dr. L.T.J.N. (Lars) van der Veken
Researcher/Postdoc
- Section genome diagnostics
Research Output (30)
Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3’ MECOM
van der Veken Lars T., Maiburg Merel C., Groenendaal Floris, van Gijn Mariëlle E., Bloem Andries C., Erpelinck Claudia, Gröschel Stefan, Sanders Mathijs A., Delwel Ruud, Bierings Marc B., Buijs Arjan 8 feb 2018, In: Haematologica. 103 , p. e173-e176
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
Loviglio Maria Nicla, Arbogast Thomas, Jønch Aia Elise, Collins Stephan C., Popadin Konstantin, Bonnet Camille S., Giannuzzi Giuliana, Maillard Anne M., Jacquemont Sébastien, Loviglio Maria Nicla, Jønch Aia Elise, Popadin Konstantin, Giannuzzi Giuliana, Maillard Anne M., Fagerberg Christina, Andersen Charlotte Brasch, Doco-Fenzy Martine, Delrue Marie-Ange, Faivre Laurence, Arveiler Benoit, Geneviève David, Schneider Anouck, Gerard Marion, Andrieux Joris, El Chehadeh Salima, Schaefer Elise, Depienne Christel, Van Haelst Mieke, Brilstra Eva H., Van Binsbergen Ellen, van Harssel Jeske, van der Veken Lars T., Gusella James F, Shen Yiping, Mitchell Elyse, Kini Usha, Hawkes Lara, Campbell Carolyn, Butschi Florence Niel, Addor Marie Claude, Beckmann Jacques S., Jacquemont Sébastien, Reymond Alexandre, Yalcin Binnaz, Katsanis Nicholas, Golzio Christelle, Reymond Alexandre, 5 okt 2017, In: American Journal of Human Genetics. 101 , p. 564-577 14 p.
Lymphoblastic lymphoma with a triple-hit profile:a rare but distinct and relevant entity
Hiemcke-Jiwa Laura S., Leguit RJ, van der Veken Lars T., Buijs A, Leeuwis JW, de Boer Mirthe, Jiwa Mehdi, Bloem AC, Clevers-Petersen E.J., de Weger Roel A., Huibers Manon M.H. mei 2017, In: Human Pathology. 63 , p. 171-176 6 p.
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
Monroe Glen R, Kappen Isabelle Fpm, Stokman Marijn F, Terhal Paulien A, van den Boogaard Marie-José H, Savelberg Sanne Mc, van der Veken Lars T, van Es Robert J J, Lens Susanne M, Hengeveld Rutger C, Creton Marijn A, Janssen Nard G, Mink van der Molen Aebele B, Ebbeling Michelle B, Giles Rachel H, Knoers Nine V, van Haaften Gijs 17 aug 2016, In: European Journal of Human Genetics. 24 , p. 1752–1760
Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts:Is It Causally Related to Penoscrotal Hypospadias
Giltay Jacques C., Klijn Aart J., de Jong Tom P V M, Kats Peter, van Breugel Marjolein, Lens Susan, Vromans Martijn, Van Der Veken Lars T., Hochstenbach Ron 1 jul 2016, In: Molecular Syndromology. 7 , p. 153-159 7 p.
An unique case of a mosaic genome-wide uniparental isodisomy in a newborn with Beckwith-Wiedemann syndrome
van der Veken LTJN, Hochstenbach PFR, Verrijn Stuart AA, Giltay JC, Hopman SMJ 5 apr 2016,
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
Lo-A-Njoe Shirley, van der Veken Lars T, Vermont Clementien, Rafael-Croes Louise, Keizer Vincent, Hochstenbach Ron, Knoers Nine, van Haelst Mieke M 6 jan 2016, In: Case reports in genetics. 2016 , p. 1-5
An unique case of a mosaic genome-wide uniparental isodisomy in a newborn with Beckwith-Wiedemann syndrome
van der Veken LTJN, Hochstenbach P., Verrijn Stuart AA, Giltay JC, Hopman SMJ 2016,
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring
de Pagter MS, van Roosmalen Markus J., Baas AF, Renkens Ivo, Duran KJ, van Binsbergen E, Tavakoli-Yaraki Masoumeh, Hochstenbach PFR, van der Veken LTJN, Cuppen EPJG, Kloosterman WP 8 jun 2015,
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring
de Pagter MS, van Roosmalen Markus J., Baas AF, Renkens Ivo, Duran KJ, van Binsbergen E, Tavakoli-Yaraki Masoumeh, Hochstenbach PFR, van der Veken LTJN, Cuppen EPJG, Kloosterman WP 22 apr 2015,