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Cell‐free tumour DNA testing for early detection of cancer – a potential future tool

Journal of internal medicine, 2019-08, Vol.286 (2), p.118-136

2019

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From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, Vol.27, p.1666

2019

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Vitamin D levels and atopic eczema in infancy and early childhood in Norway: a cohort study

British journal of dermatology (1951), 2016-07, Vol.175 (1), p.95-101

2016

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Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching

EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, Vol.26, p.60

2018

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Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis

British journal of dermatology (1951), 2011-11, Vol.165 (5), p.1074-1080

2011

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Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema

Allergy, 2009-02, Vol.64 (2), p.304-311

2009

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

PloS one, 2019, Vol.14 (1), p.e0210017-e0210017

2019

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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

PLoS genetics, 2018-11, Vol.14 (11), p.e1007780-e1007780

2018

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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Genetics in medicine, 2021-02, Vol.23 (2), p.374-383

2021

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Prognosis of Preschool Eczema and Factors of Importance for Remission

Acta dermato-venereologica, 2018, Vol.98 (7), p.630-635

2018

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Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

Journal of allergy and clinical immunology, 2015-08, Vol.136 (2), p.507-509.e19

2015

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Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3083-3087

2014

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Lack of association between filaggrin gene mutations and onset of psoriasis in childhood

Journal of the European Academy of Dermatology and Venereology, 2013-01, Vol.27 (1), p.e124-e127

2013

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Genetic Variation in the Inflammasome and Atopic Dermatitis Susceptibility

Journal of investigative dermatology, 2013-10, Vol.133 (10), p.2486-2489

2013

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

International journal of molecular sciences, 2022-07, Vol.23 (14), p.8001

2022

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SizeMatters: a novel algorithm for fetal-fraction estimation based on fragment-size distributions

EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, Vol.31, p.348

2023

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Skin Barrier Function and Staphylococcus aureus Colonization in Vestibulum Nasi and Fauces in Healthy Infants and Infants with Eczema: A Population-Based Cohort Study

PloS one, 2015-06, Vol.10 (6), p.e0130145-e0130145

2015

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Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema (vol 64, pg 304, 2009)

ALLERGY, 2009, Vol.64 (4), p.667

2009

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Association of a Tagging Single Nucleotide Polymorphism in the Androgen Receptor Gene Region with Susceptibility to Severe Hypospadias in a Caucasian Population

Sexual development, 2013-01, Vol.7 (4), p.173-179

2013

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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

American journal of human genetics, 2016-02, Vol.98 (2), p.363-372

2016

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Deletion of Wiskott–Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells

Nature communications, 2016-07, Vol.7 (1), p.12175-15, Article 12175

2016

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Cell‐free tumour DNA testing for early detection of cancer – a potential future tool

From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

Vitamin D levels and atopic eczema in infancy and early childhood in Norway: a cohort study

Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis

Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

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

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

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Prognosis of Preschool Eczema and Factors of Importance for Remission

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome

Lack of association between filaggrin gene mutations and onset of psoriasis in childhood

Genetic Variation in the Inflammasome and Atopic Dermatitis Susceptibility

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

SizeMatters: a novel algorithm for fetal-fraction estimation based on fragment-size distributions

Skin Barrier Function and Staphylococcus aureus Colonization in Vestibulum Nasi and Fauces in Healthy Infants and Infants with Eczema: A Population-Based Cohort Study

Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema (vol 64, pg 304, 2009)

Association of a Tagging Single Nucleotide Polymorphism in the Androgen Receptor Gene Region with Susceptibility to Severe Hypospadias in a Caucasian Population

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Deletion of Wiskott–Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells

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