Rick Kamps

Maastricht University — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.6kcitations39works1.42yr avg
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Research Topics

Mitochondrial Function and Pathology(11), Estrogen and related hormone effects(8), Reproductive System and Pregnancy(7), Endometriosis Research and Treatment(6), RNA modifications and cancer(5)

Publications39 total

A bioinformatics pipeline for identifying homoplasmic and heteroplasmic mitochondrial DNA SNVs in single-cell RNA-Seq datasets
Genomics·2025Open Access
Identifying a Novel Causal <i>FAM83H</i> Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing
Molecular Genetics & Genomic Medicine·2025· 1 citedOpen Access
Downregulation of <i>Trpv4</i> and <i>Klf2</i> in brain microvessels is associated with the progression of neurovascular dysfunction and cognitive impairment in a model of heart failure with preserved ejection fraction
2025· 1 citedOpen Access
A Bioinformatics Pipeline for Identifying Homoplasmic and Heteroplasmic Mitochondrial DNA Snvs in Single-Cell Rna-Seq Datasets
SSRN Electronic Journal·2025Open Access
LNC-ing Genetics in Mitochondrial Disease
Non-Coding RNA·2024· 2 citedOpen Access
Impact of benzo[a]pyrene, PCB153 and sex hormones on human ESC-Derived thyroid follicles using single cell transcriptomics
Environment International·2024· 5 citedOpen Access
Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup
Frontiers in Ophthalmology·2024· 1 citedOpen Access
Impact of Endocrine Disrupting Chemicals and Sex Hormones on Human Esc-Derived Thyroid Follicles Using Single Cell Transcriptomics
SSRN Electronic Journal·2023Open Access
Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos
Frontiers in Cell and Developmental Biology·2020· 48 citedOpen Access
The Missing “lnc” between Genetics and Cardiac Disease
Non-Coding RNA·2020· 10 citedOpen Access
Tfam knockdown results in reduction of mtDNA copy number, OXPHOS deficiency and abnormalities in zebrafish embryos
2019· 4 citedOpen Access
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
Frontiers in Genetics·2018· 94 citedOpen Access
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
European Journal of Human Genetics·2018· 30 citedOpen Access
Human embryonic stem cell-derived cardiomyocytes as an in vitro model to study cardiac insulin resistance
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2017· 20 citedOpen Access
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
Frontiers in Molecular Neuroscience·2017· 15 citedOpen Access
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
International Journal of Molecular Sciences·2017· 455 citedOpen Access
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
The Journal of Pediatrics·2017· 11 cited
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
Frontiers in Neurology·2016· 35 citedOpen Access
Replication Errors Made During Oogenesis Lead to Detectable <i>De Novo</i> mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number
Genetics·2016· 14 citedOpen Access
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients
Oncotarget·2015· 8 citedOpen Access
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Frequent Co-authors

Chamindie Punyadeera(12), Patrick G. Groothuis(12), G.A.J. Dunselman(10), Bart de Koning(10), Hubert J.M. Smeets(10), A. de Goeij(9), A. Ederveen(8), Mike Gerards(8), I.F.M. de Coo(8), H. Dassen(7), Fred A. Dijcks(7), Debby M.E.I. Hellebrekers(6), Bert Delvoux(5), Tom E. J. Theunissen(5), Kees Schoonderwoerd(5), Jo Vanoevelen(5), Radek Szklarczyk(5), Patrick Lindsey(5), Suzanne C.E.H. Sallevelt(4), Elvira N. M. Mulder-Den Hartog(4)