Anniek Corveleyn

Centre For Human Genetics — India

Medicine · Health Sciences

24h-index3.3kcitations131works7.02yr avg
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Research Topics

Cardiomyopathy and Myosin Studies(23), Genomics and Rare Diseases(19), Cardiac electrophysiology and arrhythmias(17), RNA modifications and cancer(11), Immunodeficiency and Autoimmune Disorders(10)

Publications131 total

Identification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease
Clinical Immunology·2026
Genetic and clinical characteristics of familial pulmonary fibrosis patients and relatives
2025
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
Journal of Clinical Investigation·2024· 21 citedOpen Access
Screening of first-degree relatives of IPF patients with a telomere-related gene mutation
2023
<i>TET2</i> -Driver and <i>NLRC4</i> -Passenger Variants in Adult-Onset Autoinflammation
New England Journal of Medicine·2023· 21 citedOpen Access
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI
European Journal of Human Genetics·2023· 12 citedOpen Access
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
European Journal of Human Genetics·2023· 2 citedOpen Access
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
Journal of Thrombosis and Haemostasis·2023· 21 citedOpen Access
Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations
Frontiers in Immunology·2022· 5 citedOpen Access
Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation
Neurology·2022· 16 citedOpen Access
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Nature Genetics·2022· 3 citedOpen Access
A Novel Kindred with MyD88 Deficiency
Journal of Clinical Immunology·2022· 11 citedOpen Access
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Nature Genetics·2022· 137 citedOpen Access
Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia
Journal of Clinical Immunology·2021· 7 citedOpen Access
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers
JMIR Medical Informatics·2021· 1 citedOpen Access
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
European Journal of Human Genetics·2021· 117 citedOpen Access
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers (Preprint)
2021Open Access
Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
Journal of Clinical Immunology·2020· 6 citedOpen Access
Clinical characterization of the first Belgian <i>SCN5A</i> founder mutation cohort
EP Europace·2020· 6 citedOpen Access
Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature
Frontiers in Immunology·2020· 50 citedOpen Access
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Frequent Co-authors

Jeroen Breckpot(13), Isabelle Meyts(11), Koenraad Devriendt(11), Tomas Robyns(9), Rik Willems(7), Gert Matthijs(6), Leen Moens(6), Cuno Kuipéri(6), Erika Souche(5), Rik Schrijvers(5), Marc Gewillig(5), Giorgia Bucciol(5), Xavier Bossuyt(5), Dieter Nuyens(5), Valérie Race(4), Johan Saenen(4), Jacoba Louw(4), Yaojuan Jia(4), Thomy de Ravel(4), Johan Van Cleemput(4)