Journal of Biochemical and Clinical Genetics

Editor in Chief and Founder

Dr. Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG

Contact us About us

Aims & Scope

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, perimplantation genetic screening (PGS) and perimplantation 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.

Most Read Articles

Most Accessed Articles

  1. Use of HPLC-UV method for the analysis of maple syrup urine disease in plasma sample first time in Saudi Arabia
    Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain
    JBCGenetics. 2018; 1(1): 26-30
    » Abstract

  2. Journal of Biochemical and Clinical Genetics: A Great Step Forward in Genomic Research
    Majid Alfadhel
    JBCGenetics. 2018; 1(1): 1-1
    » Abstract

  3. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
    Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel
    JBCGenetics. 2018; 1(1): 47-50
    » Abstract

  4. Molecular genetics of inherited kidney disease in Saudi Arabia
    Mohamed H Al-Hamed, Faiqa Imtiaz, Jameela Kari
    JBCGenetics. 2018; 1(1): 19-25
    » Abstract

  5. Syndactyly genes and classification: a mini-review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract

  6. The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract

  7. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract

  8. Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract

  9. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
    Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 43-46
    » Abstract

  10. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract

Most Downloaded Articles

Top Downloaded Articles

  1. Journal of Biochemical and Clinical Genetics: A Great Step Forward in Genomic Research
    Majid Alfadhel
    JBCGenetics. 2018; 1(1): 1-1
    » Abstract

  2. Molecular genetics of inherited kidney disease in Saudi Arabia
    Mohamed H Al-Hamed, Faiqa Imtiaz, Jameela Kari
    JBCGenetics. 2018; 1(1): 19-25
    » Abstract

  3. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract

  4. Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract

  5. Use of HPLC-UV method for the analysis of maple syrup urine disease in plasma sample first time in Saudi Arabia
    Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain
    JBCGenetics. 2018; 1(1): 26-30
    » Abstract

  6. Syndactyly genes and classification: a mini-review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract

  7. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
    Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 43-46
    » Abstract

  8. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract

  9. The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract

  10. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
    Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel
    JBCGenetics. 2018; 1(1): 47-50
    » Abstract