Kai Muru - Publications

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts.

Journal: Frontiers in neurology

Published: August 12, 2025

The prevalence of congenital anomalies: nationwide study in 2020 in Estonia.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: September 24, 2023

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2023

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Journal: American journal of human genetics

Published: June 30, 2023

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.

Journal: Epigenomics

Published: May 30, 2023

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2023

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Journal: Molecular genetics & genomic medicine

Published: August 02, 2022

The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.

Journal: JIMD reports

Published: June 29, 2022

Natural history of KBG syndrome in a large European cohort.

Journal: Human molecular genetics

Published: June 01, 2022

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Journal: Frontiers in genetics

Published: October 17, 2021

A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.

Journal: Molecular genetics & genomic medicine

Published: December 29, 2020