Marielle E van Gijn

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Marielle E van Gijn, Isabella Ceccherini, Yael Shinar et al. · Journal of Medical Genetics · 2018 · 158 citations · Full text

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Joris M. van Montfrans, Esther A R Hartman, Kees P. J. Braun et al. · Lara D. Veeken · 2016 · 144 citations · Full text

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 · 68 citations · Full text

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers

Riccardo Papa, Marta Rusmini, Stefano Volpi et al. · Lara D. Veeken · 2019 · 66 citations