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Role of CNTN6 in neurodevelopment and neuropathology.

Journal: Frontiers in neuroscience

Published: October 17, 2025

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

Journal: American journal of medical genetics. Part A

Published: August 18, 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.

Journal: Vavilovskii zhurnal genetiki i selektsii

Published: February 18, 2025

Copy number variations in spontaneous abortions: a meta-analysis.

Journal: Journal of assisted reproduction and genetics

Published: November 06, 2024

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.

Journal: Molecular cytogenetics

Published: September 02, 2024

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

Journal: Genome medicine

Published: May 04, 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.

Journal: Molecular genetics & genomic medicine

Published: April 08, 2024

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Journal: Frontiers in genetics

Published: October 31, 2023

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.

Journal: Nature medicine

Published: May 26, 2023

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Journal: Stem cell research

Published: February 14, 2022

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Journal: Cytogenetic and genome research

Published: November 09, 2021

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.

Journal: Biomedicines

Published: June 04, 2021

Anna A. Kashevarova

Role of CNTN6 in neurodevelopment and neuropathology.

Role of CNTN6 in neurodevelopment and neuropathology.

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

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.

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.

Copy number variations in spontaneous abortions: a meta-analysis.

Copy number variations in spontaneous abortions: a meta-analysis.

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

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.

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.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.