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Daniel Nilsson

Karolinska Institutet
Karolinska University Hospital
Science for Life Laboratory

91

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4676

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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

2021 Neurogenetics
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Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.

2021 PLOS ONE
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

2021 Genome Medicine
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Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.

2020 British Journal of Haematology
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pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.

2020 BMC Bioinformatics
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Loqusdb: added value of an observations database of local genomic variation.

2020 BMC Bioinformatics
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Cytogenetically visible inversions are formed by multiple molecular mechanisms.

2020 Human Mutation
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Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

2020 Human Genetics
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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

2019 PLOS Genetics
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Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

2019 PLOS ONE
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