Mission Statement

The Journal of Biochemical and Clinical Genetics is a medical publication dedicated to the study of clinical and biochemical aspects of human genetic disorders including: inborn errors of metabolism  dysmorphology, neurogenetics, cytogenetics, genetics syndromes, newborn screening, carriers detection, epidemiology of genetic disorders, pharmacogenetics, cancer genetics, behavioral genetics, community genetics, screening of monogenic and polygenic disorders, fetal pathology, prenatal and pre-implantation genetic diagnosis and genetic counseling as well as advances in prevention and treatment of genetic disorders. The journal highlights fundamental investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Clinical application of genomics and next generation sequencing technologies are considered valuable contributions.

Aims and Scope

The Journal of Biochemical and Clinical Genetics (JBCGenetics) aims to provide continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as phenotype analysis within the current context of genotype/phenotype correlations.

As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:

  1. Biochemical Genetics: inborn errors of metabolism (IEM), newborn screening, carrier detection, mitochondrial disorders, laboratory aspects of IEM and medications used in the treatment of IEM.
  2. Clinical Genetics: descriptions of new syndromes, novel genes,  new causal and pathogenetic insights into known syndromes, advances in genetic counseling, nosology, anthropometry, and anthropology, including dermatoglyphics.
  3. Clinical Molecular Genetics: homozygosity mapping, next generation sequencing including whole exome sequencing (WES) and  whole genome sequencing (WGS).
  4. Formal Genetics: quantitative, population, and epidemiological genetics;
  5. Molecular Cytogenetics: delineation of syndromes due to chromosomal aberration.
  6. Neurogenetics: reports on novel research on the genetic mechanisms underlying neurological disorders.
  7. Reproductive Genetics: prenatal diagnosis and the genetics of prenatal and perinatal death, birth defects, preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD).
  8. Cancer Genetics and Cancer Cytogenetics: experimental and molecular approaches.
  9. Personalized Genomics: treatment structures and medicinal decisions based on a patient's predicted response or risk of disease.

The journal will also report on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the journal include clinical reports, editorials, rapid publications, and letters to the editor.

« Previous Issue

JBCGenetics. Year: 2020, Volume: 3


  1. Dual genetic diagnoses - underappreciated "double trouble"
    Christian Beetz, Peter Bauer
    JBCGenetics. 2020; 3(2): 52-53
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1600154983

  2. Original Research (Original Article)

  3. Genetic and clinical approach to macrocephaly: a 5-year single-center study
    Muhsin Elmas, Umit Can Yildirim
    JBCGenetics. 2020; 3(2): 54-59
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1594283408

  4. Role of religion/spirituality in the context of genetic counseling: health professionals' experiences in an Islamic country
    Khadijah Bakur, Jumana Al-Aama, Zuhair Alhassnan, Helen Brooks, Tara Clancy, Saud Takroni, Fiona Ulph
    JBCGenetics. 2020; 3(2): 60-70
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1596638212

  5. Association of vitamin D receptor gene fok1 polymorphism with bone health in Pakistani population
    Najam Farooq, Anwar Ullah, Abida Arshad, Navida Riaz, Jabar Zaman Khan, Sobia Tabassum, Muhammad Arshad Malik
    JBCGenetics. 2020; 3(2): 71-76
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1588174375

  6. Review Article

  7. Molecular testing approaches in thyroid cancer diagnosis
    Abdul-Mohsen Gaeth AlHejaily, Naji Jamil AlJohani
    JBCGenetics. 2020; 3(2): 77-83
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1594975192

  8. Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects
    Antonio Girolami, Elisabetta Cosi, Silvia Ferrari, Claudia Santarossa, Bruno Girolami
    JBCGenetics. 2020; 3(2): 84-93
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1592295836

  9. Prevention of hemoglobinopathies in Saudi Arabia: efficacy of national premarital screening and the feasibility of preimplantation genetic diagnosis
    Muhammad Umair, Majid Alfadhel
    JBCGenetics. 2020; 3(2): 94-99
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1595487640

  10. Case Report

  11. Opsismodysplasia and Dilated Cardiomyopathy: a case report
    Muneer Almutairi, Mohammed Almannai
    JBCGenetics. 2020; 3(2): 100-103
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1595951481

  12. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31
    Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz
    JBCGenetics. 2020; 3(2): 104-107
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1592502000

  13. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature
    Zahra Alsahlawi, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, Emtethal Aljishi
    JBCGenetics. 2020; 3(2): 108-112
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1596702951

  14. Inherited Robertsonian translocation (13;14) in a child with Down's syndrome
    Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur
    JBCGenetics. 2020; 3(2): 113-117
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1592993055