Our Publications

Publications involving CAT patients from 2018 can be seen in the following papers:

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders. Valtorta et al, 2026 https://doi.org/10.1186/s13073-026-01667-1

DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies. Kayhan et al, 2026 https://doi.org/10.1093/brain/awag128

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance. Calame et al, 2026 https://doi.org/10.64898/2026.03.27.26345228

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset. Lim et al, 2026 https://doi.org/10.1038/s41531-026-01265-3

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance. Akçimen et al, 2025 https://doi.org/10.1002/mds.30326

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci. Hildonen et al, 2025 https://doi.org/10.1038/s41431-025-01876-z

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Dardas et al, 2025 https://doi.org/10.1016/j.ajhg.2025.03.018

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. Efthymiou et al, 2025 https://doi.org/10.1016/j.ajhg.2025.03.015

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations. Guillouet et al, 2025 https://doi.org/10.1016/j.ajhg.2025.02.016

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits. Rocca et al, 2025 https://doi.org/10.3390/genes16020169

Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy. Gachechiladze et al, 2025 https://doi.org/10.1212/NXG.0000000000200242

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment. Kaiyrzhanov et al, 2024 https://doi.org/10.1093/braincomms/fcae453

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy. Buchert et al, 2025 https://doi.org/10.1016/j.ajhg.2024.12.019

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Clara-Hwang et al, 2024 https://doi.org/10.1212/NXG.0000000000200168

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Kaiyrzhanov et al, 2024 https://doi.org/10.1002/mds.29754

Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS). Kekenadze et al, 2024 https://doi.org/10.12688/f1000research.138436.2

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Scala et al, 2022 https://doi.org/10.1002/humu.24326

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia. Kaiyrzhanov et al, 2024

https://www.nature.com/articles/s41588-024-02016-x

A biobank for Parkinson's disease and atypical parkinsonism in central Asian and Transcaucasian regions.

Central Asian and Transcaucasian Parkinson's Disease Consortium et al, 2024

https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(24)00313-2/fulltext

Validation of the Kazakh Version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale

Abdraimova et al, 2023

https://www.sciencedirect.com/science/article/pii/S259011252400001X

Parkinson's Disease in Kazakhstan: Clinico-Demographic Description of a Large Cohort. Kaiyrzhanov et al, 2023

https://pubmed.ncbi.nlm.nih.gov/32144996/

GM1-Gangliosidosis Type III Associated Parkinsonism. Kaiyrzhanov et al, 2023

https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mdc3.13289

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Kaiyrzhanov et al, 2023

https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awad380/7407365

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Engel et al, 2023

https://pubmed.ncbi.nlm.nih.gov/37344571/

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Saida et al, 2023

https://pubmed.ncbi.nlm.nih.gov/36318270/

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Kaiyrzhanov et al, 2023

https://pubmed.ncbi.nlm.nih.gov/36055214/

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Dana Marafi et al, 2022

https://pubmed.ncbi.nlm.nih.gov/34605855/

https://pubmed.ncbi.nlm.nih.gov/34989426/

Phenotypic continuum of NFU1-related disorders. Kaiyrzhanov et al, 2022

https://pubmed.ncbi.nlm.nih.gov/36256512/

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Christensen et al, 2022

https://pubmed.ncbi.nlm.nih.gov/35616059/

Biallelic loss of EMC10 leads to mild to severe intellectual disability. Kaiyrzhanov et al, 2022

https://pubmed.ncbi.nlm.nih.gov/35684946/

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range. Salayev et al, 2022

https://pubmed.ncbi.nlm.nih.gov/36122674/

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Poole et al, 2021

https://onlinelibrary.wiley.com/doi/full/10.1002/ana.26063

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Elodie M Richard et al, 2021

https://pubmed.ncbi.nlm.nih.gov/34626583/

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Tremblay-Laganiere et al, 2021

https://pubmed.ncbi.nlm.nih.gov/33156547/

A glimpse of the genetics of young-onset Parkinson's disease in Central Asia. Kaiyrzhanov et al, 2021

https://pubmed.ncbi.nlm.nih.gov/33818904/

LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan. Kaiyrzhanov et al, 2020

https://pubmed.ncbi.nlm.nih.gov/32148752/

Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care. Kaiyrzhanov et al, 2019

https://pubmed.ncbi.nlm.nih.gov/31485304/