All Stories

  1. Demographic and Clinical Spectrum of Oral Clefts in a Clinical Cohort: A Focus on Phenotypic Heterogeneity and Sociodemographic Correlates

    Article • FACE, April 2026, SAGE Publications

    Dr Sajid Malik

  2. Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 ...

    Article • American Journal of Medical Genetics Part A, January 2026, Wiley

    Dr Sajid Malik

  3. Congenital anomalies in Okara District of Pakistan: Epidemiology, spectrum and ethno-demographic inequalities

    Article • Pakistan Journal of Medical Sciences, February 2025, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  4. Association of SFTPB Gene Polymorphisms with Chronic Obstructive Pulmonary Disease (COPD) Susceptibility in the Population of Southern Punjab, Pakistan

    Article • Pakistan Journal of Zoology, January 2025, Smith and Franklin Academic Publishing Corporation, Ltd, UK

    Dr Sajid Malik

  5. Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan

    Article • Pakistan Journal of Medical Sciences, October 2024, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  6. Prevalence-pattern of congenital and hereditary anomalies in Balochistan Province of Pakistan

    Article • Pakistan Journal of Medical Sciences, September 2024, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  7. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, August 2024, Wiley

    Dr Sajid Malik

  8. Consanguinity in northwest Pakistan: evidence of temporal decline

    Article • Journal of Biosocial Science, February 2024, Cambridge University Press

    Dr Atta Ur Rehman, Dr Sajid Malik

  9. A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family

    Article • The Yale Journal of Biology and Medicine, September 2023, Yale Journal of Biology and Medicine

    Dr Sajid Malik

  10. A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family

    Article • The Yale Journal of Biology and Medicine, September 2023, Yale Journal of Biology and Medicine

    Dr Sajid Malik

  11. Clinical and genetic attributes of congenital anomalies ascertained at a tertiary care hospital in Rawalpindi, Pakistan

    Article • Pakistan Journal of Medical Sciences, September 2023, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  12. Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan

    Article • Prosthetics and Orthotics International, January 2023, Wolters Kluwer Health

    Dr Farooq A RATHORE, Dr Sajid Malik

  13. Burden of congenital and hereditary anomalies in the war-affected territory at Pakistan–Afghanistan border

    Article • Asian Biomedicine, December 2022, De Gruyter

    Dr Sajid Malik

  14. Impact of interpregnancy intervals on perinatal and neonatal outcomes in a multiethnic Pakistani population

    Article • Journal of Tropical Pediatrics, October 2022, Oxford University Press (OUP)

    Dr Sajid Malik

  15. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

    Article • European Journal of Human Genetics, June 2022, Springer Science + Business Media

    Dr Sajid Malik

  16. Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan

    Article • Pakistan Journal of Medical Sciences, May 2022, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

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

    Article • Genetic Testing and Molecular Biomarkers, January 2022, SAGE Publications

    Dr Sajid Malik

  18. Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis

    Article • The EMBO Journal, December 2021, Springer Science + Business Media

    Dr Sajid Malik

  19. A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods

    Article • American Journal of Medical Genetics Part A, September 2021, Wiley

    Dr Sajid Malik

  20. Frequencies of ABO and Rh (D) Blood Group Phenotypes in Pashtuns of North‐Western Pakistan: A population undergoing huge demographic changes

    Article • International Journal of Immunogenetics, July 2021, Wiley

    Dr Atta Ur Rehman, Dr Sajid Malik

  21. Congenital limb defects in a married female population of the Rahim Yar Khan District in Pakistan

    Article • Asian Biomedicine, June 2021, De Gruyter

    Dr Sajid Malik

  22. CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies

    Article • European Journal of Medical Genetics, April 2021, Elsevier

    Dr Sajid Malik

  23. Prevalence-pattern and risk factors of Cesarean section in a multiethnic cohort

    Article • Pakistan Journal of Medical Sciences, March 2021, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  24. The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1

    Article • American Journal of Medical Genetics Part A, March 2021, Wiley

    Dr Sajid Malik

  25. Novel EDAR mutation in tooth agenesis and variable associated features

    Article • European Journal of Medical Genetics, September 2020, Elsevier

    Dr Sajid Malik

  26. Talipes equinovarus or Clubfoot: A review of study approaches, management and trends in Pakistan

    Article • Pakistan Journal of Medical Sciences, August 2020, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  27. Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

