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.
2024, Vol: 7, Issue: 1
JBCGenetics. Year: 2024, Volume: 7 Original Article- Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia
Original Article- Kohlschütter–Tönz syndrome: clinical and genetic insight on patients with ROGDI variant
Original Article- IHH gene variants in North Indian individuals with brachydactyly A1
Case Report- Atypical down syndrome features with an atypical chromosomal rearrangement: a case report
Case Report- Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study
Case Report- Polyendocrinopathy, deafness and albinism, a new combination syndrome
Case Report- Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report
Case Report- Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases