bashayer r al mubarak - Genetic Mutations

Author Information

Bashayer R. Al-Mubarak is affiliated with the Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Her research primarily focuses on genetic studies related to neurodevelopmental and neurodegenerative disorders.

Research Contributions

Dr. Bashayer R. Al-Mubarak has made significant contributions to the field of genetics, particularly in understanding the genetic basis of neurological disorders such as Parkinson's disease, ADHD, and autism spectrum disorder. Her work includes studies on whole exome sequencing, the genetic underpinnings of synaptic plasticity, and the role of oxidative stress in neural cells. Notably, her research has provided insights into the polygenic transmission of ADHD, the involvement of calcium channels in synaptic plasticity, and the genetic heterogeneity of Parkinsonism in Saudi families.

Aliases

Bashayer R. Al-Mubarak is also known as Bashayer Al-mubarak and Bashayer R Al-mubarak.

Publication and Citation Metrics

Metric	Value
Number of Papers	24
Total Citations	815
H-index	13

Publications:

Non-canonical Keap1-independent activation of Nrf2 in astrocytes by mild oxidative stress

DOI: 10.1016/j.redox.2021.102158

Year: 2021

Targeted de-repression of neuronal Nrf2 inhibits α-synuclein accumulation

DOI: 10.1038/s41419-021-03507-z

Year: 2021

Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission

DOI: 10.1038/s41431-020-0619-7

Year: 2020

Estimating transfection efficiency in differentiated and undifferentiated neural cells

DOI: 10.1186/s13104-019-4249-5

Year: 2019

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease

DOI: 10.1038/s41598-019-40102-x

Year: 2019

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

DOI: 10.3390/genes9050267

Year: 2018

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

DOI: 10.1038/s41598-017-06033-1

Year: 2017

Homeostatic Presynaptic Plasticity Is Specifically Regulated by P/Q-type Ca2+ Channels at Mammalian Hippocampal Synapses

DOI: 10.1016/j.celrep.2017.09.061

Year: 2017

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

DOI: 10.1186/s13104-016-2102-7

Year: 2016

Parkinson’s Disease in Saudi Patients: A Genetic Study

DOI: 10.1371/journal.pone.0135950

Year: 2015

What are Genetic Mutations?

How is Cystic Fibrosis Inherited?

What is Base Editing?

What Are the Treatment Options for Hemophilia?

How do Chemical Mutagens Cause Induced Mutations?

What Is the Future of PARP Inhibitors?

How Does Gene Therapy Work?

How Do Mutations Cause Diseases?

What is the Evolutionary Perspective?

What is the CFTR Gene?

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