research117 citations
Semantic Scholar
Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma
S. Job, I. Draskovic, N. Burnichon, A. Buffet +14 more
2018Clinical Cancer Research112 citations
Semantic Scholar
Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations.
Céline Loriot, N. Burnichon, Noémie Gadessaud, Laure Vescovo +7 more
2012Journal of Clinical Endocrinology and Metabolism106 citations
Semantic Scholar
MUTATION IN BRIEF
G. Lesca, N. Burnichon, G. Raux, M. Tosi +13 more
85 citations
Semantic Scholar
Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling.
P. Bénit, E. Letouzé, Malgorzata Rak, Laetitia Aubry +4 more
2014Biochimica et Biophysica Acta84 citations Open access
Semantic Scholar
Rationale for Anti-angiogenic Therapy in Pheochromocytoma and Paraganglioma
J. Favier, P. Igaz, N. Burnichon, L. Amar +7 more
2012Endocrine pathology83 citations
Semantic Scholar
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
M. Lenglet, F. Robriquet, K. Schwarz, C. Camps +47 more
2018Blood79 citations Open access
Semantic Scholar
TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.
N. Abermil, M. Guillaud-Bataille, N. Burnichon, A. Vénisse +10 more
2012Journal of Clinical Endocrinology and Metabolism71 citations
Semantic Scholar
In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma
Charlotte Lussey-Lepoutre, Alexandre Bellucci, A. Morin, A. Buffet +17 more
2015Clinical Cancer Research69 citations Open access
Semantic Scholar
Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma
B. Calsina, Luis J. Castro-Vega, R. Torres-Pérez, L. Inglada-Pérez +37 more
2019Theranostics68 citations Open access
Semantic Scholar
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
L. Ben Aim, P. Pigny, Luis J. Castro-Vega, A. Buffet +14 more
2019Journal of Medical Genetics67 citations Open access
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
Sino-European differences in the genetic landscape and clinical presentation of pheochromocytoma and paraganglioma.
Jingjing Jiang, Jing Zhang, Y. Pang, N. Bechmann +26 more
2020Journal of Clinical Endocrinology and Metabolism61 citations Open access
Semantic Scholar
Penetrance and clinical consequences of a gross SDHB deletion in a large family
DC Solis, N. Burnichon, Hjlm Timmers, MJ Raygada +7 more
2009Clinical Genetics61 citations Open access
Semantic Scholar
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
P. Pujol, Pierre Vande-Perre, L. Faivre, D. Sanlaville +42 more
2018European Journal of Human Genetics60 citations Open access
Semantic Scholar
RECENT ADVANCES IN THE GENETICS OF PHAEOCHROMOCYTOMA AND FUNCTIONAL PARAGANGLIOMA
A. Gimenez-Roqueplo, N. Burnichon, L. Amar, J. Favier +2 more
2008Clinical and Experimental Pharmacology and Physiology57 citations
Semantic Scholar
Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1
Aurélien Morini, Tom Drossart, M. Timsit, M. Sibony +7 more
2021Modern Pathology53 citations Open access
Semantic Scholar
Mutations associated with succinate dehydrogenase d‐related malignant paragangliomas
Henri J. L. M. Timmers, K. Pacak, J. Bertherat, J. Lenders +7 more
2008Clinical Endocrinology53 citations Open access
Semantic Scholar
A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.
N. Burnichon, C. Lepoutre-lussey, J. Laffaire, Noémie Gadessaud +6 more
2011European Journal of Endocrinology51 citations Open access
Semantic Scholar
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
N. Burnichon, J. Mazzella, D. Drui, L. Amar +11 more
2016Journal of Medical Genetics47 citations
Semantic Scholar
Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective study
J. Favier, T. Méatchi, E. Robidel, C. Badoual +4 more
2019Modern Pathology41 citations Open access
Semantic Scholar
The genetics of paragangliomas.
N. Burnichon, N. Abermil, A. Buffet, J. Favier +1 more
2012European Annals of Otorhinolaryngology Head and Neck Diseases40 citations Open access
Semantic Scholar
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation
J. Leclerc, Cathy Flament, T. Lovecchio, Lucie Delattre +14 more
2018Genetics in Medicine38 citations Open access
Semantic Scholar
Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1
Jessica Moramarco, Nada El Ghorayeb, N. Dumas, S. Nolet +7 more
2017Clinical Endocrinology32 citations
Semantic Scholar
A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL
I. Bourdeau, S. Grunenwald, N. Burnichon, E. Khalifa +4 more
2016Journal of Clinical Endocrinology and Metabolism32 citations Open access
Semantic Scholar
Pheochromocytoma and paraganglioma: molecular testing and personalized medicine
N. Burnichon, A. Buffet, A. Gimenez-Roqueplo
2016Current Opinion in Oncology28 citations
Semantic Scholar
Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas
Charlotte Lussey-Lepoutre, Alexandre Bellucci, N. Burnichon, L. Amar +11 more
2019European Journal of Nuclear Medicine and Molecular Imaging27 citations
Semantic Scholar
MET alterations in biphasic squamoid alveolar papillary renal cell carcinomas and clinicopathological features
Thomas Denize, P. Just, M. Sibony, H. Blons +13 more
2020Modern Pathology25 citations Open access
Semantic Scholar
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Luis J. Castro-Vega, S. Kiando, N. Burnichon, A. Buffet +9 more
2016Journal of Clinical Endocrinology and Metabolism21 citations Open access
Semantic Scholar
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas The NGS in PPGL ( NGSnPPGL ) Study Group
N. Burnichon, A. Cascón, Diana E. Benn, J. Bayley +4 more
201621 citations
Semantic Scholar
Long-Term Control of Hypercortisolism by Vandetanib in a Case of Medullary Thyroid Carcinoma with a Somatic RET Mutation
Anne-Cécile Paepegaey, B. Cochand-Priollet, E. Louiset, P. Sarfati +6 more
2017Thyroid20 citations
Semantic Scholar

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