Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, +84

The American Journal of Human Genetics

Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease

Elīna Millere, Dmitrijs Rots, Joel Simrén, +9

European Journal of Neurology

Systemic DiseasesNeurological DisorderPotential BiomarkerClinical NeurologyPathology +21

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, +56

Genetics in Medicine

Genetic landscape of preterm birth due to cervical insufficiency: Comprehensive gene analysis and patient next-generation sequencing data interpretation

Ludmila Voložonoka, Dmitrijs Rots, Inga Kempa, +4

PLoS ONE

FertilityCervical InsufficiencyGeneticsReproductive HealthGenetic Epidemiology +21

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

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, +114

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyMolecular NeuroscienceGenetic DisorderNeuroscience +8

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, +47

Genetics in Medicine

DeNovoCNN: a deep learning approach to <i>de novo</i> variant calling in next generation sequencing data

Gelana Khazeeva, Karolis Šablauskas, Bart van der Sanden, +8

Nucleic Acids Research

Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population

Madara Kreile, Dmitrijs Rots, Zane Dobele, +2

Archives of Medical Science

Lack of Association between Polymorphisms in Genes MTHFR and MDR1 with Risk of Childhood Acute Lymphoblastic Leukemia

Madara Kreile, Dmitrijs Rots, Elizabete Cebura, +3

Asian Pacific Journal of Cancer Prevention

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Dmitrijs Rots, Sanaa Choufani, Víctor Faúndes, +101

The American Journal of Human Genetics