Guilaine Boursier

Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients*

Sophie Georgin‐Lavialle, Benjamin Terrier, Alexis F. Guédon et al. · British Journal of Dermatology · 2021 · 417 citations · Full text

Medicine, Hematology, Pathology +16

Relevance of Aβ42/40 Ratio for Detection of Alzheimer Disease Pathology in Clinical Routine: The PLMR Scale

Sylvain Lehmann, Constance Delaby, Guilaine Boursier et al. · Frontiers in Aging Neuroscience · 2018 · 95 citations · Full text

Medicine, Neurology, Neuroscience +17

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Mélanie Rama, Claire Duflos, Isabelle Melki et al. · European Journal of Human Genetics · 2018 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

Yael Shinar, Isabella Ceccherini, Dorota Rowczenio et al. · Clinical Chemistry · 2020 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants

Shouya Feng, Matthew C Wierzbowski, Katja Hrovat-Schaale et al. · Nature Immunology · 2025 · 70 citations · Full text

Life Sciences, Immunology, Molecular Biology +17