List of works - Robert M Verdijk

A Comprehensive Analysis of Ontogeny of Renal Drug Transporters: mRNA Analyses, Quantitative Proteomics, and Localization

scientific article published on 03 July 2019

A Patient with Autoimmune Pancreatitis Type 1 with Previously Known Lymphadenopathy, Both in the Context of IgG4-related Disease

scientific article published on 5 November 2015

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

article

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

scientific article

Aberrant MicroRNA Expression and Its Implications for Uveal Melanoma Metastasis

scientific article published on 12 June 2019

Absence of Intraocular Lymphatic Vessels in Uveal Melanomas with Extrascleral Growth

scientific article published on 15 February 2019

Abstract 4433: Deregulated microRNAs in NF1 derived malignant peripheral nerve sheath tumors (MPNST) and their role in carcinogenesis

Accelerated growth of orbital schwannomas during pregnancy does not correlate with sex hormone- or growth factor receptor status

scientific article published on 08 April 2020

An inflammatory condition with different faces: immunoglobulin G4-related disease

scientific article published on March 2016

An update of ocular adnexal lymphomas

Anti-LGI1 encephalitis is strongly associated with HLA-DR7 and HLA-DRB4.

scientific article published on 27 December 2016

Apparent Lack of BRAF V600E Derived HLA Class I Presented Neoantigens Hampers Neoplastic Cell Targeting by CD8+ T Cells in Langerhans Cell Histiocytosis

scientific article published on 01 January 2019

Aqueous Humor Biomarkers Identify Three Prognostic Groups in Uveal Melanoma

scientific article published on 01 November 2019

Atypical Presentation of Iridocorneal Endothelial Syndrome With Band Keratopathy but No Corneal Edema Managed With Descemet Membrane Endothelial Keratoplasty

scientific article published on 17 April 2018

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

scientific article published on 11 March 2013

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

scientific article published in February 2016

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

scientific article published on 28 August 2019

Biopsy-proven recurrence of unilateral IgG4-related orbital inflammation after 20 years

scientific article published on 9 June 2014

Blinded by shiga toxin-producing O104 Escherichia coli and hemolytic uremic syndrome.

scientific article

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

scientific article published on 23 January 2013

Case report: a fatal combination of hemophagocytic lymphohistiocytosis with extensive pulmonary microvascular damage in COVID-19 pneumonia

scientific article published on 23 October 2020

Chemokine Receptor Expression Pattern Correlates to Progression of Conjunctival Melanocytic Lesions

scientific article published on 01 July 2019

Chemokine receptor CCR7 expression predicts poor outcome in uveal melanoma and relates to liver metastasis whereas expression of CXCR4 is not of clinical relevance.

scientific article published on 8 November 2013

Clinical evaluation of a dedicated next generation sequencing panel for routine glioma diagnostics

article

Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma.

scientific article published on 14 March 2014

Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.

scientific article published on 12 January 2018

Correlation of Gene Mutation Status with Copy Number Profile in Uveal Melanoma

article

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

scientific article published on 01 March 2019

Deregulated microRNAs in neurofibromatosis type 1 derived malignant peripheral nerve sheath tumors

scientific article published on 19 February 2020

Developmental patterns in human blood-brain barrier and blood-cerebrospinal fluid barrier ABC drug transporter expression

scientific article published on 24 May 2020

Diagnosing Chronic Lymphocytic Leukemia With Temporal Artery Biopsy

scientific article published on 01 June 2017

Distinctive cytokines as biomarkers predicting fatal outcome of severe Staphylococcus aureus bacteremia in mice

scientific article

Elevated Expression of the Cerebrospinal Fluid Disease Markers Chromogranin A and Clusterin in Astrocytes of Multiple Sclerosis White Matter Lesions

scientific article published on 18 December 2015

Endophthalmitis after strabismus surgery: incidence and outcome in relation to age, operated eye muscle, surgical technique, scleral perforation and immune state

scientific article published on 13 June 2020

Epibulbar osseous choristoma: a photo essay case report.

scientific article published on 27 March 2018

Escherichia coli-nitroreductase suicide gene control of human telomerase reverse transcriptase-transduced minor histocompatibility antigen-specific cytotoxic T cells

scientific article published in May 2004

Evidence for influenza virus CNS invasion along the olfactory route in an immunocompromised infant.

