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:
- 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.
- 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.
- Clinical Molecular Genetics: homozygosity mapping, next generation sequencing including whole exome sequencing (WES) and whole genome sequencing (WGS).
- Formal Genetics: quantitative, population, and epidemiological genetics;
- Molecular Cytogenetics: delineation of syndromes due to chromosomal aberration.
- Neurogenetics: reports on novel research on the genetic mechanisms underlying neurological disorders.
- Reproductive Genetics: prenatal diagnosis and the genetics of prenatal and perinatal death, birth defects, preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD).
- Cancer Genetics and Cancer Cytogenetics: experimental and molecular approaches.
- 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.
2023, Vol: 6, Issue: 2
JBCGenetics. Year: 2023, Volume: 6 Editorial- Artificial Intelligence in Genomic Analysis: Revolutionizing Healthcare
Majid Alfadhel
JBCGenetics. 2023; 6(2): 089-090
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1709450443
Original Article- Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly
Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair
JBCGenetics. 2023; 6(2): 091-096
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1672678766
Original Article- Construction and validation of an immunity-related prognostic signature for lung squamous cell carcinoma
Qing Yue, Wei Han, Ziling Liu, Zain Abbas, Akmal Zubair, Saba Beigh, Hayaa Mohammad Alhuthali, Hind A. Alzahrani, Rasha Mohammed Saleem, Nahed S. Alharthi
JBCGenetics. 2023; 6(2): 097-105
» Abstract » PDF» doi: 10.24911/JBCGenetics/183-1674209873
Review Article- Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review
Mujahid Khan, Muhammad Umair
JBCGenetics. 2023; 6(2): 106-118
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1696867179
Review Article- Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association
Basamat AlMoallem
JBCGenetics. 2023; 6(2): 119-128
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1695642812
Case Report- Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy
Najla Binsabbar, Sadia Tabassum
JBCGenetics. 2023; 6(2): 129-132
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1698921213
Case Report- WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.
Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi
JBCGenetics. 2023; 6(2): 133-137
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1696016763
Case Report- A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan
JBCGenetics. 2023; 6(2): 138-143
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1690703389
Case Report- Molecular Dynamics Simulation of KIT Mutation in a Patient wıth Piebaldism, Congenital Cataract and Aphakic Glaucoma
Fahrettin Duymus, Banu Bozkurt, Ali Sahin, Huseyin Babayev, Sibel Ersoy Evans, Betul Saylik, Tulin Cora
JBCGenetics. 2023; 6(2): 144-148
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1677940397
Case Report- A case of Ellis-van Creveld syndrome in Palestine
Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh
JBCGenetics. 2023; 6(2): 149-152
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1675543817
Case Report- Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.
Ines Ben Abdallah Bouhjar, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, Hatem Elghezal
JBCGenetics. 2023; 6(2): 153-158
» Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1672039791