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Sensitive detection of mitochondrial DNA variants for analysis of mitochondrial DNA-enriched extracts from frozen tumor tissue

Scientific reports, 2018-02, Vol.8 (1), p.2261-12, Article 2261

2018

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Employed family-based genetic discovery combining linkage analysis and exome sequencing to identify RCL1 as a novel candidate gene for depression, with independent replication in a population-based cohort

Molecular psychiatry, 2018-05, Vol.23 (5), p.1093-1093

2018

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NARWHAL, a primary analysis pipeline for NGS data

Bioinformatics, 2012-01, Vol.28 (2), p.284-285

2012

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A rare missense variant in RCL1 segregates with depression in extended families

Molecular psychiatry, 2018-05, Vol.23 (5), p.1120-1126

2018

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Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning

Journal of inherited metabolic disease, 2024-07, Vol.47 (4), p.716-730

2024

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Effects of Freeze-Thawing and Intravenous Infusion on Mesenchymal Stromal Cell Gene Expression

Stem cells and development, 2016-04, Vol.25 (8), p.586

2016

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Duration of preclinical, prodromal, and dementia stages of Alzheimer's disease in relation to age, sex, and APOE genotype

Alzheimer's & dementia, 2019-07, Vol.15 (7), p.888-898

2019

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Cost-Effectiveness of Performing Reference Ultrasonography in Patients with Deep Vein Thrombosis

Thrombosis and haemostasis, 2024-06, Vol.124 (6), p.557

2024

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Nonsynonymous Variation in NKPD1 Increases Depressive Symptoms in the European Populations

Biological psychiatry (1969), 2017-04, Vol.81 (8), p.702-707

2017

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New possibilities for ST analysis – A post-hoc analysis on the Dutch STAN RCT

Early human development, 2022-03, Vol.166, p.105537-105537, Article 105537

2022

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Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age

Human molecular genetics, 2014-03, Vol.23 (5), p.1320-1332

2014

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Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length

Frontiers in genetics, 2020-04, Vol.11, p.337-337

2020

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Risk estimations and treatment decisions in early stage breast cancer: Agreement among oncologists and the impact of the 70-gene signature

European journal of cancer (1990), 2014-04, Vol.50 (6), p.1045-1054

2014

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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Genome Biology, 2017-03, Vol.18 (1), p.48-48, Article 48

2017

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A multi-component cognitive behavioural intervention for the treatment of fear of falling after hip fracture (FIT-HIP): protocol of a randomised controlled trial

BMC geriatrics, 2017-03, Vol.17 (1), p.71-71, Article 71

2017

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

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1142-1150

2015

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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Breast cancer research : BCR, 2016-02, Vol.18 (1), p.15-15, Article 15

2016

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Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1403-1410

2013

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Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness

Frontiers in genetics, 2018-10, Vol.9, p.420-420

2018

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Exome-Wide Meta-Analysis Identifies Rare 3'-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea

Frontiers in genetics, 2017-10, Vol.8, p.151-151

2017

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Sensitive detection of mitochondrial DNA variants for analysis of mitochondrial DNA-enriched extracts from frozen tumor tissue

Employed family-based genetic discovery combining linkage analysis and exome sequencing to identify RCL1 as a novel candidate gene for depression, with independent replication in a population-based cohort

NARWHAL, a primary analysis pipeline for NGS data

A rare missense variant in RCL1 segregates with depression in extended families

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning

Effects of Freeze-Thawing and Intravenous Infusion on Mesenchymal Stromal Cell Gene Expression

Duration of preclinical, prodromal, and dementia stages of Alzheimer's disease in relation to age, sex, and APOE genotype

Cost-Effectiveness of Performing Reference Ultrasonography in Patients with Deep Vein Thrombosis

CABA-V7: a prospective biomarker selected trial of cabazitaxel treatment in AR-V7 positive prostate cancer patients

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

The eHealth self-management application 'Oncokompas' that supports cancer survivors to improve health-related quality of life and reduce symptoms: which groups benefit most?

Nonsynonymous Variation in NKPD1 Increases Depressive Symptoms in the European Populations

Cost-utility of an eHealth application ‘Oncokompas’ that supports cancer survivors in self-management: results of a randomised controlled trial

New possibilities for ST analysis – A post-hoc analysis on the Dutch STAN RCT

PLD3 variants in population studies

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age

Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length

Risk estimations and treatment decisions in early stage breast cancer: Agreement among oncologists and the impact of the 70-gene signature

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

A multi-component cognitive behavioural intervention for the treatment of fear of falling after hip fracture (FIT-HIP): protocol of a randomised controlled trial

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

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness

Exome-Wide Meta-Analysis Identifies Rare 3'-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea

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