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.
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.
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:
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.
The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal.
Owner: Saudi Society of Medical Genetics Riyadh, Saudi Arabia
Publisher: Discover STM Publishing Ltd, Cork, Ireland
Journal Title: Journal of Biochemical and Clinical Genetics
Coverage: Volume 1 / 2018 - to date
Print ISSN: 1234-1234
Online ISSN: 1234-1234
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
Editor-in-Chief and Founding Editor
Prof. Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Deputy Executive Director of King Abdullah International Medical Research Centre
Chairman of Genetics and Precision Medicine Department (GPM)
Director of Medical Genomic Research Lab
King Saud Bin Abdulaziz University for Health Sciences
King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia
Prof. Sylvia Stöckler-Ipsiroglu, MD, Ph.D., MBA, FRCPC
Head, Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, BC Children's Hospital Program Director, Biochemical Diseases, BC Children's Hospital, Vancouver, Canada
Prof. Dr. Arndt Rolfs, MD
University of Rostock/Germany and Centgogene AG, Rostock, Germany
Prof. Dr. Peter Bauer, MD
University of Tübingen/Germany and Centogene AG, Rostock, Germany
Prof. Paolo G.V. Martini, Ph.D.
Chief Scientific Officer and Head of Discovery Rare Diseases at Moderna, Boston, MA, USA
Prof. Clara Van karnebeek, MD, Ph.D., FCCMG
Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands
Prof. Robert William Taylor, Ph.D., DSc, FRCPath
Professor of Mitochondrial Pathology, Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom
Prof. Brahim Tabarki Melaiki, MD, FBPN, BBP
Professor of Pediatrics and Pediatric Neurology, Faculty of Medicine Ibn ElJazzar, Sousse, Tunisia
Dr. Tom J.J. Schirris, Ph.D.
Department of Pharmacology and Toxicology, Radboud University Medical Center, The Netherlands
Prof. Zuhair Rahbeeni, MD
Medical Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Dr. Eissa Faqeih, MD
Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Dr. Fuad Almutairi, MD
King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Genetics Division, Department of Pediatrics, King Abdullah Specialized Children’s Hospital, King Abdulaziz Medical City, MNG-HA, Riyadh, Saudi Arabia
Dr. Saleh Alghamdi, Ph.D.
Medical Genomics Department, King Abdullah International Medical Research Centre(KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNG-HA, Riyadh, Saudi Arabia
Dr. Mohammed Almannai, MD
Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Dr. Amal Alhashem, MD
Genetics Division, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Dr. Mohammed Alhamed, Ph.D.
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Dr. Ali Alasmari, MD
Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Dr. Ahmed Alfares, MD
Department of Pediatrics, College of Medicine, Qassim University, Almulyda, Saudi Arabia
Dr. Marwan Nashabat, MD
Genetics Division, Department of Pediatrics, King Abdullah Specialized Children’s Hospital, King Abdulaziz Medical City, MNG-HA, Riyadh, Saudi Arabia
Dr. Muhammad Umair, Ph.D.
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia
Malak Ali Alghamdi, MD, SSC-Ped ,ABHS(CH), FCCMG
Medical Genetic Division Head , College of Medicine Research Centre- Biobank Division Head, Associate Professor, Pediatric Department, College of Medicine, King Saud University, King Saud University Medical Cities, Riyadh, Saudi Arabia
Important: We are simplifying the submission experience. There is no need to submit tables and figures separately. Please include all the figures and tables in the main text document (WORD File) of your manuscript. We would ask for high-resolution images (600 dpi images in .tif format), once your article is accepted to ensure quality production of the images.
Remember: You can not withdraw after the submission. If you wish to withdraw after acceptance but before final publishing, you need to pay the processing charges incurred ($250)..
Journal Email: contact@jbcgenetics.com.
For detailed submission guidelines please follow the links below to the journal website:
Specific instructions for JBC Genetics
In general, symbols/names for genes should be italicized, whereas symbols for proteins are not required to be italicized in the manuscript.
Microarray data
All authors must comply with the 'Minimal Information About a Microarray Experiment' (MIAME) guidelines published by the Microarray Gene Expression Data Society, which can be found at http://fged.org/projects/miame/ . HMG also requires submission of microarray data to the GEO ( https://www.ncbi.nlm.nih.gov/geo/) or ArrayExpress ( https://www.ebi.ac.uk/arrayexpress/) databases, with accession numbers at or before acceptance for publication.
Genes / diseases
All manuscripts must include HGNC-approved gene symbols and OMIM reference numbers for disorders.
Describing variants
Because of the importance of the issue and the overall consensus on the rules, we have adopted an editorial policy that encourages compliance with the rules to describe sequence variants before manuscripts will be accepted and published. The most current guidelines are summarized on the website of the Human Genome Variation Society. Examples of acceptable nomenclature are also provided. Important considerations include:
- variants should be described in the text and tables using both DNA and protein designations whenever appropriate.
- if alternative nomenclature schemes are commonly found in the literature, they may also be used in addition to approved nomenclature, but they must be defined clearly.
- authors should always include the GenBank Accession Number of the relevant reference gene sequence(s) used (e.g.: RefSeq NG_123456.2, NM_987654.3 or GenBank U654321.1), in the Materials and Methods section and as a footnote in tables listing mutations.
Acceptance and/or publication will be delayed when authors do not follow the guidelines properly. Authors are advised to check sequence variant descriptions using software tools (e.g. https://www.mutalyzer.nl/ using batch mode, all variants can be analyzed at once).
Data submission
Authors are required to submit all variants included in an article to a public database, preferably a gene variant database (LSDB), prior to acceptance.
Authors must confirm the status of database submission in their cover letter. In addition, authors should note in the manuscript (e.g., in the methods section) the database(s) to which they have submitted their variants and provide the URL. We encourage the use of widely accessible genetics databases as repositories for human gene mapping information, including loci (genes, fragile sites, DNA segments), and probes. Links to gene variant databases can be obtained from the Human Genome Variation Society web site (http://www.hgvs.org/ ) or using the url "GeneSymbol".lovd.nl (e.g. TP53.lovd.nl).