    Article • Journal of Human Genetics, August 2020, Springer Science + Business Media

    Dr Sajid Malik

  28. A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds

    Article • Ophthalmic Genetics, January 2020, Taylor & Francis

    Dr Sajid Malik

  29. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

    Article • Genetics in Medicine, January 2020, Elsevier

    Dr Sajid Malik

  30. Novel Polymorphism in the Promoter Region of HLA-DQB1 Is a Predictor of Anti-HCV Therapy Response

    Article • Jundishapur Journal of Microbiology, July 2019, Kowsar Medical Institute

    Dr Sajid Malik

  31. Epidemiological study of congenital and hereditary anomalies in Sialkot District of Pakistan revealed a high incidence of limb and neurological disorders

    Article • Asian Biomedicine, April 2019, De Gruyter

    Dr Sajid Malik

  32. Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

    Article • Journal of Investigative Dermatology, December 2018, Elsevier

    Dr Sajid Malik

  33. Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility

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

    Dr Sajid Malik

  34. Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly

    Article • Journal of Medical Genetics, March 2018, BMJ

    Dr Sajid Malik

  35. Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX

    Article • Skeletal Radiology, December 2017, Springer Science + Business Media

    Dr Sajid Malik

  36. Determinants of consanguinity and inbreeding coefficient in the multiethnic population of Mardan, Khyber Pakhtunkhwa, Pakistan

    Article • Asian Biomedicine, December 2017, De Gruyter

    Dr Atta Ur Rehman, Dr Sajid Malik

  37. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

    Article • Journal of Medical Genetics, November 2017, BMJ

    Dr Sajid Malik

  38. Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms

    Article • European Journal of Medical Genetics, August 2017, Elsevier

    Dr Sajid Malik

  39. Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain

    Article • American Journal of Medical Genetics Part A, June 2017, Wiley

    Dr Sajid Malik

  40. Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation

    Article • European Journal of Medical Genetics, May 2017, Elsevier

    Dr Sajid Malik

  41. Analysis of Genetic Differentiation at ABO and Rh Loci among the Pashtun Populations Inhabiting Lower Khyber Pakhtunkhwa, Pakistan

    Article • Pakistan Journal of Zoology, January 2017, Smith and Franklin Academic Publishing Corporation, Ltd, UK

    Dr Atta Ur Rehman, Dr Sajid Malik

  42. Seroprevalence of HDV among non-hospitalized HBsAg positive patients from KPK-region of Pakistan

    Article • Asian Pacific Journal of Tropical Biomedicine, July 2016, Wolters Kluwer Health

    Dr Sajid Malik

  43. Consanguinity and its socio-biological parameters in Rahim Yar Khan District, Southern Punjab, Pakistan

    Article • Journal of Health Population and Nutrition, May 2016, Springer Science + Business Media

    Dr Sajid Malik

  44. Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

    Article • Pakistan Journal of Medical Sciences, April 2016, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  45. Polymorphisms in promoter regions of IL-6 and IL-10 genes in breast cancer: a case-control study

    Article • Genetics and Molecular Research, January 2016, Genetics and Molecular Research

    Dr Sajid Malik

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

    Article • Pakistan Journal of Medical Sciences, October 2015, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  47. Descriptive epidemiology of hereditary musculoskeletaland limb defects in the isolated population of Chitral, North-West Pakistan

    Article • Pakistan Journal of Medical Sciences, October 2015, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  48. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly

    Article • American Journal of Medical Genetics Part A, September 2015, Wiley

    Dr Sajid Malik

  49. TRANSITION IN CONSANGUINITY IN DIR LOWER DISTRICT, A VICTIM OF WAR, NATURAL DISASTER AND POPULATION DISPLACEMENT, IN NORTH-WEST PAKISTAN – A RESPONSE TO STHANADAR ET AL. (2015)

    Article • Journal of Biosocial Science, June 2015, Cambridge University Press

    Dr Sajid Malik, Dr Atta Ur Rehman

  50. Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan

    Article • PLOS One, April 2015, PLOS

    Dr Rashda Abbasi, Dr Sajid Malik

  51. CONSANGUINITY AND INBREEDING COEFFICIENT IN TRIBAL PASHTUNS INHABITING THE TURBULENT AND WAR-AFFECTED TERRITORY OF BAJAUR AGENCY, NORTH-WEST PAKISTAN

