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Ralitsa V. Yordanova

Observed names: R. Yordanova, Ralitsa Iordanova, Ralitsa Yordanova, Ralitza Yordanova, Yordanova, Ralitsa, Yordanova, Ralitza
ORCID: 0000-0003-3935-5397
Observed ORCID: 0000-0003-3935-5397
OpenAlex ID: A5017720238
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature
2018 · I. Ivanov, D. Atkinson, et al. · European Journal of Paediatric Neurology · 31
Epilepsy in Children with Autistic Spectrum Disorder
2019 · Iliyana Pacheva, Ivan Ivanov, et al. · Children · 29
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Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children
2014 · Ivan S. Ivanov, Dimitar N. Azmanov, et al. · Molecular Genetics and Metabolism · 26
Cellular Bioenergetic and Metabolic Changes in Patients with Autism Spectrum Disorder
2021 · Maria Gevezova, Danail Minchev, et al. · Current Topics in Medicinal Chemistry · 19
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
2024 · Remzi Karayol, Maria Carla Borroto, et al. · The American Journal of Human Genetics · 17
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Association of NGF and Mitochondrial Respiration with Autism Spectrum Disorder
2022 · Maria Gevezova, Danail Minchev, et al. · International Journal of Molecular Sciences · 16
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Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience
2022 · Ivan Ivanov, Iliyana Pacheva, et al. · CNS & Neurological Disorders - Drug Targets · 11
Acute flaccid myelitis in Europe between 2016 and 2023: indicating the need for better registration
2025 · Jelte Helfferich, Cristina Calvo, et al. · Eurosurveillance · 5
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The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria
2021 · Ivan Ivanov, Iliyana Pacheva, et al. · Diagnostics · 4
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First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene
2019 · Iliyana Pacheva, Tihomir Todorov, et al. · American Journal of Medical Genetics Part A · 4
Developmental performance of 5‐year‐old Bulgarian children—An example of translational neuroscience in practice
2018 · Ralitsa Yordanova, Ivan Ivanov · Journal of Evaluation in Clinical Practice · 2
Clinical heterogeneity and diagnostic challenges in CASK-related neurodevelopmental disorders: a longitudinal observational study
2026 · Iliyana Hristova Pacheva, Elena Timova, et al. · Frontiers in Psychiatry
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Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report
2026 · Katerina Gaberova, Iliyana Hristova Pacheva, et al. · Frontiers in Psychiatry
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Clinical Heterogeneity and Diagnostic Challenges in CASK-Related Neurodevelopmental Disorders: A Longitudinal Observational Study
2026 · Todorova, Albena, Ivanova, Nevyana, et al. · Bulgarian Portal for Open Science
Cases of acute hemiparesis in childhood
2023 · Margarita Panova, Iliyana Pacheva, et al. · Folia Medica
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Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1
2017 · I. Ivanov, A. Jordanova, et al. · European Journal of Paediatric Neurology
Neurodevelopmental profile at 5 years of a boy with Dravet syndrome– like phenotype: Does SCN1A gene have something in common?
2016 · Ralitsa Yordanova, Иван Иванов, et al.
Founder p.Arg 446*mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children
2014 · Ivan S. Ivanov, Dimitar N. Azmanov, et al. · Newcastle University ePrints (Newcastle Univesity)
Works count: 19
Citation count: 164
H-index: 7
I10-index: 7
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