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  1. 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

  2. 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

  3. 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

  4. 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

  5. Proteomic genotyping of fingermark donors with genetically variant peptides

    Article • Forensic Science International Genetics, September 2019, Elsevier

    Dr. Muhammad Naeem

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

    Article • Clinical Biochemistry, July 2019, Elsevier

    Dr. Muhammad Naeem

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

    Article • Journal of Proteomics, June 2019, Elsevier

    Dr. Muhammad Naeem

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

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

    Article • Pediatrics & Neonatology, December 2018, Elsevier

    Dr. Muhammad Naeem

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

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

    Article • June 2016, Dove Medical Press

    Ghulam Nabi, Dr. Muhammad Naeem

  23. 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

  24. 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

  25. ‘Human bocavirus in Pakistani children with gastroenteritis'

    Article • Journal of Medical Virology, January 2015, Wiley

    Dr. Muhammad Naeem

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

    Article • Viruses, January 2015, MDPI AG

    Dr. Muhammad Naeem

  27. 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

  28. 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

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

    Article • PLoS ONE, November 2013, PLOS

    Dr. Muhammad Naeem

  30. 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

  31. 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

  32. 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

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

    Article • PLoS ONE, June 2013, PLOS

    Dr. Muhammad Naeem

  34. 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

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

    Article • PLoS ONE, April 2013, PLOS

    Dr. Muhammad Naeem

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

    Article • Journal of Clinical Virology, December 2012, Elsevier

    Dr. Muhammad Naeem

  37. 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

  38. 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

  39. 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

  40. 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

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

    Article • Australasian Journal of Dermatology, August 2010, Wiley

    Dr. Muhammad Naeem

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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