Articles with public access mandates - I.J. NijmanLearn more
Not available anywhere: 3
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Nature genetics 46 (8), 818-825, 2014
Mandates: European Commission
Single nucleotide polymorphism (SNP) panels for rapid positional cloning in zebrafish
MD Clark, V Guryev, E de Bruijn, IJ Nijman, M Tada, C Wilson, ...
Methods in cell biology 104, 219-235, 2011
Mandates: US National Institutes of Health
Sounding an Alarm over Spatial Biology: Scientists from across the globe highlight spatial biology's triumphs and legal trials while issuing an urgent call for antitrust action
ME Orr, A Kulasinghe, GR Kolar, H Heyn, J Plummer, LS Kristensen, ...
Genetic Engineering & Biotechnology News 44 (3), 16-17, 2024
Mandates: US National Institutes of Health
Available somewhere: 35
Organoid models of human and mouse ductal pancreatic cancer
SF Boj, CI Hwang, LA Baker, IIC Chio, DD Engle, V Corbo, M Jager, ...
Cell 160 (1), 324-338, 2015
Mandates: US Department of Energy, US National Institutes of Health, Wellcome Trust …
A living biobank of breast cancer organoids captures disease heterogeneity
N Sachs, J De Ligt, O Kopper, E Gogola, G Bounova, F Weeber, ...
Cell 172 (1), 373-386. e10, 2018
Mandates: Netherlands Organisation for Scientific Research
Tissue-specific mutation accumulation in human adult stem cells during life
F Blokzijl, J De Ligt, M Jager, V Sasselli, S Roerink, N Sasaki, M Huch, ...
Nature 538 (7624), 260-264, 2016
Mandates: Netherlands Organisation for Scientific Research, Cancer Research UK …
A systematic genome-wide analysis of zebrafish protein-coding gene function
RNW Kettleborough, EM Busch-Nentwich, SA Harvey, CM Dooley, ...
Nature 496 (7446), 494-497, 2013
Mandates: US National Institutes of Health, UK Medical Research Council, Wellcome Trust
Pyrosequencing-based comparative genome analysis of the nosocomial pathogen Enterococcus faecium and identification of a large transferable pathogenicity …
W van Schaik, J Top, DR Riley, J Boekhorst, JEP Vrijenhoek, ...
BMC genomics 11, 1-18, 2010
Mandates: US National Institutes of Health
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
GR Monroe, GW Frederix, S Savelberg, TI De Vries, KJ Duran, ...
Genetics in Medicine 18 (9), 949-956, 2016
Mandates: Wellcome Trust
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies
IJ Nijman, JM van Montfrans, M Hoogstraat, ML Boes, L van de Corput, ...
Journal of Allergy and Clinical Immunology 133 (2), 529-534. e1, 2014
Mandates: German Research Foundation
Loss of syntaxin 3 causes variant microvillus inclusion disease
CL Wiegerinck, AR Janecke, K Schneeberger, GF Vogel, ...
Gastroenterology 147 (1), 65-68. e10, 2014
Mandates: Austrian Science Fund
Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome
HD De Koning, ME Van Gijn, M Stoffels, J Jongekrijg, PLJM Zeeuwen, ...
Journal of Allergy and Clinical Immunology 135 (2), 561-564. e4, 2015
Mandates: Netherlands Organisation for Health Research and Development
The lymphoid lineage–specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells
Y Liang, M Cucchetti, R Roncagalli, T Yokosuka, A Malzac, E Bertosio, ...
Nature immunology 14 (8), 858-866, 2013
Mandates: National Institute of Health and Medical Research, France
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
CGF De Kovel, MH Meisler, EH Brilstra, FMC van Berkestijn, R van‘t Slot, ...
Epilepsy research 108 (9), 1511-1518, 2014
Mandates: US National Institutes of Health
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
JY Hehir-Kwa, T Marschall, WP Kloosterman, LC Francioli, JA Baaijens, ...
Nature communications 7 (1), 12989, 2016
Mandates: US National Institutes of Health, Netherlands Organisation for Scientific …
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
CGF De Kovel, EH Brilstra, MJA van Kempen, R van ‘t Slot, IJ Nijman, ...
Molecular Genetics & Genomic Medicine 4 (5), 568-580, 2016
Mandates: Research Foundation (Flanders)
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
SN Van Der Crabben, MP Hennus, GA McGregor, DI Ritter, ...
The Journal of clinical investigation 126 (8), 2881-2892, 2016
Mandates: US National Institutes of Health, Cancer Research UK, UK Medical Research …
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
M Harakalova, MJ van den Boogaard, R Sinke, S van Lieshout, ...
Journal of medical genetics 49 (8), 539-543, 2012
Mandates: US National Institutes of Health
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
EM Van Leeuwen, LC Karssen, J Deelen, A Isaacs, C Medina-Gomez, ...
Nature communications 6 (1), 6065, 2015
Mandates: US National Institutes of Health, Chief Scientist Office, Scottish Executive …
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
A Kim, C Savary, C Dubourg, W Carré, C Mouden, H Hamdi-Roze, ...
Brain 142 (1), 35-49, 2019
Mandates: Netherlands Organisation for Scientific Research, Agence Nationale de la …
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