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List of works by Rick van Minkelen

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ⬇️

scientific article published on 13 October 2011

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

article

CEREBRAL PERFUSION AS AN IMAGING BIOMARKER OF PRESYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA: PRELIMINARY RESULTS FROM THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI)

Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.

scientific article published on 03 August 2016

Cognition and gray and white matter characteristics of presymptomatic C9orf72 repeat expansion

scientific article published on 30 August 2017

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

scientific article published on 19 August 2015

Complete FXN deletion in a patient with Friedreich's ataxia

scientific article published on 12 June 2012

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

scientific article published in November 2017

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

article

Deciphering the natural history of SCA7 in children

scientific article published on 17 June 2020

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

scientific article published on 04 February 2020

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

scientific article published on 07 September 2018

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

scientific article published on 9 February 2016

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

scientific article published on 25 March 2019

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

scientific article published on 21 December 2017

Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study

scientific article published on 07 January 2019

Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the risk of venous thrombosis

scientific article published on 05 April 2007

Haplotypes of the interleukin-1 receptor antagonist gene, interleukin-1 receptor antagonist mRNA levels and the risk of myocardial infarction

scientific article published on 09 July 2008

Legius syndrome in fourteen families.

scientific article

Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia.

scientific article

Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

scientific article

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

scientific article published on 22 June 2016

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

PRRT2-related phenotypes in patients with a 16p11.2 deletion

scientific article published on 17 August 2018

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

scientific article published on 06 November 2018

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome ⬇️

scientific article published on 01 October 2012

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

scientific article published on 6 April 2018

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

scientific article published on 4 February 2015

Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.

scientific article published on 29 June 2016

Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study

scientific article published on 11 July 2018

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

scientific article published on May 2016

Review and update of SPRED1 mutations causing Legius syndrome

scientific article published on August 2012

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

scientific article

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation

scientific article

The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis

scientific article

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

scientific article

Three VCP Mutations in Patients with Frontotemporal Dementia

scientific article published on 01 January 2018

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

scientific article published on 22 January 2016

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

scientific article published on 30 July 2020

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