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  1. Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant

    Article • Neurological Sciences, September 2025, Springer Science + Business Media

    Dr. Muhammad Naeem

  2. Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita

    Article • Biochemical Genetics, July 2025, Springer Science + Business Media

    Dr. Muhammad Naeem

  3. Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease

    Article • Acta Epileptologica, January 2025, Springer Science + Business Media

    Dr. Muhammad Naeem

  4. Correction: Habib et al. Thiolated Chitosan Microneedle Patch of Levosulpiride from Fabrication, Characterization to Bioavailability Enhancement Approach. Polymers 2022, 14, 415

    Article • Polymers, December 2024, MDPI AG

    Dr. Muhammad Naeem, Dr Mohamed M Abdel-Daim

  5. Ultrasound-Mediated In Vivo Biodistribution of Coumarin-Labeled Sorafenib-Loaded Liposome-Based Nanotheranostic System

    Article • Nanomedicine, October 2022, Taylor & Francis

    Dr. Muhammad Naeem

  6. Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families

    Article • Genes, March 2022, MDPI AG

    Dr. Muhammad Naeem

  7. Thiolated Chitosan Microneedle Patch of Levosulpiride from Fabrication, Characterization to Bioavailability Enhancement Approach

    Article • Polymers, January 2022, MDPI AG

    Dr. Muhammad Naeem, Dr Mohamed M Abdel-Daim

  8. Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes

    Article • Biomolecules, April 2021, MDPI AG

    Dr. Muhammad Naeem

  9. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

    Article • The American Journal of Human Genetics, February 2021, Elsevier

    Dr. Muhammad Naeem

  10. Tyrosine phosphorylation as a regulator of dystrophin and beta-dystroglycan interaction: A molecular insight

    Article • Journal of Molecular Graphics and Modelling, September 2020, Elsevier

    Dr. Muhammad Naeem

  11. Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism

    Article • Frontiers in Neurology, May 2020, Frontiers

    Dr. Muhammad Naeem

  12. Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

    Article • Journal of Pediatric Endocrinology and Metabolism, April 2020, De Gruyter

    Dr. Muhammad Naeem

  13. Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family

    Article • Journal of Pediatric Endocrinology and Metabolism, April 2020, De Gruyter

    Dr. Muhammad Naeem

  14. Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing

    Article • Genetic Testing and Molecular Biomarkers, February 2020, Mary Ann Liebert Inc

    Dr. Muhammad Naeem

  15. Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

    Article • Journal of Pediatric Endocrinology and Metabolism, December 2019, De Gruyter

    Dr. Muhammad Naeem

  16. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant

    Article • Journal of Pediatric Endocrinology and Metabolism, November 2019, De Gruyter

    Dr. Muhammad Naeem

  17. Genetic Epidemiology Reveals 3 Chronic Reservoir Areas With Recurrent Population Mobility Challenging Poliovirus Eradication in Pakistan

    Article • Clinical Infectious Diseases, October 2019, Oxford University Press (OUP)

    Dr. Muhammad Naeem

  18. Proteomic genotyping of fingermark donors with genetically variant peptides

    Article • Forensic Science International Genetics, September 2019, Elsevier

    Dr. Muhammad Naeem

  19. Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias

    Article • Clinical Biochemistry, July 2019, Elsevier

    Dr. Muhammad Naeem

  20. Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis

    Article • Journal of Proteomics, June 2019, Elsevier

    Dr. Muhammad Naeem

  21. Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing

    Article • Genetic Testing and Molecular Biomarkers, June 2019, Mary Ann Liebert Inc

    Dr. Muhammad Naeem

  22. Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes

    Article • Experimental Dermatology, May 2019, Wiley

    Dr. Muhammad Naeem

  23. Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype

    Article • Molecular Biology Reports, February 2019, Springer Science + Business Media

    Dr. Muhammad Naeem

  24. Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family

    Article • Annals of Dermatology, January 2019, Korean Dermatological Association and The Korean Society for Investigative Dermatology (KAMJE)

    Dr. Muhammad Naeem

  25. Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome)

    Article • Human Heredity, January 2019, Karger Publishers

    Dr. Muhammad Naeem

  26. Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family

    Article • Genetic Testing and Molecular Biomarkers, December 2018, Mary Ann Liebert Inc

    Dr. Muhammad Naeem

  27. Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis

    Article • Pediatrics & Neonatology, December 2018, Elsevier

    Dr. Muhammad Naeem

  28. Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis

    Article • Journal of Genetics, October 2018, Springer Science + Business Media

    Dr. Muhammad Naeem

  29. Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing

    Article • Genetic Testing and Molecular Biomarkers, September 2018, Mary Ann Liebert Inc

    Dr. Muhammad Naeem

  30. Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

    Article • Journal of Human Genetics, July 2018, Springer Science + Business Media

    Dr. Muhammad Naeem

  31. Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family

    Article • Molecular Biology Reports, June 2018, Springer Science + Business Media

