Nelly Burnichon

Paris, France

Last Updated: 09/26/2026

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Found 67 publications

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria.

Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria.

Journal: European journal of human genetics : EJHG

Published: August 18, 2025

French recommendations on multi-gene panel testing in renal cell carcinoma.

French recommendations on multi-gene panel testing in renal cell carcinoma.

Journal: European journal of medical genetics

Published: August 13, 2025

Impact of gender on self-assessment accuracy among fourth-year French medical students on faculty's online Objective Structured Clinical Examinations.

Impact of gender on self-assessment accuracy among fourth-year French medical students on faculty's online Objective Structured Clinical Examinations.

Journal: BMC medical education

Published: September 10, 2024

MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma.

MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma.

Journal: Best practice & research. Clinical endocrinology & metabolism

Published: September 01, 2024

Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes.

Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes.

Journal: Cancer discovery

Published: July 04, 2024

Biomarkers Improving Genetic and Metastatic Disease Prediction in Paraganglioma: Insights From a Prospective Study.

Biomarkers Improving Genetic and Metastatic Disease Prediction in Paraganglioma: Insights From a Prospective Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 31, 2024

Measuring and correcting staff variability in large-scale OSCEs.

Measuring and correcting staff variability in large-scale OSCEs.

Journal: BMC medical education

Published: March 22, 2024

A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.

A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.

Journal: Familial cancer

Published: January 21, 2024

Pancreatic Neuroendocrine Tumors in French VHL Mutation Carriers.

Pancreatic Neuroendocrine Tumors in French VHL Mutation Carriers.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 06, 2024

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.

Journal: Journal of medical genetics

Published: July 31, 2023

Showing 1-12 of 67

Last Updated: 09/26/2026