АК
А. А. Кашеварова

Well Cited

123
Works
548
Citations
11
H-Index
Search Authors
Author Statistics
External Links
OpenAlex Profile ORCID Profile

А. А. Кашеварова

Also known as: A A Kashevarova, A Kashevarova, A. A Kashevarova, A. A. Kashevarova, A. Kashevarova

123

Total Works

548

Citations

11

H-Index

16

i10-Index

Citation & Works Trend by Year
19 years active
Top Research Topics
Genomic variations and chromosomal abnormalities (88) Prenatal Screening and Diagnostics (38) Genomics and Rare Diseases (37) Genetics and Neurodevelopmental Disorders (36) Epigenetics and DNA Methylation (21)
Recent Publications
15 shown
Year Publication Title Citations Action
2026 Role of CNTN6 in neurodevelopment and neuropathology Frontiers in Neuroscience 1
2026 Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities ( IDDSSBA ) and Corpus Callosum Dysgenesis American Journal of Medical Genetics Part A 0
2025 A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development Vavilov Journal of Genetics and Breeding 0
2025 Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants Genome Medicine 4
2025 Copy number variations in spontaneous abortions: a meta-analysis Journal of Assisted Reproduction and Genetics 5
2025 Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders Molecular Cytogenetics 4
2024 Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications Molecular Genetics & Genomic Medicine 2
2024 CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis Генетика 0
2024 Design of iPSC-based cell model to study the functions of the UBE2A gene Genes and Cells 3
2024 CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis Russian Journal of Genetics 3
2024 Молекулярно-цитогенетическая диагностика парацентрической инверсии 8p23.1 в кариотипе матери пациента с invdupdel(8p) на кольцевой хромосоме 8 Nauchno-prakticheskii zhurnal «Medicinskaia genetika» 0
2024 A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication Frontiers in Genetics 1
2024 A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing bioRxiv (Cold Spring Harbor Laboratory) 0
2024 Ring Chromosome 8 Springer eBooks 0
2023 Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24 Russian Journal of Developmental Biology 1

Data source: OpenAlex API