All Stories

  1. Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia

    Article • Congenital Anomalies, July 2018, Wiley

    Assistant Professor Musharraf Jelani

  2. Selective glycosidase inhibitors: A patent review (2012–present)

    Article • International Journal of Biological Macromolecules, May 2018, Elsevier

    Assistant Professor Musharraf Jelani

  3. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

    Article • Scientific Reports, February 2018, Nature

    Assistant Professor Musharraf Jelani

  4. Subtractive genome analysis for in silico identification and characterization of novel drug targets in Streptococcus pneumonia strain JJA

    Article • Microbial Pathogenesis, February 2018, Elsevier

    Assistant Professor Musharraf Jelani

  5. Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia

    Article • Congenital Anomalies, March 2017, Wiley

    Assistant Professor Musharraf Jelani

  6. Whole exome sequencing analysis identifies a missense variant in COL1A2 gene which causes osteogenesis imperfecta Type IV in a family from Saudi Arabia

    Article • Journal of Musculoskeletal Surgery and Research, January 2017, Medknow

    Assistant Professor Musharraf Jelani

  7. 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

  8. Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

    Article • Saudi Journal of Biological Sciences, September 2016, Elsevier

    Assistant Professor Musharraf Jelani

  9. 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

  10. 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

  11. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

    Article • Journal of the Neurological Sciences, April 2016, Elsevier

    Assistant Professor Musharraf Jelani

  12. 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

  13. Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

    Article • BMC Research Notes, June 2015, Springer Science + Business Media

    Assistant Professor Musharraf Jelani

  14. Identification of Two Homozygous Sequence Variants in theCOL7A1Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family

    Article • Annals of Human Genetics, June 2015, Wiley

    Assistant Professor Musharraf Jelani

  15. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

    Article • Journal of the Neurological Sciences, June 2015, Elsevier

    Assistant Professor Musharraf Jelani

  16. Case of Sjögren-Larsson syndrome with a large deletion in theALDH3A2gene confirmed by single nucleotide polymorphism array analysis

    Article • The Journal of Dermatology, April 2015, Wiley

    Assistant Professor Musharraf Jelani

  17. Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

    Article • European Journal of Medical Genetics, April 2015, Elsevier

    Assistant Professor Musharraf Jelani

  18. Human semen quality and sperm DNA damage assessed bycomet assay in clinical groups

    Article • TURKISH JOURNAL OF MEDICAL SCIENCES, January 2015, The Scientific and Technological Research Council of Turkey

    Assistant Professor Musharraf Jelani

  19. 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

  20. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

    Article • Journal of Human Genetics, February 2011, Springer Science + Business Media

    Assistant Professor Musharraf Jelani

  21. 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

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

    Article • Human Heredity, January 2011, Karger Publishers

    Dr Sulman Basit, Assistant Professor Musharraf Jelani

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

    Article • Journal of Child Neurology, October 2009, SAGE Publications

    Assistant Professor Musharraf Jelani

  24. A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

    Article • The American Journal of Human Genetics, October 2009, Elsevier

    Dr Sulman Basit, Assistant Professor Musharraf Jelani, Professor Muhammad Masoom Yasinzai

  25. Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

    Article • Human Genetics, May 2008, Springer Science + Business Media

    Assistant Professor Musharraf Jelani, Professor Muhammad Masoom Yasinzai