Articles with public access mandates - Lennart JohanssonLearn more
Available somewhere: 20
CoNVaDING: single exon variation detection in targeted NGS data
LF Johansson, F van Dijk, EN de Boer, KK van Dijk‐Bos, JDH Jongbloed, ...
Human mutation 37 (5), 457-464, 2016
Mandates: Dutch Heart Foundation
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ...
European Journal of Human Genetics 29 (9), 1325-1331, 2021
Mandates: Department of Science & Technology, India, UK Medical Research Council …
Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC
J Wei, P Meng, MM Terpstra, A van Rijk, M Tamminga, F Scherpen, ...
Targeted oncology 16, 215-226, 2021
Mandates: Dutch Cancer Society
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
MZ Alimohamed, LF Johansson, A Posafalvi, LG Boven, KK van Dijk, ...
International Journal of Cardiology 332, 99-104, 2021
Mandates: Dutch Heart Foundation
Ten quick tips for building FAIR workflows
C de Visser, LF Johansson, P Kulkarni, H Mei, P Neerincx, ...
PLoS Computational Biology 19 (9), e1011369, 2023
Mandates: Netherlands Organisation for Scientific Research, European Commission
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
LF Johansson, HA de Weerd, EN de Boer, F van Dijk, GJ Te Meerman, ...
BMC bioinformatics 19, 1-5, 2018
Mandates: Netherlands Organisation for Scientific Research, Dutch Heart Foundation
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R Schüle, D Timmann, CE Erasmus, J Reichbauer, M Wayand, ...
European Journal of Human Genetics 29 (9), 1332-1336, 2021
Mandates: US National Institutes of Health, National Institute of Health and Medical …
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ...
Genetics in Medicine 25 (4), 100018, 2023
Mandates: UK Medical Research Council, European Commission, Government of Spain
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies–RANKING
K de Lange, EN de Boer, A Bosga, MZ Alimohamed, LF Johansson, ...
Clinical Chemistry 66 (12), 1521-1530, 2020
Mandates: Netherlands Organisation for Health Research and Development
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching
W Maassen, G Legger, O Kul Cinar, P van Daele, M Gattorno, ...
Frontiers in Immunology 14, 1215869, 2023
Mandates: Versus Arthritis, UK
A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature
KJ van der Velde, S van den Hoek, F van Dijk, D Hendriksen, ...
Advanced Genetics 1 (1), e10023, 2020
Mandates: Netherlands Organisation for Scientific Research, European Commission …
Genetic screening test to detect translocations in acute leukemias by use of targeted locus amplification
MZ Alimohamed, LF Johansson, EN de Boer, E Splinter, P Klous, ...
Clinical Chemistry 64 (7), 1096-1103, 2018
Mandates: Netherlands Organisation for Health Research and Development
Low detection rates of genetic FH in cohort of patients with severe hypercholesterolemia in the united Arabic emirates
A Rimbert, H Daggag, P Lansberg, A Buckley, M Viel, R Kanninga, ...
Frontiers in genetics 12, 809256, 2022
Mandates: Netherlands Organisation for Health Research and Development, Royal …
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
G Kiewiet, D Westra, EN de Boer, E van Berkel, TGJ Hofste, ...
International journal of neonatal screening 10 (1), 20, 2024
Mandates: Netherlands Organisation for Health Research and Development
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
A Jackson, SJ Lin, EA Jones, KE Chandler, D Orr, C Moss, Z Haider, ...
Human Genetics and Genomics Advances 4 (2), 2023
Mandates: Cancer Research UK, UK Medical Research Council, National Institute for …
MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysis
WTK Maassen, LF Johansson, B Charbon, D Hendriksen, ...
medRxiv, 2024.04. 11.24305656, 2024
Mandates: Netherlands Organisation for Scientific Research, European Commission
Low-cost generation of clinical-grade layperson-friendly pharmacogenetic passports using oligonucleotide arrays
P Lanting, R Warmerdam, J Slager, H Brugge, T Ochi, M Benjamins, ...
medRxiv, 2024.08. 28.24312707, 2024
Mandates: Netherlands Organisation for Scientific Research, European Commission …
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
G Demidov, B Yaldiz, J Garcia-Pelaez, E de Boer, N Schuermans, ...
medRxiv, 2023.10. 22.23296993, 2023
Mandates: European Commission
A unified data infrastructure to support large-scale rare disease research
LF Johansson, S Laurie, D Spalding, S Gibson, D Ruvolo, C Thomas, ...
medRxiv, 2023.12. 20.23299950, 2023
Mandates: Netherlands Organisation for Scientific Research, European Commission
Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo
B Sikkema-Raddatz, LF Johansson, EN de Boer, R Almomani, LG Boven, ...
Acta Neuropathol 125, 77e93, 2013
Mandates: US National Institutes of Health
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