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Circulating biomarkers for early detection and clinical management of colorectal cancer

Molecular aspects of medicine, 2019-10, Vol.69, p.107-122

2019

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Whole‐genome sequencing of synchronous thyroid carcinomas identifies aberrant DNA repair in thyroid cancer dedifferentiation

The Journal of pathology, 2020-02, Vol.250 (2), p.183-194

2020

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pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

BMC bioinformatics, 2020-04, Vol.21 (1), p.128-12, Article 128

2020

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

PloS one, 2021-02, Vol.16 (2), p.e0245488-e0245488

2021

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SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Journal of bone and mineral research, 2022-02, Vol.37 (2), p.226-235

2022

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Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

Hereditary cancer in clinical practice, 2021-10, Vol.19 (1), p.46-46, Article 46

2021

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Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer

BMC cancer, 2023-08, Vol.23 (1), p.738-738, Article 738

2023

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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

PloS one, 2022-02, Vol.17 (2), p.e0264056-e0264056

2022

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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Journal of human genetics, 2017-04, Vol.62 (4), p.503-506

2017

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Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study

Frontiers in oncology, 2022-07, Vol.12, p.899325-899325

2022

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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Journal of bone and mineral research, 2018-04, Vol.33 (4), p.753-760

2018

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Universal testing in endometrial cancer in Sweden

Hereditary cancer in clinical practice, 2024-08, Vol.22 (1), p.1-9

2024

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Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma

Cancers, 2023-03, Vol.15 (7), p.1972

2023

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Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

Hereditary cancer in clinical practice, 2021-11, Vol.19 (1), p.1-47, Article 47

2021

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A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

Scientific reports, 2021-07, Vol.11 (1), p.14763-14763, Article 14763

2021

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Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer

Cancers, 2023-02, Vol.15 (4), p.1160

2023

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Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm

NPJ precision oncology, 2024-02, Vol.8 (1), p.44-5, Article 44

2024

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Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study

Frontiers in oncology, 2023, Vol.13, p.1176698

2023

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Exome sequencing in 51 early onset non‐familial CRC cases

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e605-n/a

2019

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Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

Hereditary cancer in clinical practice, 2020-09, Vol.18 (1), p.18-13, Article 18

2020

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Antimicrobial protein hCAP18/LL‐37 is highly expressed in breast cancer and is a putative growth factor for epithelial cells

International journal of cancer, 2005-05, Vol.114 (5), p.713-719

2005

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Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53 -Related Cancer Syndrome Study (SWEP53)

Cancers, 2022-01, Vol.14 (2), p.380

2022

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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

Npj genomic medicine, 2023-11, Vol.8 (1), p.39-39, Article 39

2023

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Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53

Hereditary cancer in clinical practice, 2020-01, Vol.18 (1), p.1-1, Article 1

2020

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The expression of VEGF-A is down regulated in peripheral blood mononuclear cells of patients with secondary progressive multiple sclerosis

PloS one, 2011-05, Vol.6 (5), p.e19138-e19138

2011

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Circulating biomarkers for early detection and clinical management of colorectal cancer

Whole‐genome sequencing of synchronous thyroid carcinomas identifies aberrant DNA repair in thyroid cancer dedifferentiation

pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

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

SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Universal testing in endometrial cancer in Sweden

Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma

Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer

Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm

Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study

Exome sequencing in 51 early onset non‐familial CRC cases

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

Antimicrobial protein hCAP18/LL‐37 is highly expressed in breast cancer and is a putative growth factor for epithelial cells

Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53 -Related Cancer Syndrome Study (SWEP53)

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53

The expression of VEGF-A is down regulated in peripheral blood mononuclear cells of patients with secondary progressive multiple sclerosis

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