    Article • Journal of Biosocial Science, January 2015, Cambridge University Press

    Dr Atta Ur Rehman, Dr Sajid Malik

  52. Distribution and clinal trends of the ABO and Rh genes in select Middle Eastern countries

    Article • Genetics and Molecular Research, January 2015, Genetics and Molecular Research

    Dr Sajid Malik

  53. Heterogeneity and diversity of ABO and Rh blood group genes in select Saudi Arabian populations

    Article • Genetics and Molecular Research, January 2015, Genetics and Molecular Research

    Dr Sajid Malik

  54. Prevalence and pattern of traumatic limb amputations in female population of Bhimber District, Azad Jammu and Kashmir, Pakistan

    Article • Pakistan Journal of Medical Sciences, December 2014, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  55. Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

    Article • The American Journal of Human Genetics, December 2014, Elsevier

    Dr antonio percesepe, Dr Sajid Malik

  56. PATTERN OF CONSANGUINITY AND INBREEDING COEFFICIENT IN SARGODHA DISTRICT, PUNJAB, PAKISTAN

    Article • Journal of Biosocial Science, October 2014, Cambridge University Press

    Dr Sajid Malik

  57. Prevalence of hepatitis C virus infection among thalassemia patients: a perspective from a multi-ethnic population of Pakistan

    Article • Asian Pacific Journal of Tropical Medicine, September 2014, Medknow

    Dr Sajid Malik

  58. Polydactyly: phenotypes, genetics and classification

    Article • Clinical Genetics, October 2013, Wiley

    Dr Sajid Malik

  59. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

    Article • Clinical Genetics, July 2013, Wiley

    Dr Sajid Malik

  60. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre‐axial polydactyly, post‐axial polydactyly, and syndactyly

    Article • American Journal of Medical Genetics Part A, July 2012, Wiley

    Dr Sajid Malik

  61. Syndactyly: phenotypes, genetics and current classification

    Article • European Journal of Human Genetics, February 2012, Springer Science + Business Media

    Dr Sajid Malik

  62. Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes

    Article • American Journal of Medical Genetics Part A, August 2010, Wiley

    Dr Sajid Malik

  63. Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development

    Article • BMC Developmental Biology, April 2010, Springer Science + Business Media

    Dr Sajid Malik

  64. Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2–q22.1 in an inbred Pakistani family

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

    Dr Sajid Malik

  65. Synpolydactyly: clinical and molecular advances

    Article • Clinical Genetics, December 2007, Wiley

    Dr Sajid Malik

  66. Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

    Article • BMC Medical Genetics, December 2007, Springer Science + Business Media

    Dr Sajid Malik

  67. Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred

    Article • European Journal of Human Genetics, November 2007, Springer Science + Business Media

    Dr Sajid Malik

  68. Ultraconserved non‐coding sequence element controls a subset of spatiotemporal GLI3 expression

    Article • Development Growth & Differentiation, July 2007, Wiley

    Dr Sajid Malik

  69. Human GLI3 Intragenic Conserved Non-Coding Sequences Are Tissue-Specific Enhancers

    Article • PLOS One, April 2007, PLOS

    Dr Sajid Malik

  70. Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2‐q12

    Article • Clinical Genetics, May 2006, Wiley

    Dr Sajid Malik

  71. Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

    Article • European Journal of Human Genetics, September 2005, Springer Science + Business Media

    Dr Sajid Malik

  72. Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

    Article • American Journal of Medical Genetics Part A, March 2005, Wiley

    Dr Sajid Malik

  73. Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

    Article • Cancer Research, August 2004, American Association for Cancer Research (AACR)

    Dr Sajid Malik

  74. A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin

    Article • American Journal of Medical Genetics Part A, October 2003, Wiley

    Dr Sajid Malik

  75. Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

    Article • Pakistan Journal of Medical Sciences, December 1969, Pakistan Journal of Medical Sciences

    Dr Sajid Malik

  76. Study of non-syndromic thumb aplasia in six independent cases.

    Article • Pakistan Journal of Medical Sciences, December 1969, Pakistan Journal of Medical Sciences

    Dr Sajid Malik