zivile maldziene - Genetic Mutations

Author Information

Živilė Maldžienė is affiliated with the Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, located at Santariškių st. 2, 08661, Vilnius, LT, Lithuania. Her research primarily focuses on genetic causes of congenital neurodevelopmental disorders, with a particular interest in various syndromes associated with chromosomal abnormalities.

Research Contributions

Živilė Maldžienė has made significant contributions to the field of genetics, particularly in understanding genetic causes of congenital neurodevelopmental disorders. Her work includes case reports and studies on various syndromes such as Christianson Syndrome, Feingold Syndrome 2, Greig cephalopolysyndactyly syndrome, and CHARGE syndrome. She has utilized genome-wide molecular technologies to identify genetic causes and has reported novel genetic variants and microdeletions associated with these conditions. Her research has been published in various reputable journals, contributing valuable insights to the field of human and medical genetics.

Aliases

There are no aliases provided for Živilė Maldžienė.

Publication and Citation Metrics

Metric	Value
Citation Count	25
H-index	3
Paper Count	12

Publications:

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report

DOI: 10.3390/medicina58030351

Year: 2022

A de novo 13q31.3 microduplication encompassing the miR-17∼92 cluster results in features mirroring those associated with Feingold syndrome 2.

DOI: 10.1016/j.gene.2020.144816

Year: 2020

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

DOI: 10.1186/s12920-020-0711-4

Year: 2020

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

DOI: 10.1002/mgg3.878

Year: 2019

16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay.

DOI: 10.1097/MCD.0000000000000285

Year: 2019

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

DOI: 10.1186/s12881-019-0859-y

Year: 2019

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion

DOI: 10.1080/13816810.2016.1227452

Year: 2017

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay

DOI: 10.1159/000456695

Year: 2017

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

DOI: 10.6001/actamedica.v23i2.3324

Year: 2016

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What Types of Genetic Mutations Can Be Treated?

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What is the Future of Genetic Mutation Diagnostics?

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