scientific article published on 18 February 2014

Exclusive TCRVβ chain usage of ex vivo generated minor Histocompatibility antigen HA-1 specific cytotoxic T cells: implications for monitoring of immunotherapy of leukemia by TCRBV spectratyping

scientific article published on 01 January 2002

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.

scientific article published on 22 October 2013

Expansion of blood IgG4+ B, TH2, and regulatory T cells in patients with IgG4-related disease

scientific article published on 19 August 2017

Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors.

scientific article

Extramedullary Hematopoiesis in Abusive Head Trauma

Fatal Balamuthia mandrillaris Meningoencephalitis in the Netherlands after Travel to The Gambia.

scientific article published on May 2015

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

scientific article published in April 2009

GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi

scientific article

Genetic Background of Iris Melanomas and Iris Melanocytic Tumors of Uncertain Malignant Potential

scientific article published on 19 January 2018

Genetic evolution of uveal melanoma guides the development of an inflammatory microenvironment

scientific article

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing

scientific article published on 30 December 2020

Genome-wide aberrant methylation in primary metastatic UM and their matched metastases

scientific article published on 07 January 2022

HDAC Inhibition Increases HLA Class I Expression in Uveal Melanoma

scientific article published on 09 December 2020

High Levels of Neutrophil Extracellular Traps Persist in the Lower Respiratory Tract of Critically Ill Patients With Coronavirus Disease 2019

scholarly article

Higher Percentage of FISH-Determined Monosomy 3 and 8q Amplification in Uveal Melanoma Cells relate to Poor Patient Prognosis

scientific article published on 14 May 2012

Histopathologic Features of Descemet Membrane Endothelial Keratoplasty Graft Remnants, Folds, and Detachments

scientific article published on 21 September 2016

Histopathologic, Immunohistochemical, Ultrastructural, and Cytogenetic Analysis of Oncocytic Uveal Melanoma

scientific article published on 01 November 2011

Histopathologic, immunohistochemical, and cytogenetic analysis of primary clear cell melanoma of the uvea.

scientific article published in June 2013

Histopathological and Molecular Features of a Conjunctival Caruncular Deep Penetrating Nevus

scientific article published on 28 January 2020

Histopathology of Failed Descemet Membrane Endothelial Transfer

scientific article

IgG4-Related Disease of Skull Base: Case Series of 3 Patients with Headache

scientific article published on 11 November 2019

IgG4-related disease as an emerging cause of scleritis

scientific article published on 22 February 2017

IgG4-related disease: a systematic review of this unrecognized disease in pediatrics

scientific article

Ileocolic intussusception as the presenting symptom of primary enteric varicella-zoster virus infection in a 7-month old infant

scientific article published on 31 March 2020

Infliximab for IgG4-Related Orbital Disease

scientific article published on 18 January 2016

Intra-ocular diathermy forceps

scientific article published on 2 December 2017

Intracranial actinomycosis of odontogenic origin masquerading as auto-immune orbital myositis: a fatal case and review of the literature

scientific article published on 02 September 2019

Ischemia Is Related to Tumour Genetics in Uveal Melanoma

scientific article published on 18 July 2019

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

scientific article

Lipomatous Change in Uveal Melanoma: Histopathological, Immunohistochemical and Cytogenetic Analysis

scientific article published on 20 November 2015

Lymphoproliferative Tumors of the Ocular Adnexa

scientific article published on March 2017

Malignant pleural mesothelioma with lacrimal gland metastasis

scientific article

Management of cerebral azole-resistant A. fumigatus infection. A role for intraventricular liposomal-amphotericin B?

scientific article published on 03 April 2020

Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated WithBAP1Mutations

scientific article published on 01 April 2016

Metastatic disease in uveal melanoma: importance of a genetic profile?

