Ariana Kariminejad - Genetic Mutations

Author Information

Ariana Kariminejad is a prominent geneticist affiliated with the Kariminejad-Najmabadi Pathology and Genetics Center in Tehran, Iran. Her research primarily focuses on the genetic underpinnings of various hereditary conditions, with a particular interest in neurodegenerative diseases, congenital anomalies, and genetic mutations contributing to different syndromes. Through her work, she aims to uncover the molecular mechanisms of these conditions, contributing to advancements in genetic diagnostics and therapeutics.

Research Contributions

Ariana Kariminejad has made significant contributions to the field of genetics, with research spanning several key areas. Her studies have explored pathogenic variants and their roles in conditions such as central conducting lymphatic anomaly and hereditary spastic paraplegia. She has also investigated the molecular basis of rare genetic disorders, including Kindler epidermolysis bullosa and NGLY1 deficiency. Her work often involves the use of advanced genetic techniques like whole exome sequencing and copy number variation analysis to identify novel genetic pathways and mutations responsible for various hereditary conditions.

Aliases

Ariana Kariminejad is known by several aliases in the academic community, including A Kariminejad and A. Kariminejad. These variations of her name are used across different publications and platforms.

Publication and Citation Metrics

Metric	Value
Total Citation Count	6413
h-index	29
Total Paper Count	165

Publications:

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

DOI: 10.1126/scitranslmed.abm4869

Year: 2022

Anticipation can be more common in hereditary spastic paraplegia with SPAST mutations than it appears.

DOI: 10.1017/cjn.2021.188

Year: 2021

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

DOI: 10.1016/j.matbio.2021.05.002

Year: 2021

NGLY1 deficiency: Novel variants and literature review.

DOI: 10.1016/j.ejmg.2021.104146

Year: 2021

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

DOI: 10.1038/s41598-021-86309-9

Year: 2021

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation

DOI: 10.1101/2021.10.03.21264281

Year: 2021

186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

DOI: 10.1016/J.JID.2021.02.206

Year: 2021

CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.

DOI: 10.34172/aim.2021.53

Year: 2021

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

DOI: 10.1111/cge.13994

Year: 2021

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants

DOI: 10.1002/jbmr.4200

Year: 2020

What are the Ethical Considerations Surrounding Induced Mutations?

How is Biotechnology Applied in Medicine?

What is Polymerase Chain Reaction (PCR)?

What Are the Implications for Treatment and Management?

What are Tyrosine Kinase Inhibitors?

What is Genetic Research?

How do ZFNs function?

What Causes CNVs?

What are Copy Number Variations (CNVs)?

What are the ethical considerations of using ZFNs?

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