Publications by authors named "Slavena Atemin"

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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Slavena Atemin

Brain· June 2025

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Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Lyudmila Belenska-Todorova, Milen Zamfirov, Tihomir Todorov, Slavena Atemin, Mila Sleptsova

Cells· June 2025

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Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Slavena Atemin

medRxiv· April 2025

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A Cautionary Tale of Hypertrophic Cardiomyopathy-From "Benign" Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of Literature.
Dolina Gencheva, Petya Angelova, Kameliya Genova, Slavena Atemin, Mila Sleptsova

Int J Mol Sci· August 2024

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Slavena Atemin

Am J Hum Genet· July 2024

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Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Petya Angelova, Vasil Velchev, Nikolay Stoyanov, Slavena Atemin, Tihomir Todorov

Am J Med Genet A· July 2023

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Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.
Slavena Atemin, Tihomir Todorov, Ivan Tourtourikov, Mariya B Ivanova, Teodora Chamova

J Genet· February 2023

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Novel variant c.92T > G (p.Val31Gly) in the gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree.
Teodor Angelov, Teodora Chamova, Slavena Atemin, Tihomir Todorov, Slavko Ormandzhiev

Front Neurol· February 2023

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MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.
Slavena Atemin, Tihomir Todorov, Ales Maver, Teodora Chamova, Bilyana Georgieva

Neuromuscul Disord· July 2021

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