Anniek Corveleyn

Leuven, VLG, Belgium

Last Updated: 09/26/2026

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Found 53 publications

Identification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease.

Identification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease.

Journal: Clinical immunology (Orlando, Fla.)
Published: January 16, 2026

TET2-Driver and NLRC4-Passenger Variants in Adult-Onset Autoinflammation.

TET2-Driver and NLRC4-Passenger Variants in Adult-Onset Autoinflammation.

Journal: The New England journal of medicine
Published: April 26, 2023

Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Journal: European journal of human genetics : EJHG
Published: January 31, 2023

Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI.

Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI.

Journal: European journal of human genetics : EJHG
Published: October 11, 2022

Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.

Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.

Journal: Journal of thrombosis and haemostasis : JTH
Published: September 23, 2022

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.

Journal: The Journal of clinical investigation
Published: September 06, 2022

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.

Journal: Frontiers in immunology
Published: June 20, 2022

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Journal: Nature genetics
Published: April 27, 2022

Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation.

Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation.

Journal: Neurology
Published: March 18, 2022

Guidelines for Genetic Testing and Management of Alport Syndrome.

Guidelines for Genetic Testing and Management of Alport Syndrome.

Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: December 21, 2021

Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis.

Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis.

Journal: Case reports in immunology
Published: September 16, 2021

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.

Journal: JMIR medical informatics
Published: March 09, 2021
Showing 1-12 of 53

Last Updated: 09/26/2026