All Stories

  1. Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family
  2. Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families
  3. Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz–Jeghers Syndrome
  4. Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy
  5. Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN
  6. Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review
  7. In Vivo Studies on the Capacity of Greenlid Bio-traps (Glbt) to Minimize Overall Population of Aedes Aegypti/Albopictus in Dengue Risk Areas (Faisalabad)
  8. The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans
  9. A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability
  10. Macrophages M2 polarization is involved in lapatinib-mediated chemopreventive effects in the lung cancer
  11. Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
  12. Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy
  13. CRISPR/Cas9 technology as an innovative approach to enhancing the phytoremediation: Concepts and implications
  14. A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family
  15. Genetic Counseling in Inherited Disorders
  16. Genetic Testing for Rare Genetic Disorders
  17. Genome-Wide Association Studies (GWAS)
  18. Hemoglobinopathies
  19. NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes
  20. Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family
  21. Resistance, Cross-Resistance and Stability of Resistance to Bacillus Thuringiensis Kurstaki in Earias Vittella (Fabricius) (Lepidoptera: Noctuidae)
  22. Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family
  23. A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
  24. A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
  25. A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family
  26. A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome
  27. Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population
  28. Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
  29. Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
  30. Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families
  31. An update of pathogenic variants in ASPM , WDR62, CDK5RAP2 , STIL, CENPJ, and CEP135 underlying autosomal recessive primary micr...
  32. Naringenin downregulates inflammation-mediated nitric oxide overproduction and potentiates endogenous antioxidant status during hyperglycemia
  33. Hesperidin improves insulin resistance via down-regulation of inflammatory responses: Biochemical analysis and in silico validation
  34. CRISPR/Cas9: targeted genome editing for the treatment of hereditary hearing loss
  35. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families
  36. Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42
  37. Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome
  38. Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
  39. Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
  40. Genome-Wide Supported Risk Variants inMIR137,CACNA1C,CSMD1,DRD2, andGRM3Contribute to Schizophrenia Susceptibility in Pakistani Population
  41. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
  42. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
  43. Abolished InsP3R2 function inhibits sweat secretion in both humans and mice
  44. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
  45. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
  46. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
  47. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
  48. Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)
  49. A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
  50. A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect
  51. β-Thalassemia in Pakistan
  52. New perspectives on the dynamic behaviour of oral lichen planus
  53. WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome
  54. A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia
  55. Callus Induction and in vitro Plant Regeneration of Rice (Oryza sativa L.) Under Various Conditions