E-ISSN 1658-8088 | ISSN 1658-807X
 

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is an international peer-reviewed, open access medical journal. It is the official journal of Saudi Society of Medical Genetics. 


Journal Title:  Journal of Biochemical and Clinical Genetics


Coverage:  Volume 1 / 2018 - to date


Print ISSN:  1234-1234

Online ISSN: 1234-1234


Topics:

  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.

Types of Manuscripts:

  • Original (Research, including Meta-analyses)
  • Review (includes Current Highlights, Commentary and opinion papers)
  • Case Reports
  • Letters to Editor
  • Editorial, Guest Editorial

Readership:  Medical and human geneticists, pediatricians, genetic counselors, population geneticists, clinical biochemists


Industry Sectors:  Healthcare and lifesciences


Keywords: medical genetics, cytogenetics, chromosome, congenital malformation, genetic testing, syndrome, clinical genetics, biochemical genetics, cancer genetics, clinical molecular genetics, formal genetics, molecular cytogenetics, journal, online journal, Genetics Journal


Publisher:  Discover STM Publishing Ltd, Cork, Ireland


Additional Links:



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    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

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  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

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    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
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    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • 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 » doi: 10.24911/JBCGenetics/183-1531469195

  • Case report of 49, XXXXY syndrome: first case in Oman
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