Dr. L.T.J.N. van der Veken
Dr. L.T.J.N. van der Veken
Aandachtsgebiedenuitklapper, klik om te openen
• Genetica van auto-inflammatoire ziektes en primaire immuundeficiënties.
• Genetica van beenmergfalen en Diamond-Blackfan anemie.
• Hemato-oncologische (cyto)genetische diagnostiek.
Afdeling/polikliniek
Genoomdiagnostiek, afdeling Genetica
Lid van:
Wetenschappelijk onderzoekuitklapper, klik om te openen
Constitutionele en somatische (structurele) genoomafwijkingen
Publicatiesuitklapper, klik om te openen
- Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium.
Front Immunol. 2021 Dec 21;12:780134. PMID: 34992599
- Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A.
J Allergy Clin Immunol. 2022 Jan;149(1):432-439.e4. PMID: 34048852
- National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink K, Huibers MMH, Hollink IHIM, van der Veken LT, Ernst RF, Simons A, Zonneveld-Huijssoon E, van der Hout AH, Abbott KM, Hoischen A, Pieterse M, Kuijpers TW, van Montfrans JM, van Gijn ME.
Eur J Hum Genet. 2021 Jan;29(1):20-28. PMID: 32733070 Free PMC article.
- Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' MECOM.
Van der Veken LT, Maiburg MC, Groenendaal F, van Gijn ME, Bloem AC, Erpelinck C, Gröschel S, Sanders MA, Delwel R, Bierings MB, Buijs A.
Hiemcke-Jiwa LS, Leguit RJ, van der Veken LT, Buijs A, Leeuwis JW, de Boer M, Jiwa NM, Bloem AC, Petersen EJ, de Weger RA, Huibers MMH. Lymphoblastic lymphoma with a triple-hit profile: a rare but distinct and relevant entity.
Hum Pathol. 2017 May;63:171-176. PMID: 27867103
- Lymphoblastic lymphoma with a triple-hit profile: a rare but distinct and relevant entity.
Hiemcke-Jiwa LS, Leguit RJ, van der Veken LT, Buijs A, Leeuwis JW, de Boer M, Jiwa NM, Bloem AC, Petersen EJ, de Weger RA, Huibers MMH.
Hum Pathol. 2017 May;63:171-176. PMID: 27867103
- De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.
Lo-A-Njoe S, van der Veken LT, Vermont C, Rafael-Croes L, Keizer V, Hochstenbach R, Knoers N, van Haelst MM.
Case Rep Genet. 2016;2016:2861653. PMID: 26942023
- Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.
De Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP.
Am J Hum Genet. 2015 Apr 2;96(4):651-6. PMID: 2579910
- Array CGH in human leukemia: from somatics to genetics.
Van der Veken LT, Buijs A.
Cytogenet Genome Res. 2011;135(3-4):260-70. PMID: 21893961.