Aslıhan Tolun - Genetic Mutations

Author Information

Aslıhan Tolun is a researcher affiliated with the Department of Molecular Biology and Genetics at Boğaziçi University in Istanbul, Turkey. Her work primarily focuses on the genetic underpinnings of various developmental disorders and conditions, making significant contributions to the field of genetics.

Research Contributions

Aslıhan Tolun has made substantial contributions to the understanding of genetic mutations and their role in developmental and neurodevelopmental disorders. Her research includes identifying specific genetic variants that cause conditions such as microcephaly, intellectual disability, Robinow syndrome, and neurodevelopmental defects. Notable publications include studies on mutations in ASPM, ROR2, CRADD, USP44, and other genes that have expanded the understanding of these complex conditions. Her work often involves detailed genetic analysis and characterization of novel mutations, providing insights that are crucial for diagnosis and potential therapeutic strategies.

Aliases

Aslıhan Tolun is also known by various aliases including Aslihan Tolun, Asli Tolun, A. A. Tolun, and A Tolun.

Publication and Citation Metrics

Metric	Value
Citation Count	3614
H-Index	30
Paper Count	102

Publications:

A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.

DOI: 10.1089/gtmb.2021.0231

Year: 2022

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods

DOI: 10.1002/ajmg.a.62514

Year: 2021

CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.

DOI: 10.1016/j.ejmg.2021.104181

Year: 2021

Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis

DOI: 10.15252/embj.2020105531

Year: 2021

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1

DOI: 10.1002/ajmg.a.62163

Year: 2021

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

DOI: 10.1038/s10038-020-0817-8

Year: 2020

Novel EDAR mutation in tooth agenesis and variable associated features.

DOI: 10.1016/j.ejmg.2020.103926

Year: 2020

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

DOI: 10.1038/s10038-020-0812-0

Year: 2020

A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

DOI: 10.4274/tjh.galenos.2018.2018.0325

Year: 2019

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems

DOI: 10.1111/cge.13612

Year: 2019

What Are Developmental Disorders?

How is Sickle Cell Trait Diagnosed?

What Is the Role of Mutations in Evolution?

What Types of Cancers Are Linked to Asbestos Exposure?

Can Genetic Mutations be Treated or Cured?

How do PAHs cause genetic mutations?

What Are Some Diseases Caused by Nucleotide Mutations?

What is Precision Medicine?

How Do Genetic Mutations Contribute to Heart Disease?

Can Insertion Mutations Be Repaired?

Partnered Content Networks

Relevant Topics