Molecular Genetics & Genomic Medicine
© 2014 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
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders
CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
A-T-Winnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity
Mutations of NOTCH3 in childhood pulmonary arterial hypertension
Recently Published Issues
New Articles Online
All MGGM articles are free to read, download and share. Editorial highlights from the latest issue are:
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia by Alice F. Goodwin, Jacinda R. Larson, Kyle B. Jones, Denise K. Liberton, Maya Landan, Zhifeng Wang, Anne Boekelheide, Margaret Langham, Vagan Mushegyan, Snehlata Oberoi, Rosalie Brao, Timothy Wen, Ramsey Johnson, Kenneth Huttner, Dorothy K. Grange, Richard A. Spritz, Benedikt Hallgrímsson, Andrew H. Jheon and Ophir D. Klein
Disease variants in genomes of 44 centenarians by Yun Freudenberg-Hua, Jan Freudenberg, Vladimir Vacic, Avinash Abhyankar, Anne-Katrin Emde, Danny Ben-Avraham, Nir Barzilai, Dayna Oschwald, Erika Christen, Jeremy Koppel, Blaine Greenwald, Robert B. Darnell, Soren Germer, Gil Atzmon and Peter Davies
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome by Peter M. Krawitz, Daniela Schiska, Ulrike Krüger, Sandra Appelt, Verena Heinrich, Dmitri Parkhomchuk, Bernd Timmermann, Jose M. Millan, Peter N. Robinson, Stefan Mundlos, Jochen Hecht and Manfred Gross
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing by Daniel Trujillano, Gemma Bullich, Stephan Ossowski, José Ballarín, Roser Torra, Xavier Estivill and Elisabet Ars
Click the button above to view the Editor's Choice from all recent issues.
Supported by Leading Journals
A number of Wiley's genetics journals support MGGM via the Manuscript transfer program:
|American Journal of Medical Genetics - Part A||Human Mutation|
|American Journal of Medical Genetics - Part B||Genetic Epidemiology|
|Clinical Genetics||Annals of Human Genetics|
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 Johan Palmfeldt, Paula Fernández-Guerra, and Rune Isak Dupont Birkler on their recently published Molecular Genetics and Genomic Medicine paper entitled, "Selected Reaction Monitoring (SRM) as an effective method for reliable quantification of disease-associated proteins in Maple Syrup Urine Disease."
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.