Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
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npj Genomic Medicine, 2024, vol. 9
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort
Marie Valérie E Andriessen, G Elizabeth Legger, Robbert G M Bredius, Marielle E van Gijn, A Elisabeth Hak, Petra C E Hissink Muller, Sylvia Kamphuis, Femke C C Klouwer, Taco W Kuijpers, Helen L Leavis, Stefan Nierkens, Abraham Rutgers, Lars T van der Veken, Gijs T J van Well, Catharina M Mulders-Manders, Joris M van Montfrans
Journal of Clinical Immunology, 2023, vol. 43, p.1581-1596
A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs
Wouter J Venema, Sanne Hiddingh, Jorg van Loosdregt, John Bowes, Brunilda Balliu, Joke H de Boer, Jeannette Ossewaarde-van Norel, Susan D Thompson, Carl D Langefeld, Aafke de Ligt, Lars T van der Veken, Peter H L Krijger, Wouter de Laat, Jonas J W Kuiper
Cell genomics, 2023, vol. 4
Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development
Bas M. Smits, Taila Hartley, Ester Dünnebach, Marije Bartels, Kim M. Boycott, Kirstin D. Kernohan, David A. Dyment, Jacques C. Giltay, Elie Haddad, Olga Jarinova, Joris Van Montfrans, Annet Van Royen-Kerkhof, Lars T. Van Der Veken, Moniek De Witte, Stefan Nierkens, Anne Pham-Huy, Helen L. Leavis
HemaSphere, 2022, vol. 6, p.E774