    Dr. Muhammad Naeem

  32. Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family

    Article • British Journal of Dermatology, October 2017, Wiley

    Noreen Karim, Dr. Muhammad Naeem

  33. Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

    Article • Seizure, October 2017, Elsevier

    Dr. Muhammad Naeem

  34. Appraisal of phytochemical and in vitro biological attributes of an unexplored folklore: Rhus Punjabensis Stewart

    Article • BMC Complementary and Alternative Medicine, March 2017, Springer Science + Business Media

    Prof. Dr. Gul Majid Khan, Dr. Muhammad Naeem

  35. A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

    Article • Journal of Clinical Research in Pediatric Endocrinology, December 2016, Journal of Clinical Research of Pediatric Endocrinology

    Assistant Professor Musharraf Jelani, Dr. Muhammad Naeem

  36. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

    Article • Archives of Oral Biology, July 2016, Elsevier

    Assistant Professor Musharraf Jelani, Dr. Muhammad Naeem

  37. A door-to-door survey to estimate the prevalence of Parkinsonism in Pakistan

    Article • June 2016, Dove Medical Press

    Ghulam Nabi, Dr. Muhammad Naeem

  38. Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family

    Article • Journal of Dermatological Science, April 2016, Elsevier

    Assistant Professor Musharraf Jelani, Dr. Muhammad Naeem

  39. Whole-exome sequencing identifies a novel LRAT mutation underlying retinitis punctata albescens in a consanguineous Pakistani family

    Article • Genes & Genomics, July 2015, Springer Science + Business Media

    Assistant Professor Musharraf Jelani, Dr. Muhammad Naeem

  40. ‘Human bocavirus in Pakistani children with gastroenteritis'

    Article • Journal of Medical Virology, January 2015, Wiley

    Dr. Muhammad Naeem

  41. Viral Etiologies of Acute Dehydrating Gastroenteritis in Pakistani Children: Confounding Role of Parechoviruses

    Article • Viruses, January 2015, MDPI AG

    Dr. Muhammad Naeem

  42. Molecular study of X-linked ichthyosis: Report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient

    Article • Journal of Dermatological Science, May 2014, Elsevier

    Dr. Muhammad Naeem

  43. A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family

    Article • European Journal of Medical Genetics, January 2014, Elsevier

    Dr. Muhammad Naeem

  44. Human Parechovirus Genotypes -10, -13 and -15 in Pakistani Children with Acute Dehydrating Gastroenteritis

    Article • PLOS One, November 2013, PLOS

    Dr. Muhammad Naeem

  45. Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family

    Article • The Journal of Dermatology, September 2013, Wiley

    Dr. Muhammad Naeem

  46. UGT1A1Gene Mutations in Pakistani Children Suffering from Inherited Nonhemolytic Unconjugated Hyperbilirubinemias

    Article • Annals of Human Genetics, August 2013, Wiley

    Professor Muhammad Masoom Yasinzai, Dr. Muhammad Naeem

  47. Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene

    Article • British Journal of Dermatology, August 2013, Wiley

    Dr. Muhammad Naeem

  48. Epidemiology and Genetic Diversity of Rotavirus Strains in Children with Acute Gastroenteritis in Lahore, Pakistan

    Article • PLOS One, June 2013, PLOS

    Dr. Muhammad Naeem

  49. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

    Article • Diagnostic Pathology, May 2013, Springer Science + Business Media

    Assistant Professor Musharraf Jelani, Dr. Muhammad Naeem

  50. Serotype Diversity of Astroviruses in Rawalpindi, Pakistan during 2009–2010

    Article • PLOS One, April 2013, PLOS

    Dr. Muhammad Naeem

  51. Identification of human parechovirus genotype, HPeV-12, in a paralytic child with diarrhea

    Article • Journal of Clinical Virology, December 2012, Elsevier

    Dr. Muhammad Naeem

  52. Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients

    Article • BMC Gastroenterology, August 2012, Springer Science + Business Media

    Dr. Muhammad Naeem

  53. Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32

    Article • Journal of Dermatological Science, February 2011, Elsevier

    Assistant Professor Musharraf Jelani, Dr. Muhammad Naeem

  54. Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family

    Article • Diagnostic Pathology, January 2011, Springer Science + Business Media

    Dr. Muhammad Naeem

  55. Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease

    Article • American Journal of Nephrology, January 2011, Karger Publishers

    Dr. Muhammad Naeem

  56. Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia

    Article • Australasian Journal of Dermatology, August 2010, Wiley

    Dr. Muhammad Naeem

  57. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin

    Article • BMC Medical Genetics, August 2009, Springer Science + Business Media

    Dr. Muhammad Naeem

  58. Pure hair?nail ectodermal dysplasia maps to chromosome 12p11.1?q21.1 in a consanguineous Pakistani family

    Article • Clinical and Experimental Dermatology, September 2007, Wiley

    Dr. Muhammad Naeem

  59. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12?q21.2

    Article • British Journal of Dermatology, December 2006, Wiley

    Dr. Muhammad Naeem

  60. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

    Article • Journal of Medical Genetics, August 2005, BMJ

    Dr. Muhammad Naeem

  61. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia

    Article • British Journal of Dermatology, July 2005, Wiley

    Dr. Muhammad Naeem