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. Geomapping genetic diseases in KSA, the opportunity and challenges
    Eissa A. Faqeih
    JBCGenetics. 2020; 3(1): 1-2
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1589128987

  2. Original Research (Original Article)

  3. Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Turkish population
    Muhsin Elmas, Mustafa Solak, Mehmet Yaman, Saliha Handan Yildiz, Mujgan Erdogan, Tulay Koken
    JBCGenetics. 2020; 3(1): 3-6
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1582098144

  4. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain
    Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim
    JBCGenetics. 2020; 3(1): 7-13
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1580808879

  5. Review Article

  6. Prevalence of neurometabolic diseases in Saudi Arabia
    Mohammed Almuqbil
    JBCGenetics. 2020; 3(1): 14-21
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1585310179

  7. Case Report

  8. Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1585816398

  9. Case report of 49, XXXXY syndrome: first case in Oman
    Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai
    JBCGenetics. 2020; 3(1): 28-31
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1584426923

  10. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)
    Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal
    JBCGenetics. 2020; 3(1): 32-35
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1581434307

  11. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report
    Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman
    JBCGenetics. 2020; 3(1): 36-40
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1580893176

  12. Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
    Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez
    JBCGenetics. 2020; 3(1): 41-44
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1579263463

  13. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
    Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi
    JBCGenetics. 2020; 3(1): 45-51
    » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1585821994