S. Basit

Abdullah, S. Basit, K. Xia, 2022, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome.

S. Basit, Z. Iqbal, M. Sabar, 2012, Asian Pacific journal of cancer prevention : APJCP.

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

Z. Nawaz, S. Basit, A. Alsaeed, 2022, Journal of cutaneous pathology.

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

S. Basit, W. Ahmad, G. Ali, 2008, BMC Medical Genetics.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

Peter Natesan Pushparaj, Jennifer D. Churchill, Omran M. Rashidi, 2016, BMC Genomics.

First macrocyclic 3rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib.

Kwangho Lee, Zaman Ashraf, S. Basit, 2017, European journal of medicinal chemistry.

Genetics of developmental dysplasia of the hip: Recent progress and future perspectives

S. Basit, K. Khoshhal, J. Hashmi, 2019, Journal of Musculoskeletal Surgery and Research.

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes – a mini review

S. Basit, M. Hannan, K. Khoshhal, 2016, Clinical genetics.

Genetics of Isolated Hereditary Nail Disorder

S. Basit, 2017 .

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

Huaiyang Jiang, S. Basit, A. Rajkovic, 2018, Scientific Reports.

Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

S. Basit, A. Ullah, M. J. Khan, 2019, The application of clinical genetics.

TACG_A_200341 249..260

S. Basit, A. Ullah, M. J. Khan, 2019 .

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

S. Leal, S. Basit, W. Ahmad, 2022, Genes.

Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis

S. Basit, M. Sohaib, R. Ullah, 2021, Genes.

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families

S. Basit, W. Ahmad, Muhammad Umair, 2016, European Journal of Dermatology.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

S. Leal, D. Stephan, M. Schiller, 2011, American journal of human genetics.

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families

S. Bashir, S. Basit, J. Hashmi, 2016, Neuroscience.

An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant.

S. Basit, A. Nasir, J. Hashmi, 2019, European journal of medical genetics.

Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

S. Leal, S. Basit, W. Ahmad, 2011, Human Heredity.

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2

S. Leal, S. Basit, W. Ahmad, 2011, Human Genetics.

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II

S. Basit, Maan A. Al-Barry, A. Albalawi, 2019, Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society.

Novel OTOA mutations cause autosomal recessive non‐syndromic hearing impairment in Pakistani families

S. Basit, W. Ahmad, K. Lee, 2013, Clinical genetics.

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Lana M. Pollock, M. Adams, D. Nickerson, 2013, American journal of human genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

S. Basit, A. Albalawi, M. Albarry, 2021, PloS one.

A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.

S. Basit, W. Ahmad, M. Touseef, 2012, European Journal of Medical Genetics.

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

S. Basit, S. Khan, Waheed Ullah, 2018, Annals of human genetics.

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

S. Basit, W. Ahmad, G. Ali, 2009, Archives of Dermatological Research.

Clinical and genetic characteristics of Legg-Calve-Perthes disease

S. Basit, K. Khoshhal, 2021, Journal of Musculoskeletal Surgery and Research.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

S. Basit, W. Ahmad, M. Jelani, 2011, Clinical genetics.

Mutation screening of genes associated with congenital talipes equinovarus in pakistani families

S. Basit, Uzma Khan, Y. Khan, 2020 .

Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

S. Basit, R. Betz, M. Naeem, 2020, Acta dermato-venereologica.

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

Muhammad Sohail Zafar, S. Basit, Anhar Ullah, 2019, Scientific Reports.

