About D. (Dmitrijs) Rots, MD, PhD
Introduction
Translational Epigenetics
My PhD project at Radboudumc (Nijmegen, the Netherlands) focused on “Clinical Epigenetics of Mendelian Neurodevelopmental Disorders.” During this time, I had the opportunity to train also in the laboratories of Prof. R. Weksberg and Prof. S. Banka, where I focused on various aspects of epigenetics in rare disorders.
After completing my PhD, I joined Erasmus MC as a postdoctoral researcher. My current work focuses on harnessing DNA methylation and other epigenetic information to study the biology and mechanisms of rare disorders, and to translate these finding into clinics to improve their diagnostics and identify prognostic and clinical variability biomarkers. For example, this research has led to the development of a novel approach to DNA methylation–based classifier training, culminating in the creation of a user-friendly, publicly available tool called “MethaDory.”
Innovation in genomic medicine for Rare Disorders
I am involved in testing, development, application and clinical translation of novel (epi)genetic techiques, methods and tools aimed at improving patient care and diagnostics at the Translational and functional genomics group. For example, our team successfully implemented ultrarapid long-read genome sequencing for critically ill patients as a routine diagnostic service in our centre. My expertiese in epigenetics has enabled also the integration of DNA methylation analysis alongside the DNA variant detection in the long-read sequencing test.
My PhD project at Radboudumc (Nijmegen, the Netherlands) focused on “Clinical Epigenetics of Mendelian Neurodevelopmental Disorders.” During this time, I had the opportunity to train also in the laboratories of Prof. R. Weksberg and Prof. S. Banka, where I focused on various aspects of epigenetics in rare disorders.
After completing my PhD, I joined Erasmus MC as a postdoctoral researcher. My current work focuses on harnessing DNA methylation and other epigenetic information to study the biology and mechanisms of rare disorders, and to translate these finding into clinics to improve their diagnostics and identify prognostic and clinical variability biomarkers. For example, this research has led to the development of a novel approach to DNA methylation–based classifier training, culminating in the creation of a user-friendly, publicly available tool called “MethaDory.”
Innovation in genomic medicine for Rare Disorders
I am involved in testing, development, application and clinical translation of novel (epi)genetic techiques, methods and tools aimed at improving patient care and diagnostics at the Translational and functional genomics group. For example, our team successfully implemented ultrarapid long-read genome sequencing for critically ill patients as a routine diagnostic service in our centre. My expertiese in epigenetics has enabled also the integration of DNA methylation analysis alongside the DNA variant detection in the long-read sequencing test.
Education and career
MD - Riga Stradiņš University, Riga, Latvia
PhD - Radboudumc, Nijmegen, Netherlands
Thesis: “Clinical epigenetics of Mendelian neurodevelopmental disorders”
Postdoctoral Researcher - Erasmus MC, Rotterdam, Netherlands
European Clinical Laboratory Geneticist - Latvian Human Genetics Society and European Board of Medical Genetics
Laboratory specialist Clinical Genetics, Erasmus MC Rotterdam
Publications
1. Authors: F. Ferraro, … , D.Rots
Title:“Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory”.
Published: medRxiv 2025; doi: https://doi.org/10.1101/2025.03.28.25324859
2. Authors: Rozevska M*, Daila Neiburga-Vigante K*, … , Rots D** , Kurjane N**.
Title:”Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.”
Published: Front Immunol. 2025 Mar 28;16:1510365. doi: 10.3389/fimmu.2025.1510365.
3. Authors: Rots D*, Choufani S*, Faundes V*, Dingemans AJM, …, Kleefstra T**, Weksberg R**, Banka S**.
Title: “Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes”.
Published: Am J Hum Genet, 2024. doi: 10.1016/j.ajhg.2024.06.009.
4. Authors: Rots D*, Bouman A*, Yamada A*, Levy M, Dingemans AJM, …, Shinkai Y**, Kleefstra T**.
Title: “Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.”
Published: Am J Hum Genet, 2024. doi: 10.1016/j.ajhg.2024.06.008.
5. Authors: Rots D*, Rooney K*, …, Sadikovic B**, Kleefstra T**.
Title: “Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile”.
Published: Clin Genet, 2024. doi: 10.1111/cge.14498.
6. Authors: Rozevska M, Kanepa A, …, Farkas H**, Rots D**, Kurjane N**.
Title: “Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients”.
Published: Allergy Asthma Clin Immunol, 2024. doi: 10.1186/s13223-024-00889-5.
7. Authors: Rots D*, Jakub TE*, … Kramer J**, Kleefstra T**.
Title:” The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.”
Published: Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008.
8. Authors: Rudaka I, Vilne B, Isakova J, Kalejs O, Gailite L**, Rots D**.
Title: “Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors”.
Published: J Cardiovasc Dev Dis, 2023. doi: 10.3390/jcdd10030104.
