Molecular Genetics & Genomic Medicine
© Wiley Periodicals, Inc.
Each article is made available under the terms of the Creative Commons Attribution License
Editor-in-Chief: Maximilian Muenke, M.D., Deputy Editor: Suzanne Hart, Ph.D.
Online ISSN: 2324-9269
Featured "Early View" Articles
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease
Recently Published Issues
New Articles Online
All MGGM articles are free to read, download and share. Editorial highlights from the latest issue are:
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences by Kohei Fujikura
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing by Jesse M. Hunter, Mary Ellen Ahearn, Christopher D. Balak, Winnie S. Liang, Ahmet Kurdoglu, Jason J. Corneveaux, Megan Russell, Matthew J. Huentelman, David W. Craig, John Carpten, Stephen W. Coons, Daphne E. DeMello, Judith G. Hall, Saunder M. Bernes and Lisa Baumbach-Reardon
Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation by Shih-Kai Wang, Yuanyuan Hu, Jie Yang, Charles E. Smith, Stephanie M. Nunez, Amelia S Richardson, Soumya Pal, Andrew C. Samann, Jan C.-C. Hu and James P. Simmer
Supported by Leading Journals
A number of Wiley's genetics journals support MGGM via the Manuscript transfer program:
The National Human Genome Research Institute and the National Heart, Lung, and Blood Institute have partnered to support the discovery of variant genes underlying Mendelian disorders at three Centers for Mendelian Genomics. Click here for more information.
New Video Highlight
New video highlight created by Anna Middleton on her recently published Molecular Genetics and Genomic Medicine paper entitled, "Genetic counselors and Genomic Counseling in the United Kingdom."
Meet the Editor
Dr. Max Muenke trained in Pediatrics in his native Germany. He pursued postdoctoral training in Human Genetics at Yale and the University of Pennsylvania and completed a fellowship in Clinical Genetics at the Children’s Hospital of Philadelphia. For the past two decades, the focus of his research has been on the delineation and identification of the underlying causes of craniofacial anomalies in humans. His lab made seminal discoveries in linking Sonic Hedgehog signaling to normal and abnormal brain development in humans and has identified over a dozen genes involved in holoprosencephaly, the most common anomaly of the developing forebrain. His group identified several genes important in craniofacial disorders including the most common craniosynostosis syndrome, now termed Muenke syndrome. More recently, his lab has identified susceptibility loci for the most common behavioral disorder in childhood, Attention-Deficit/Hyperactivity Disorder (ADHD), with further research focused on predicting severity, treatment response, and long-term outcome. Dr. Muenke is also interested in personalized medicine, from understanding rare and common diseases to their treatment and prevention.
Call for Papers
We are delighted to invite you to submit your paper to Molecular Genetics & Genomic Medicine. Papers are welcomed reporting research in the fields of genetic medicine and human molecular genetics. Examples include:
• genomic analysis of inherited disorders
• reports of novel disease-causing mutations and polymorphisms
• functional studies of mutant gene products
• in-depth documentation of genotype-phenotype analysis
• clinical case reports
• novel approaches to clinical diagnosis
• new applications of molecular diagnostic methods
• reports describing genetic databases
• medical bioinformatics
• genetic epidemiology
As an author publishing in MGGM you would benefit from:
• High standard, rigorous peer review
• Rapid publication
• Open access: articles are published under Creative Commons license and authors are the copyright holder
• Fully compliant with open access mandates
• Wide dissemination
• Promotion and publicity of quality research
• Wiley's tradition in publishing excellence in human and medical genetics
Original research papers must report well-conducted research with conclusions supported by the data presented.
Under the NIH public access policy, final articles will be deposited by Wiley into PubMed Central, with no embargo. Please see here for further details.