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation

S. Basit, Sibtain Afzal, K. Ramzan, 2020, Global Medical Genetics.

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

S. Basit, F. Rehman, S. Khan, 2019, International journal of dermatology.

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

S. Basit, W. Ahmad, S. Wakil, 2015, Archives of Dermatological Research.

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genes

S. Basit, W. Ahmad, G. Ali, 2010, Human Genetics.

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

S. Basit, W. Ahmad, S. I. Raza, 2009, British Journal of Dermatology.

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

S. Basit, W. Ahmad, M. Jelani, 2010, Journal of child neurology.

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

S. Basit, W. Ahmad, Muhammad Umair, 2015, Journal of Human Genetics.

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect

S. Basit, J. Ahmad, Sibtain Afzal, 2019, Congenital anomalies.

The need for population-based studies to estimate the rate of consanguinity in Almadinah Almunawwarah

S. Basit, M. Hannan, K. Khoshhal, 2015 .

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.

Z. Nawaz, S. Basit, F. Al-Dayel, 2020, Cancer genetics.

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

S. Leal, C. Cremers, J. Veltman, 2010, American journal of human genetics.

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes

S. Basit, W. Ahmad, M. Ansar, 2012, Human Genetics.

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

S. Basit, W. Ahmad, Muhammad Umair, 2019, Molecular genetics & genomic medicine.

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency

S. Basit, Ahmed Almatrafi, Ali M Hibshi, 2023, Medicina.

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2

S. Basit, K. Khoshhal, A. Albalawi, 2018, Congenital anomalies.

Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome

T. Hansen, S. Basit, W. Ahmad, 2022, Medicina.

Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome

S. Basit, R. Safar, H. Al-Edressi, 2020, Journal of Nephrology.

Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome.

S. Basit, Z. Iqbal, Sibtain Afzal, 2018, Molecular Medicine Reports.

Detection of rifampicin resistance of Mycobacterium tuberculosis using multiplex allele specific polymerase chain reaction (MAS-PCR) in Pakistan.

Z. Butt, I. Ullah, S. Basit, 2019, Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases.

A novel frameshift mutation in the ITGB3 gene leading to Glanzmann's thrombasthenia in a Saudi Arabian family.

S. Basit, K. Ramzan, J. Hashmi, 2021, Hematology/oncology and stem cell therapy.

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder

S. Basit, J. Hashmi, A. Albalawi, 2020, Platelets.

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.

S. Basit, A. Wali, J. Hashmi, 2022, European journal of medical genetics.

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2‐q29

S. Basit, W. Ahmad, S. Muzaffar, 2010, The British journal of dermatology.

Vitamin D in health and disease: a literature review

S. Basit, 2013, British journal of biomedical science.

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

S. Basit, K. Ramzan, J. Hashmi, 2016, Annals of Saudi medicine.

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population

S. Basit, S. Mumtaz, S. Malik, 2015, Pakistan journal of medical sciences.

Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia

S. Basit, W. Ahmad, A. Shah, 2023, Medicina.

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

S. Basit, A. Albalawi, K. Al-Harbi, 2016, Human Genetics.

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

S. Basit, W. Ahmad, S. I. Raza, 2012, Molecular Biology Reports.

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

S. Basit, S. Mahmood, A. Mir, 2011, BMC neurology.

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

S. Basit, W. Ahmad, S. I. Raza, 2012, Molecular Biology Reports.

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay

S. Basit, A. Wali, Rafiullah Rafiullah, 2022, Journal of neurogenetics.

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

S. Basit, Z. Iqbal, M. Sabar, 2021, Biology.

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.

S. Basit, W. Ahmad, Irfanullah, 2015, Journal of dermatological science.

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.

S. Basit, M. Coenen, Z. Iqbal, 2011, Archives of medical research.

A homozygous missense variant in the Homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower-limbs weakness and neurological manifestations.

S. Basit, Muhammad Umair, M. Alfadhel, 2020, The journal of gene medicine.

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

S. Leal, S. Basit, K. Esoh, 2021, Journal of Human Genetics.

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)

S. Basit, Muzammil Ahmad Khan, S. Khan, 2022, Genes.

First direct evidence of involvement of a homozygous loss‐of‐function variant in the EPS15L1 gene underlying split‐hand/split‐foot malformation

S. Basit, W. Ahmad, S. Abbas, 2018, Clinical genetics.

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.

