Danijela Krgović - Genetic Mutations

Author Information

Danijela Krgović is a researcher affiliated with the Laboratory of Medical Genetics at the University Medical Centre Maribor, located in Maribor, Slovenia. Her work is primarily focused on the field of genetics, where she has contributed significantly to understanding various genetic disorders and anomalies.

Research Contributions

Danijela Krgović has made substantial contributions to the field of genetics, particularly in the study of copy number variations (CNVs) and their associations with various medical conditions. Her research includes exploring the role of CNVs in conditions such as ADHD, schizophrenia, bipolar disorder, and congenital anomalies. Notably, her work on the genotype-phenotype associations in patients with neurodevelopmental disorders and head and neck cancer highlights the importance of structural genetic variations in disease manifestation. Krgović's research has also delved into specific syndromes, such as Simpson–Golabi–Behmel syndrome and Phelan-McDermid syndrome, further emphasizing her expertise in medical genetics.

Aliases

Danijela Krgović is also known by other names, including D Krgović and Danijela Krgovic. These aliases are used interchangeably in various publications and databases.

Publication and Citation Metrics

Metric	Value
Total Papers Published	15
Total Citation Count	121
H-Index	7

Publications:

Role of Copy Number Variations in ADHD

DOI: 10.5772/intechopen.94383

Year: 2020

CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations

DOI: 10.3389/fpsyt.2020.606372

Year: 2020

De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly

DOI: 10.2478/bjmg-2020-0008

Year: 2020

Identification of genomic copy number variations associated with specific clinical features of head and neck cancer

DOI: 10.1186/s13039-018-0354-8

Year: 2018

Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders

DOI: 10.1038/s41598-018-27824-0

Year: 2018

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

DOI: 10.1002/humu.23610

Year: 2018

Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1

DOI: 10.1177/0300060515595651

Year: 2016

Simpson–Golabi–Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications

DOI: 10.1111/cge.12725

Year: 2016

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

DOI: 10.1186/1471-2350-15-21

Year: 2013

Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.

DOI: 10.1016/j.gene.2013.03.141

Year: 2013

What is Molecular Biology?

Can inherited genetic mutations be treated?

Can Genetic Testing Help?

What Are the Risks Associated with Prenatal Screening and Diagnostic Tests?

How Do We Address Inequality in Access to Genetic Treatments?

How Do Mutations Affect Genome Stability?

What Are the Future Directions in Studying Non-Coding Mutations?

How Does Hydroxyurea Help in Sickle Cell Disease?

Are There Any Treatments Specifically Targeting BRCA1 and BRCA2 Mutations?

What are the Symptoms of Cystic Fibrosis Due to Delta F508 Mutation?

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