Laura Kasak - Genetic Mutations

Author Information

Laura Kasak is currently affiliated with the Human Genetics Research Group at the Institute of Biomedicine and Translational Medicine, University of Tartu, Estonia. Her research focuses on various aspects of genetics, including reproductive health, genetic variants affecting the placental transcriptome, and the genetics of male infertility.

Research Contributions

Laura Kasak has contributed significantly to the field of genetics with a primary focus on reproductive health and genetic disorders. Her notable works include studies on genetic variants shaping the placental transcriptome and their implications on gestational and postnatal health, the identification of variants in the GCNA gene linked to primary spermatogenic failure in men, and the investigation of monogenic causes of non-obstructive azoospermia. Additionally, Laura has explored the genetic aspects of recurrent pregnancy loss and conditions such as Long-QT Syndrome.

Aliases

Laura Kasak is also known by the following aliases: L E Kasak, L Kasak, and Laura Kasak.

Publication and Citation Metrics

Metric	Value
Total Citation Count	531
H-index	10
Total Paper Count	27

Publications:

Corrigendum to "Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health" [Placenta 116 (2021) 2-11].

DOI: 10.1016/j.placenta.2022.04.002

Year: 2022

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.

DOI: 10.1007/s00439-021-02287-y

Year: 2021

Translational aspects of novel findings in genetics of male infertility-status quo 2021.

DOI: 10.1093/bmb/ldab025

Year: 2021

Recurrent Pregnancy Loss and Concealed Long‐QT Syndrome

DOI: 10.1161/JAHA.121.021236

Year: 2021

Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health.

DOI: 10.1016/j.placenta.2021.02.009

Year: 2021

Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.

DOI: 10.1161/JAHA.121.021236

Year: 2021

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

DOI: 10.1007/s00439-020-02112-y

Year: 2020

NR5A1 c.991‐1G > C splice‐site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance

DOI: 10.1111/cen.14381

Year: 2020

Genetics and Genomics of Recurrent Pregnancy Loss

DOI: 10.1016/B978-0-12-813570-9.00021-8

Year: 2019

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

DOI: 10.1002/humu.23874

Year: 2019

Are there preventive measures for PAH exposure?

How Do Synonymous Mutations Occur?

What Are the Treatment Options for Sickle Cell Disease?

What is Hemophilia?

Are There Any Research Advances for Delta F508 Mutation?

What Types of Genetic Mutations Can Benzene Cause?

How is HbS Diagnosed?

What is Genomics?

What is the Evolutionary Significance of Gene Amplification?

Can Immunotherapy Cause Genetic Mutations?

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