Mariëlle van Gijn
0000-0002-1073-0539
Publication & Citation Trends
Publications
0 total
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations OA
Cited by 49
Semantic Scholar
Supplementary material : A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T H 17 immunity
Cited by 0
Semantic Scholar
Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees OA
Cited by 28
Semantic Scholar
Primary immunodeficiency (WS-051) Chairpersons: Toshio Miyawaki, Michelle Letarte OA
Cited by 0
Semantic Scholar
A New Pathogenomic Mechanism In FPD/AML by a Constitutional T(16;21) Involving 16p13 ATF7IP2 and 21q22 RUNX1 Loci
Cited by 0
Semantic Scholar
NF1 gene analysis focused on CpG‐rich exons in a cohort of 93 patients with neurofibromatosis type 1 OA
Cited by 12
Semantic Scholar
Research Topics
Immunodeficiency and Autoimmune Disorders
(28)
Genomics and Rare Diseases
(23)
Inflammasome and immune disorders
(20)
Cancer Genomics and Diagnostics
(11)
Genomic variations and chromosomal abnormalities
(10)
Affiliations
University Medical Center Groningen
Radboud University Nijmegen
Inserm
University of Groningen
Utrecht University