9. Authors: Nartisa I*, Kirsteina R*, …, Rots D**, Taurina G**, Kurjane N**.
Title: “Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population”.
Published: Pediatr Allergy Immunol, 2023. doi: 10.1111/pai.13937.
10. Authors: Setlere S, Jurcenko M, Gailite L, Rots D**, Kenina V**.
Title: “Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview”.
Published: Neurol Genet 2022. doi: 10.1212/NXG.0000000000200019.
11. Authors: Snijders Blok L*, Verseput J*, Rots D, …, Fisher SE, Brunner HG, Kleefstra T.
Title: “A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder”.
Published: HGG Adv, 2022. doi: 10.1016/j.xhgg.2022.100157.
12. Authors: Rots D*, Chater-Diehl E*, Dingemans AJM, … , Kleefstra T, Koolen DA**, Weksberg R**.
Title: “Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature”.
Published: Am J Hum Genet, 2021. doi:10.1016/j.ajhg.2021.04.008.
Full list available: https://pubmed.ncbi.nlm.nih.gov/?term=Rots%20D&sort=pubdate
Title:“Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory”.
Published: medRxiv 2025; doi: https://doi.org/10.1101/2025.03.28.25324859
2. Authors: Rozevska M*, Daila Neiburga-Vigante K*, … , Rots D** , Kurjane N**.
Title:”Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.”
Published: Front Immunol. 2025 Mar 28;16:1510365. doi: 10.3389/fimmu.2025.1510365.
3. Authors: Rots D*, Choufani S*, Faundes V*, Dingemans AJM, …, Kleefstra T**, Weksberg R**, Banka S**.
Title: “Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes”.
Published: Am J Hum Genet, 2024. doi: 10.1016/j.ajhg.2024.06.009.
4. Authors: Rots D*, Bouman A*, Yamada A*, Levy M, Dingemans AJM, …, Shinkai Y**, Kleefstra T**.
Title: “Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.”
Published: Am J Hum Genet, 2024. doi: 10.1016/j.ajhg.2024.06.008.
5. Authors: Rots D*, Rooney K*, …, Sadikovic B**, Kleefstra T**.
Title: “Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile”.
Published: Clin Genet, 2024. doi: 10.1111/cge.14498.
6. Authors: Rozevska M, Kanepa A, …, Farkas H**, Rots D**, Kurjane N**.
Title: “Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients”.
Published: Allergy Asthma Clin Immunol, 2024. doi: 10.1186/s13223-024-00889-5.
7. Authors: Rots D*, Jakub TE*, … Kramer J**, Kleefstra T**.
Title:” The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.”
Published: Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008.
8. Authors: Rudaka I, Vilne B, Isakova J, Kalejs O, Gailite L**, Rots D**.
Title: “Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors”.
Published: J Cardiovasc Dev Dis, 2023. doi: 10.3390/jcdd10030104.
9. Authors: Nartisa I*, Kirsteina R*, …, Rots D**, Taurina G**, Kurjane N**.
Title: “Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population”.
Published: Pediatr Allergy Immunol, 2023. doi: 10.1111/pai.13937.
10. Authors: Setlere S, Jurcenko M, Gailite L, Rots D**, Kenina V**.
Title: “Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview”.
Published: Neurol Genet 2022. doi: 10.1212/NXG.0000000000200019.
11. Authors: Snijders Blok L*, Verseput J*, Rots D, …, Fisher SE, Brunner HG, Kleefstra T.
Title: “A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder”.
Published: HGG Adv, 2022. doi: 10.1016/j.xhgg.2022.100157.
12. Authors: Rots D*, Chater-Diehl E*, Dingemans AJM, … , Kleefstra T, Koolen DA**, Weksberg R**.
Title: “Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature”.
Published: Am J Hum Genet, 2021. doi:10.1016/j.ajhg.2021.04.008.
Full list available: https://pubmed.ncbi.nlm.nih.gov/?term=Rots%20D&sort=pubdate
Other positions
Clinical laboratory geneticist - Children’s Clinical University Hospital, Riga, Latvia
Scholarships, grants, and awards
European Joint Programme on Rare Diseases (EJP-RD) Mobility fellowship (2021) for research visit to the group of prof. S.Banka (Manchester University NHS Foundation Trust, Manchester, UK)
“Role of Epivariants in Neurodevelopmental disorders”
KNAW Ter Meulen Grant (2022) for research visit to the group of prof.R.Weksberg at SickKids, Toronto, Canada
“Role of the COMPASS complex defects in neurodevelopmental disorders”
“Role of Epivariants in Neurodevelopmental disorders”
KNAW Ter Meulen Grant (2022) for research visit to the group of prof.R.Weksberg at SickKids, Toronto, Canada
“Role of the COMPASS complex defects in neurodevelopmental disorders”
