Sulman Basit - Genetic Mutations

Author Information

Sulman Basit is a researcher affiliated with the Center for Genetics and Inherited Diseases at Taibah University, Almadinah Almunawwarah, Saudi Arabia. His work primarily focuses on the genetic basis of various inherited diseases and disorders.

Research Contributions

Sulman Basit has made significant contributions to the field of genetics through his research on a wide array of genetic disorders. His recent work in 2022 includes the identification of the first intragenic deletion in ABCA5 associated with autosomal recessive hypertrichosis, the association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy, and the study of ultrastructure abnormalities in collagen and elastin in patients with arterial tortuosity syndrome. Additionally, he has explored the genetic predisposition to asthma in the Pashtun population and expanded the phenotype for atypical Gaucher disease due to a homozygous missense PSAP variant in a Pakistani family. His work also includes identifying novel variants in neurodevelopmental disorders and microcephaly in Pakistani families.

Aliases

Sulman Basit is also known by the aliases S Basit and S. Basit.

Publication and Citation Metrics

Metric	Value
Citation Count	2221
h-index	24
Paper Count	145

Publications:

Exome Sequencing Revealed the First Intragenic Deletion in ABCA5 Underlying Autosomal Recessive Hypertrichosis.

DOI: 10.1111/ced.15128

Year: 2022

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

DOI: 10.1186/s12920-022-01238-4

Year: 2022

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.

DOI: 10.1111/cup.14228

Year: 2022

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

DOI: 10.1080/02770903.2021.2025391

Year: 2022

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

DOI: 10.3390/genes13040662

Year: 2022

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.

DOI: 10.1007/s10048-022-00692-7

Year: 2022

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

DOI: 10.1089/gtmb.2021.0231

Year: 2022

Clinical and genetic characteristics of Legg-Calve-Perthes disease

DOI: 10.25259/jmsr_123_2021

Year: 2021

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

DOI: 10.1002/ajmg.a.62360

Year: 2021

First Evidence of Involvement of TBC1D25 in Causing Human Male Infertility.

DOI: 10.1016/j.ejmg.2021.104142

Year: 2021

What is the Prognosis for Individuals with the Delta F508 Mutation?

What is CRISPR?

What is the Delta F508 Mutation?

What Are the Complications Associated with Hemophilia?

What are Some Examples of Autosomal Recessive Disorders?

How Does Sanger Sequencing Work?

What Causes the Genetic Mutation?

What is Gene Therapy?

What is Benzene?

What Causes Cellular Heterogeneity?

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