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JAMA|March 16, 2016
Incidence, Risk Factors, and Attributable Mortality of Secondary Infections in the Intensive Care Unit After Admission for SepsisLonneke A van Vught, Peter M C Klein Klouwenberg, Cristian Spitoni, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
British Journal of Haematology|November 28, 2008
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL geneEl-Harith Abdelghaffar El-Harith, Cornelia Roesl, Matthias Ballmaier, et al.
Human Mutation|January 30, 2009
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeatsBoi-Dinh Chung, Hülya Kayserili, Minrong Ai, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, et al.
Nature Genetics|May 29, 2012
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiencyEirini Meimaridou, Julia Kowalczyk, Leonardo Guasti, et al.
Human Molecular Genetics|October 10, 2014
CACNA1B mutation is linked to unique myoclonus-dystonia syndromeJustus L Groen, Arturo Andrade, Katja Ritz, et al.
Elife|December 11, 2020
The leukocyte non-coding RNA landscape in critically ill patients with sepsisBrendon P Scicluna, Fabrice Uhel, Lonneke A van Vught, et al.
Critical Care (London, England)|August 7, 2016
Association of diabetes and diabetes treatment with the host response in critically ill sepsis patientsLonneke A van Vught, Brendon P Scicluna, Arie J Hoogendijk, et al.
European Journal of Human Genetics : EJHG|September 3, 2010
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndromeMandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, et al.
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