Khushnooda Ramzan - Genetic Mutations

Author Information

Khushnooda Ramzan is affiliated with the Department of Genetics and Research Centre at King Faisal Specialist Hospital & Research Centre in Riyadh. Her research work primarily focuses on genetic disorders and their implications in various populations, with a notable emphasis on highly consanguineous populations.

Research Contributions

Khushnooda Ramzan has made significant contributions to the field of genetics, particularly in understanding genetic predispositions and manifestations of various diseases. Her research includes studies on asthma predisposition, hepatic manifestations of enzyme deficiencies, genetic bases of pulmonary arterial hypertension, and cardiac structural abnormalities in mucopolysaccharidosis. She has also explored novel genetic variants and biomarkers in chronic myeloid leukemia and isolated hair loss, emphasizing the role of ciliopathy genes in multisystem phenotypes.

Aliases

The author is known by several aliases, including K Ramzan, K. Ramzan, and Khushnooda Ramzan.

Publication and Citation Metrics

Metric	Value
Citation Count	1392
H-index	18
Paper Count	96

Publications:

Association between 17q21 Variants and Asthma Predisposition in Pashtun Population from Pakistan.

DOI: 10.1080/02770903.2021.2025391

Year: 2022

Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.

DOI: 10.1055/s-0040-1714698

Year: 2021

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

DOI: 10.21203/rs.3.rs-828519/v1

Year: 2021

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

DOI: 10.20944/preprints202108.0498.v1

Year: 2021

A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family

DOI: 10.1684/ejd.2021.4053

Year: 2021

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

DOI: 10.3390/biology10111182

Year: 2021

Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population

DOI: 10.1177/20458940211032057

Year: 2021

Echocardiographic features and behavior of cardiac structural abnormalities in mucopolysaccharidosis

DOI: 10.1093/EHJCI/JEAA356.086

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

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

DOI: 10.1007/s00439-021-02406-9

Year: 2021

Can Genetic Mutations be Treated or Cured?

How are Genetic Mutations Identified?

What are the Applications of Populace Genomics?

What is the Link Between Tobacco Mutagens and Cancer?

What is Gene Amplification?

What Are the Implications of Genetic Research on ASD?

What are Some Examples of Medications Affected by Genetic Mutations?

What Are Mutations?

How Do Genetic Mutations Influence ASD?

What is the Future of Genetic Mutation Diagnostics?

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