Mohammed Almannai - Genetic Mutations

Author Information

Dr. Mohammed Almannai is affiliated with the Genetics and Precision Medicine Department at the King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. His work spans various aspects of genetics, with a focus on developmental and neurodevelopmental disorders.

Research Contributions

Dr. Almannai has made significant contributions to the field of genetics, with particular attention to developmental and epileptic encephalopathies, neurodevelopmental disorders, and metabolic seizures. His research has led to the identification of new genetic variants associated with these conditions, providing deeper insights into their molecular underpinnings. Notably, his work on uridine monophosphate (UMP)-responsive encephalopathy and the discovery of THUMPD1 bi-allelic variants have been pivotal in understanding the genetic basis of these disorders.

Aliases

Dr. Almannai is also known by the following aliases: M Almannai, M. Almannai, and Mohammed Almannai.

Publication and Citation Metrics

Metric	Value
Citation Count	1026
H-index	16
Paper Count	56

Publications:

Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature

DOI: 10.1016/j.ymgmr.2021.100835

Year: 2022

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

DOI: 10.1016/j.ajhg.2022.02.001

Year: 2022

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: further delineation of the phenotype and genotype.

DOI: 10.1111/cge.14132

Year: 2022

A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.

DOI: 10.1111/cge.14126

Year: 2022

Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience

DOI: 10.1016/j.ijpam.2021.03.002

Year: 2021

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.

DOI: 10.1016/j.ajhg.2021.05.002

Year: 2021

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

DOI: 10.3389/fped.2021.633385

Year: 2021

Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline

DOI: 10.3389/fnmol.2021.682780

Year: 2021

Tyrosinemia Type I: an unusual case presentation

DOI: 10.24911/jbcgenetics/183-1624791068

Year: 2021

Metabolic Seizures

DOI: 10.3389/fneur.2021.640371

Year: 2021

What is Mutation?

What are the Future Directions?

What is Genome Editing?

What is Sanger Sequencing?

How do Duplications Occur?

How is the Regulatory Framework for Genetic Mutations in Agriculture?

How Do PARP Inhibitors Work?

How is Sickle Cell Anemia Diagnosed?

What Is the Role of Mutations in Evolution?

How is Hemophilia Inherited?

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