Publications by authors named "Dmitrijs Rots"

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Novel Gene Variant and the Spectrum of Variants in Patients With Charcot-Marie-Tooth Disease.
Dace Pretkalnina, Marija Jurcenko, Marija Rozevska, Linda Gailite, Gundega Kauke, Dmitrijs Rots

Neurol Genet· December 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka

Am J Hum Genet· November 2025

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Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.
Daphne J Smits, Christophe Debuy, Alice S Brooks, Rachel Schot, Federico Ferraro, Dmitrijs Rots

Eur J Hum Genet· October 2025

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Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.
Daphne J Smits, Federico Ferraro, Mark Drost, Herma C van der Linde, Bianca M de Graaf, Dmitrijs Rots

Eur J Hum Genet· October 2025

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Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.
Federico Ferraro, Nikolas Kühn, Dmitrijs Rots, Herma C van der Linde, Banin Mohseni

HGG Adv· September 2025

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DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
Milou G P Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W Ockeloen, Caroline Boelen

Eur J Hum Genet· August 2025

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Metabolomics insights into Charcot-Marie-Tooth disease: toward biomarker discovery.
Signe Setlere, Theresa Schiemer, Annija Vaska, Linda Gailite, Dmitrijs Rots

Front Neurol· May 2025

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Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Marija Rozevska, Katrina Daila Neiburga-Vigante, Inga Nartisa, Zane Lucane, Lota Ozola, Dmitrijs Rots

Front Immunol· April 2025

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Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot-Marie Tooth patients.
Dace Pretkalnina, Elizabete Kenina, Linda Gailite, Dmitrijs Rots, Kaj Blennow

Front Neurol· January 2025

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Unravelling the genetic landscape of cervical insufficiency: Insights into connective tissue dysfunction and hormonal pathways.
Ludmila Voložonoka, Līvija Bārdiņa, Anna Kornete, Zita Krūmiņa, Dmitrijs Rots

PLoS One· September 2024

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans

Am J Hum Genet· August 2024

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss

Am J Hum Genet· August 2024

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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey

Clin Genet· June 2024

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Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Lottie D Morison, Milou G P Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling

J Med Genet· May 2024

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Exploring disease-specific metabolite signatures in hereditary angioedema patients.
Adine Kanepa, Jingzhi Fan, Dmitrijs Rots, Annija Vaska, Laura Ansone

Front Immunol· May 2024

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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans

Eur J Hum Genet· March 2024

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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans

Eur J Hum Genet· March 2024

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Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients.
Marija Rozevska, Adine Kanepa, Signe Purina, Linda Gailite, Inga Nartisa, Dmitrijs Rots

Allergy Asthma Clin Immunol· March 2024

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Dmitrijs Rots

Genet Med· November 2023

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Plasma neurofilament light chain level is not a biomarker of Charcot-Marie-Tooth disease progression: Results of 3-year follow-up study.
Signe Setlere, Arta Grosmane, Natalja Kurjane, Linda Gailite, Dmitrijs Rots

Eur J Neurol· August 2023

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka

Am J Hum Genet· June 2023

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Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene.
Marija Roddate, Gita Tauriņa, Vladimirs Krutovs, Dmitrijs Rots, Viktorija Kēniņa

Am J Case Rep· May 2023

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National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.
Adine Kanepa, Inga Nartisa, Dmitrijs Rots, Linda Gailite, Henriette Farkas

Allergy Asthma Clin Immunol· April 2023

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Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Inga Nartisa, Rasa Kirsteina, Katrina Daila Neiburga, Sanita Zigure, Lota Ozola, Dmitrijs Rots

Pediatr Allergy Immunol· April 2023

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Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors.
Irina Rudaka, Baiba Vilne, Jekaterina Isakova, Oskars Kalejs, Linda Gailite, Dmitrijs Rots

J Cardiovasc Dev Dis· February 2023

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