L. Johansson

发表

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

M. Swertz, R. Sinke, F. Dijk, 2016, Human mutation.

Targeted Next‐Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

R. Sinke, R. Sijmons, R. Almomani, 2013, Human mutation.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Edwin Cuppen, Marcel Nelen, Wilfred F J van IJcken, 2015, European Journal of Human Genetics.

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.

R. Sinke, R. Sijmons, B. Sikkema-Raddatz, 2021, International journal of cardiology.

Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC

H. Groen, K. Kok, A. van den Berg, 2021, Targeted Oncology.

Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification.

E. van den Berg, R. Sinke, E. Vellenga, 2018, Clinical chemistry.

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

K. Lyle, I. V. van Langen, A. Lucassen, 2019, BMC Medical Genomics.

Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.

Cleo C. van Diemen, E. van den Berg, C. V. van Diemen, 2020, Clinical chemistry.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

M. Swertz, R. Sinke, B. Alizadeh, 2015, BMC Medical Genomics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

Cleo C. van Diemen, Birgit Sikkema-Raddatz, Kristin M. Abbott, 2019, Advanced genetics.

Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing

M. Swertz, R. Sinke, F. van Dijk, 2017, Scientific Reports.

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

M. Swertz, R. Sinke, M. Dijkstra, 2016, Scientific Reports.

Successful noninvasive trisomy 18 detection using single molecule sequencing.

R. Sinke, E. Bakker, B. Sikkema-Raddatz, 2013, Clinical chemistry.

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

Thomas M. Keane, Victoria Dominguez Del Angel, Irina M. Armean, 2020, F1000Research.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA

Cleo C. van Diemen, C. V. van Diemen, H. Haisma, 2019, Gene Therapy.

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates

R. Sinke, J. Kuivenhoven, R. Dullaart, 2022, Frontiers in Genetics.

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

Eddy N. de Boer, Birgit Sikkema-Raddatz, Morris A. Swertz, 2018, BMC Bioinformatics.

Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.

E. van den Berg, E. Vellenga, Patrick Deelen, 2020, Clinical chemistry.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

J. Veltman, E. Cuppen, R. Hennekam, 2015, European Journal of Human Genetics.

Title: Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics Running head: Cas9-directed LRS to resolve OGM findings

N. Knoers, C. V. Diemen, B. Sikkema-Raddatz, 2023 .

Unravelling the genetic basis of hereditary disorders by high-throughput exome sequencing strategies

Birgit, M. Swertz, R. Sinke, 2016 .

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

L. Vissers, A. Hoischen, C. Gilissen, 2023, medRxiv.

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

M. Swertz, R. Sinke, F. Dijk, 2016, Human mutation.

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

Cleo C. van Diemen, N. Knoers, L. Johansson, 2023, bioRxiv.

University of Groningen Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

R. Sinke, R. Sijmons, R. Almomani, 2017 .