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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: 2021, Volume: 4


  1. Variants of uncertain significance is a clinical dilemma
    Majid Alfadhel
    JBCGenetics. 2021; 4(2): 68-69
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1628277210

  2. Original Research (Original Article)

  3. Genetic carrier screening for disorders included in newborn screening in the Saudi population
    Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
    JBCGenetics. 2021; 4(2): 70-75
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1614266028

  4. Effect of vitamin D3 supplementation upon the metabolic and DNA methylation profile of cystic fibrosis patients
    Maria Paula de Paiva, Dayanna Joyce Marques Queiroz, Celso Costa da Silva Junior, Constantino Giovanni Braga Cartaxo, Marina de Castro Coelho, Rafaella Cristhine Luna Pordeus, Rafaela Lira Formiga Cavalcanti de Lima, Darlene Camati Persuhn, Alexandre Sergio Silva, Naila Francis Paulo de Oliveira, Maria da Conceicao Rodrigues Goncalves
    JBCGenetics. 2021; 4(2): 76-84
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1613502878

  5. Knowledge and awareness of genetic diseases among residents of the western region of Saudi Arabia
    Abdulmajeed Fahad Alrefaei, Ahmed B. Ashoor, Ibrahim S. Alzahrani, Ibrahim Y. Tarbiyyah, Muath Alrehily, Rayyan S. Alharbi, Sameer H. Qari
    JBCGenetics. 2021; 4(2): 85-92
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1609181653

  6. Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing
    Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari
    JBCGenetics. 2021; 4(2): 93-99
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1603863426

  7. Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia
    Alya Qari, Moeen Al-Sayed, Zuhair Al-Hassnan, Amin Kashmeery
    JBCGenetics. 2021; 4(2): 100-111
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1619687090

  8. Case Report

  9. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause
    Sawsan Abdullah, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 112-114
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1614443590

  10. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report
    Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 115-117
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1612612814

  11. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis
    Rehab Al Jawad, Omhani Malibari
    JBCGenetics. 2021; 4(2): 118-121
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1609604470

  12. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report
    Mohammed Omar Galal, Mohamed Hesham Mashali, Ahmad Zaheer, Zuhair Rahbeeni
    JBCGenetics. 2021; 4(2): 122-125
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1613027889