Dmitrijs Rots

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 57 publications

Detection of miRNA in chronic spontaneous urticaria patients - pilot study.

Detection of miRNA in chronic spontaneous urticaria patients - pilot study.

Journal: Frontiers in immunology
Published: April 26, 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine
Published: April 25, 2026

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.

Journal: Frontiers in genetics
Published: March 06, 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics
Published: February 06, 2026

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Journal: American journal of human genetics
Published: December 11, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics
Published: October 19, 2025

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Journal: Nature communications
Published: September 23, 2025

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 17, 2025

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.

Journal: HGG advances
Published: May 23, 2025

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG
Published: March 24, 2025

A Novel PCK1 Gene Variant Associated With Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Two Siblings With Different Clinical Presentations.

A Novel PCK1 Gene Variant Associated With Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Two Siblings With Different Clinical Presentations.

Journal: JIMD reports
Published: February 27, 2025

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2025
Showing 1-12 of 57

Last Updated: 09/26/2026