scientific article

MicroRNA Profiling in Benign and Malignant Conjunctival Melanocytic Lesions

scientific article published on 12 October 2019

Miscarriage Associated with Zika Virus Infection

scientific article

Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients

scientific article published on 01 August 2019

Multiplex ligation-dependent probe amplification equals fluorescence in-situ hybridization for the identification of patients at risk for metastatic disease in uveal melanoma

scientific article published in February 2012

Neutrophil extracellular traps persist at high levels in the lower respiratory tract of critically ill COVID-19 patients

scholarly article

No evidence of varicella-zoster virus infection in temporal artery biopsies of anterior ischemic optic neuropathy patients with and without giant cell arteritis

scientific article published on 09 September 2020

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

scientific article published on 12 April 2013

On the Classification and Grading of Medulloepithelioma of the Eye.

scientific article published on 13 February 2016

Outcome and Histopathology of Secondary Penetrating Keratoplasty Graft Failure Managed by Descemet Membrane Endothelial Keratoplasty.

scientific article published on 21 March 2017

Overexpression of EZH2 in conjunctival melanoma offers a new therapeutic target

scientific article published on 23 June 2018

Persistent Retinal Iron in Abusive Head Trauma

scientific article published on 26 October 2016

Phenotypic consequences of a novelSCO2gene mutation

article

Polyriboinosinic polyribocytidylic acid (poly(I:C)) induces stable maturation of functionally active human dendritic cells

scientific article published on 01 July 1999

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

scientific article published on 8 January 2018

Pregnancy induces minor histocompatibility antigen-specific cytotoxic T cells: implications for stem cell transplantation and immunotherapy

scientific article published on 30 October 2003

Prenatal diagnosis of cervical ribs by three-dimensional ultrasound in a foetus with a herniated Dandy-Walker cyst

scientific article published on 18 December 2018

Prevalence and implications of TERT promoter mutation in uveal and conjunctival melanoma and in benign and premalignant conjunctival melanocytic lesions.

scientific article published on 26 August 2014

Prognostic parameters in uveal melanoma and their association with BAP1 expression

scientific article

Prognostic value of TERT promoter mutations in conjunctival melanomas in addition to clinicopathological features

scientific article published on 30 October 2020

Proteomics of human liver membrane transporters: a focus on fetuses and newborn infants

scientific article published in November 2018

Psychiatric phenomena as initial manifestation of encephalitis by anti-NMDAR antibodies

scientific article published on June 2013

RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features

scientific article published on 28 January 2020

Raised Numbers of IgG4-Positive Plasma Cells Are a Common Histopathological Finding in Orbital Xanthogranulomatous Disease

scientific article published on 21 October 2013

Raman spectroscopy for cancer detection and cancer surgery guidance: translation to the clinics

scientific article

Reply

scientific article published on 10 January 2018

Right atrial and ventricular angiosarcoma

scientific article

Risk and relevance of open lung biopsy in pediatric ECMO patients: the Dutch experience

scientific article published on 14 November 2016

Risk factors associated with secondary enucleation after fractionated stereotactic radiotherapy in uveal melanoma

scientific article

SARS-CoV-2 placental infection and inflammation leading to fetal distress and neonatal multi-organ failure in an asymptomatic woman

scientific article

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

scientific article published on 18 October 2017

Severe Acute Respiratory Syndrome Coronavirus 2 Placental Infection and Inflammation Leading to Fetal Distress and Neonatal Multi-Organ Failure in an Asymptomatic Woman

scientific article published on 26 December 2020

Sex Chromosome Analysis of Postmortem Corneal Endothelium After Sex-Mismatch Descemet Membrane Endothelial Keratoplasty

scientific article published on 8 September 2016

Soluble HLA in the Aqueous Humour of Uveal Melanoma Is Associated with Unfavourable Tumour Characteristics

scientific article published on 18 August 2019

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation

scientific article published on 27 August 2020

Spinal Neurenteric Cyst in Association with Klippel-Feil Syndrome: Case Report and Literature Review.