S. Basit, W. Ahmad, S. Wakil, 2015, Journal of dermatological science.

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment

S. Leal, S. Basit, W. Ahmad, 2018, Journal of Human Genetics.

Sequence analysis of the VSX1 and SOD1 genes in families with Keratoconus and a review of the literature

S. Basit, Maan A. Al-Barry, A. Albalawi, 2016 .

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

S. Basit, Majed Alluqmani, 2022, BMC medical genomics.

Whole Genome Sequencing instead of Whole Exome Sequencing is required to identify the Genetic Causes of Polycystic Ovary Syndrome in Pakistani families

S. Basit, J. Ahmed, M. J. Khan, 2018, Pakistan journal of medical sciences.

Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation.

M. Burmeister, S. Basit, N. Bibi, 2020, Genetic testing and molecular biomarkers.

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

S. Basit, A. Tolun, S. Malik, 2022, Genetic testing and molecular biomarkers.

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

S. Basit, W. Ahmad, M. Yousaf, 2020, Congenital anomalies.

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome

S. Basit, W. Ahmad, Muhammad Umair, 2017, Ophthalmic genetics.

Linkage analysis coupled with exome sequencing identified defects in gene ‘X’ causing premature ovarian insufficiency

S. Basit, 2014, BMC Genomics.

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

S. Basit, W. Ahmad, S. Hussain, 2021, European journal of medical genetics.

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia

S. Basit, A. Nasir, K. Ramzan, 2017, Clinical genetics.

Investigations on Novel Gene Variants Associated with Longterm Response to Tyrosine Kinase Inhibitors (TKIs) in Chronic Myeloid Leukemia: Implication in TKI-Cessation Clinical Trails

S. Basit, Z. Iqbal, M. Sabar, 2019, Blood.

A homozygous nonsense variant in DYM underlies Dyggve–Melchior–Clausen syndrome associated with ectodermal features

Abdullah, S. Basit, W. Ahmad, 2020, Molecular Biology Reports.

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

S. Basit, A. Gul, S. Shahzad, 2021, American journal of medical genetics. Part A.

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

S. Basit, W. Ahmad, G. Ali, 2021, European Journal of Dermatology.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

S. Basit, M. Jelani, Wasim Ahmad, 2011, Clinical genetics.

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

U. Surti, Huaiyang Jiang, S. Basit, 2015, The Journal of clinical investigation.

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

Sadia, S. Basit, G. Ali, 2021, American journal of medical genetics. Part A.

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up

S. Basit, Majed Alluqmani, Ahmad M Almatrafi, 2023, Biomedicines.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

S. Basit, K. Al-Harbi, Mohammed I. Samman, 2016, Human Genetics.

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

Abdullah, S. Basit, T. Hansen, 2022, Clinical and experimental dermatology.

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny

S. Basit, W. Ahmad, Muhammad Umair, 2017, Journal of Human Genetics.

Identiﬁcation and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing

S. Basit, S. Alghamdi, Abeer F. R. Alanazi, 2022 .

Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case–Control Study

S. Basit, A. Aleem, N. Alanazi, 2024, Hematology reports.

Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women

S. Basit, Ali M Hibshi, Ahmad M Almatrafi, 2024, Biomedicines.

Investigations on Clinical Validation of mutated ANKRD36 as a Novel Molecular Biomarker for Monitoring Early Progression and Timely Therapeutic Interventions in Blast Crisis CML

S. Basit, M. Absar, N. Alanazi, 2023, medRxiv.

A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation

S. Basit, G. Ali, N. Ali, 2012, Clinical genetics.

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13

S. Leal, S. Basit, W. Ahmad, 2011, Journal of Human Genetics.

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

Huaiyang Jiang, S. Basit, A. Rajkovic, 2018, Scientific Reports.