Concepedia

Marielle E van Gijn

ME

Statistics

Publications

4

Citations

455

H-Index

4

Active since

2016

Affiliations

University Medical Center Groningen(Current)

University Medical Center Utrecht

Istituto Giannina Gaslini

Hacettepe University

Inserm

Marielle E van Gijn is an author at University Medical Center Groningen specializing in genetics, molecular genetics, and genomics.

Publications per year

2016–2020

4

Publications

4

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 · 167 citations · Full text

, , +16

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 · 145 citations · Full text

, , +15

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

, , +17

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 · 68 citations

, , +17

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