Eissa Ali Faqeih - Genetic Mutations

Author Information

Eissa Ali Faqeih is affiliated with the Section of Medical Genetics at Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. His research focuses on various genetic disorders, with a particular emphasis on understanding their molecular and clinical characteristics.

Research Contributions

Eissa Ali Faqeih has made significant contributions to the field of genetics through his extensive research on genetic disorders. Notable papers include his work on lethal variants in humans, mutations in TP73, and the genetic spectrum of pycnodysostosis in Saudi Arabia. His research encompasses a range of topics from molecular autopsy cohorts to the epidemiological and clinical aspects of various genetic disorders, including nephronophthisis, propionic acidemia, and succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency. His studies have expanded the understanding of genotype-phenotype correlations and the biochemical pathways involved in these conditions.

Aliases

Eissa Ali Faqeih is also known by several aliases including Eissa A. Faqeih, E A Faqeih, E Faqeih, Eissa Faqeih, Eissa A Faqeih, and Eissa Ali Faqeih.

Publication and Citation Metrics

Metric	Value
Number of Papers	155
Citation Count	5266
h-index	43

Publications:

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

DOI:

Year: 2022

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.

DOI: 10.1016/j.ajhg.2021.05.002

Year: 2021

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

DOI: 10.1002/humu.24251

Year: 2021

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

DOI: 10.3389/fped.2021.633385

Year: 2021

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

DOI: 10.1186/s13023-021-02032-8

Year: 2021

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

DOI: 10.1002/jimd.12367

Year: 2021

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings

DOI: 10.1002/ajmg.a.62230

Year: 2021

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

DOI: 10.1016/j.biochi.2021.02.003

Year: 2021

ZNF668 deficiency causes a recognizable disorder of DNA damage repair.

DOI: 10.1007/s00439-021-02321-z

Year: 2021

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

DOI: 10.1161/CIRCGEN.120.003310

Year: 2021

What Types of Prenatal Tests Are Available?

Why is Karyotyping Important in the Context of Genetic Mutations?

What are Point Mutations?

What are the Challenges Associated with TKIs?

How Can Radiation Exposure Be Measured?

Can Genetic Mutations be Prevented or Repaired?

How Can Genetic Counseling Help Families Affected by the Delta F508 Mutation?

How Do Missense Mutations Differ from Other Types of Mutations?

How Does Biotechnology Impact Environmental Conservation?

What are the Steps in Gene Cloning?

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