Education
Academic Background-
Ph.D. Quaid-i-Azam University, Islamabad, Pakistan Molecular Biology | Completed: 2012
Publications (99)
Selected Scholarly Contributions
FGF12
‐Related Early‐Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers
2026
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection
2025
Zellweger syndrome; identification of mutations in
PEX19
and
PEX26
gene in Saudi families
2025
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
2024
Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia
2024
Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women
2024
Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia
2024
A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family
2024
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia
2023
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency
2023
Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
2023
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
2023
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family
2022
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
2022
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis
2022
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
2022
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion
2022
Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome
2022
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)
2022
A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Sulman Basit
2022
Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.
Sulman Basit
2022
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
Sulman Basit
2022
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual development
2021
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant
2021
Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis
2021
An intrafamilial phenotypic variability in
Ellis‐Van
Creveld syndrome due to a novel 27 bps deletion mutation
2021
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
2021
Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia
2021
Woodhouse–Sakati syndrome in a family is associated with a homozygous start loss mutation in the
DCAF
17
gene
2020
2020
Missense Mutations in theCTSCGene in Saudi Families Segregating Papillon-Lefèvre Syndrome
2020
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome
2020
A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations
2020
Detection of rifampicin resistance of Mycobacterium tuberculosis using multiplex allele specific polymerase chain reaction (MAS-PCR) in Pakistan
2019
XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect
2019
An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant
2019
Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families
2019
Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
2019
Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II
2019
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption
2019
2019
Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2
2018
Latest perspectives of orally bioavailable 2,4-diarylaminopyrimidine analogues (DAAPalogues) as anaplastic lymphoma kinase inhibitors: discovery and clinical developments
2018
First direct evidence of involvement of a homozygous loss‐of‐function variant in the EPS15L1 gene underlying split‐hand/split‐foot malformation
2018
2018
Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source
2018
Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients
2018
Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment
2018
Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip
2017
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.
Sulman Basit
2017
A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.
Sulman Basit
2017
Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
Sulman Basit
2017
First macrocyclic 3rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib.
Sulman Basit
2017
A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Sulman Basit
2017
Sequence analysis of the VSX1 and SOD1 genes in families with Keratoconus and a review of the literature
2016
Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
Sulman Basit
2016
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
Sulman Basit
2016
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.
Sulman Basit
2016
2016
Developmental dysplasia of the hip: Usefulness of next generation genomic tools for characterizing the underlying genes-a mini review.
Sulman Basit
2016
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Sulman Basit
2016
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
Sulman Basit
2016
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Sulman Basit
2016
2015
Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.
Sulman Basit
2015
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.
Sulman Basit
2015
2015
Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.
Sulman Basit
2015
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
Sulman Basit
2015
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: Broadening the phenotypic manifestation of syndrome in Pakistani population.
Sulman Basit
2015
A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
Sulman Basit
2014
A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
Sulman Basit
2013
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
Sulman Basit
2013
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Sulman Basit
2013
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Sulman Basit
2013
2013
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
Sulman Basit
2012
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.
Sulman Basit
2012
A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.
Sulman Basit
2012
Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome.
Sulman Basit
2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Sulman Basit
2012
Five most common prognostically important fusion oncogenes are detected in the majority of Pakistani pediatric acute lymphoblastic leukemia patients and are strongly associated with disease biology and treatment outcome.
Sulman Basit
2012
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
Sulman Basit
2011
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Sulman Basit
2011
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
Sulman Basit
2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Sulman Basit
2011
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
Sulman Basit
2011
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.
Sulman Basit
2011
Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Sulman Basit
2011
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
Sulman Basit
2011
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
Sulman Basit
2011
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati Syndrome (WSS) in a consanguineous family of Pakistani origin.
Sulman Basit
2011
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
Sulman Basit
2010
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
Sulman Basit
2010
Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.
Sulman Basit
2010
Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.
Sulman Basit
2010
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
Sulman Basit
2009
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
Sulman Basit
2009
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
Sulman Basit
2009