scientific article published on 16 March 2015

Spliceosome Mutations in Uveal Melanoma

scientific article published on 15 December 2020

TERT promoter mutations and BRAF mutations are rare in sporadic, and TERT promoter mutations are absent in NF1-related malignant peripheral nerve sheath tumors

scientific article published on 18 July 2014

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

scientific article published on 14 November 2019

TP53Mutation Analysis of Malignant Peripheral Nerve Sheath Tumors

article

Targeting of the MAPK and AKT pathways in conjunctival melanoma shows potential synergy

scientific article published on 22 July 2016

The Orbit, Including the Lacrimal Gland and Lacrimal Drainage System

The histological absence of IgG4 positive plasma cells in juvenile xanthogranuloma; comments on 'Systemic juvenile xanthogranuloma: a case report and brief review'

scientific article published on 21 September 2018

The influence of indomethacin on the hatching of mouse blastocysts

scientific article published on 01 September 1993

The olfactory nerve: a shortcut for influenza and other viral diseases into the central nervous system

scientific article

The prognostic value of extraocular extension in relation to monosomy 3 and gain of chromosome 8q in uveal melanoma

scientific article published on 4 March 2014

The treatment outcomes in IgG4-related orbital disease: a systematic review of the literature

scientific article published on 07 February 2019

Three Cases of Erdheim-Chester Disease With Intraocular Manifestations: Imaging and Histopathology Findings of a Rare Entity.

scientific article published on 30 January 2017

Thrombopoietin in healthy donors

scientific article published on 01 May 2002

Transient Expression of Lymphatic Markers in Retrobulbar Intraconal Orbital Vasculature During Fetal Development

scientific article published on 01 June 2020

Tumour Angiogenesis in Uveal Melanoma Is Related to Genetic Evolution

scientific article published on 13 July 2019

Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases

scientific article

Water Concentration Analysis by Raman Spectroscopy to Determine the Location of the Tumor Border in Oral Cancer Surgery.

scientific article published on 16 August 2016

β-Amyloid Precursor Protein and Ubiquitin Immunohistochemistry Aid in the Evaluation of Infant Autopsy Eyes With Abusive Head Trauma.

scientific article

List of works by Robert M Verdijk

A Comprehensive Analysis of Ontogeny of Renal Drug Transporters: mRNA Analyses, Quantitative Proteomics, and Localization

A Patient with Autoimmune Pancreatitis Type 1 with Previously Known Lymphadenopathy, Both in the Context of IgG4-related Disease

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Aberrant MicroRNA Expression and Its Implications for Uveal Melanoma Metastasis

Absence of Intraocular Lymphatic Vessels in Uveal Melanomas with Extrascleral Growth

Abstract 4433: Deregulated microRNAs in NF1 derived malignant peripheral nerve sheath tumors (MPNST) and their role in carcinogenesis

Accelerated growth of orbital schwannomas during pregnancy does not correlate with sex hormone- or growth factor receptor status

An inflammatory condition with different faces: immunoglobulin G4-related disease

An update of ocular adnexal lymphomas

Anti-LGI1 encephalitis is strongly associated with HLA-DR7 and HLA-DRB4.

Apparent Lack of BRAF V600E Derived HLA Class I Presented Neoantigens Hampers Neoplastic Cell Targeting by CD8+ T Cells in Langerhans Cell Histiocytosis

Aqueous Humor Biomarkers Identify Three Prognostic Groups in Uveal Melanoma

Atypical Presentation of Iridocorneal Endothelial Syndrome With Band Keratopathy but No Corneal Edema Managed With Descemet Membrane Endothelial Keratoplasty

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Biopsy-proven recurrence of unilateral IgG4-related orbital inflammation after 20 years

Blinded by shiga toxin-producing O104 Escherichia coli and hemolytic uremic syndrome.

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

Case report: a fatal combination of hemophagocytic lymphohistiocytosis with extensive pulmonary microvascular damage in COVID-19 pneumonia

Chemokine Receptor Expression Pattern Correlates to Progression of Conjunctival Melanocytic Lesions

Chemokine receptor CCR7 expression predicts poor outcome in uveal melanoma and relates to liver metastasis whereas expression of CXCR4 is not of clinical relevance.

Clinical evaluation of a dedicated next generation sequencing panel for routine glioma diagnostics

Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma.

Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.

Correlation of Gene Mutation Status with Copy Number Profile in Uveal Melanoma

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

Deregulated microRNAs in neurofibromatosis type 1 derived malignant peripheral nerve sheath tumors

Developmental patterns in human blood-brain barrier and blood-cerebrospinal fluid barrier ABC drug transporter expression

Diagnosing Chronic Lymphocytic Leukemia With Temporal Artery Biopsy

Distinctive cytokines as biomarkers predicting fatal outcome of severe Staphylococcus aureus bacteremia in mice

Elevated Expression of the Cerebrospinal Fluid Disease Markers Chromogranin A and Clusterin in Astrocytes of Multiple Sclerosis White Matter Lesions

Endophthalmitis after strabismus surgery: incidence and outcome in relation to age, operated eye muscle, surgical technique, scleral perforation and immune state

Epibulbar osseous choristoma: a photo essay case report.

Escherichia coli-nitroreductase suicide gene control of human telomerase reverse transcriptase-transduced minor histocompatibility antigen-specific cytotoxic T cells

Evidence for influenza virus CNS invasion along the olfactory route in an immunocompromised infant.

Exclusive TCRVβ chain usage of ex vivo generated minor Histocompatibility antigen HA-1 specific cytotoxic T cells: implications for monitoring of immunotherapy of leukemia by TCRBV spectratyping

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.

Expansion of blood IgG4+ B, TH2, and regulatory T cells in patients with IgG4-related disease

Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors.

Extramedullary Hematopoiesis in Abusive Head Trauma

Fatal Balamuthia mandrillaris Meningoencephalitis in the Netherlands after Travel to The Gambia.

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi

Genetic Background of Iris Melanomas and Iris Melanocytic Tumors of Uncertain Malignant Potential

Genetic evolution of uveal melanoma guides the development of an inflammatory microenvironment

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing

Genome-wide aberrant methylation in primary metastatic UM and their matched metastases

HDAC Inhibition Increases HLA Class I Expression in Uveal Melanoma

High Levels of Neutrophil Extracellular Traps Persist in the Lower Respiratory Tract of Critically Ill Patients With Coronavirus Disease 2019

Higher Percentage of FISH-Determined Monosomy 3 and 8q Amplification in Uveal Melanoma Cells relate to Poor Patient Prognosis

Histopathologic Features of Descemet Membrane Endothelial Keratoplasty Graft Remnants, Folds, and Detachments

Histopathologic, Immunohistochemical, Ultrastructural, and Cytogenetic Analysis of Oncocytic Uveal Melanoma

Histopathologic, immunohistochemical, and cytogenetic analysis of primary clear cell melanoma of the uvea.

Histopathological and Molecular Features of a Conjunctival Caruncular Deep Penetrating Nevus

Histopathology of Failed Descemet Membrane Endothelial Transfer

IgG4-Related Disease of Skull Base: Case Series of 3 Patients with Headache

IgG4-related disease as an emerging cause of scleritis

IgG4-related disease: a systematic review of this unrecognized disease in pediatrics

Ileocolic intussusception as the presenting symptom of primary enteric varicella-zoster virus infection in a 7-month old infant

Infliximab for IgG4-Related Orbital Disease

Intra-ocular diathermy forceps

Intracranial actinomycosis of odontogenic origin masquerading as auto-immune orbital myositis: a fatal case and review of the literature

Ischemia Is Related to Tumour Genetics in Uveal Melanoma

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

Lipomatous Change in Uveal Melanoma: Histopathological, Immunohistochemical and Cytogenetic Analysis

Lymphoproliferative Tumors of the Ocular Adnexa

Malignant pleural mesothelioma with lacrimal gland metastasis

Management of cerebral azole-resistant A. fumigatus infection. A role for intraventricular liposomal-amphotericin B?

Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated WithBAP1Mutations

Metastatic disease in uveal melanoma: importance of a genetic profile?

MicroRNA Profiling in Benign and Malignant Conjunctival Melanocytic Lesions

Miscarriage Associated with Zika Virus Infection

Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients

Multiplex ligation-dependent probe amplification equals fluorescence in-situ hybridization for the identification of patients at risk for metastatic disease in uveal melanoma

Neutrophil extracellular traps persist at high levels in the lower respiratory tract of critically ill COVID-19 patients

No evidence of varicella-zoster virus infection in temporal artery biopsies of anterior ischemic optic neuropathy patients with and without giant cell arteritis

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.