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Molecular Genetics & Genomic Medicine

Each article is made available under the terms of the Creative Commons Attribution License

Cover image for Vol. 2 Issue 6

Editor-in-Chief: Maximilian Muenke, M.D., Deputy Editor: Suzanne Hart, Ph.D.

Online ISSN: 2324-9269

Featured "Early View" Articles

  • Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

    Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

    In a cohort of 19 Bietti crystalline dystrophy (BCD) patients we describe four novel CYP4V2 mutations, as well as the first reported heterozygous deletion of CYP4V2, thus expanding the molecular pathogenesis of BCD.

  • Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

    Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

    We characterized the dentitions of Wnt10a null mice and observed mandibular fourth molars, abnormal molar cusp patterning, molar root taurodontism, and distinctive basal–lingual wedge-shaped defects in mandibular incisors. We characterized the dentitions six families with WNT10A mutations in the absence of EDA, EDAR, or EDARADD defects and observed, in heterozygotes, molar root taurodontism and mild tooth agenesis, and in homozygotes, severe tooth agenesis and molars with fewer cusps. This expands the known clinical phenotype in WNT10A families and demonstrates differences in the roles of Wnt signaling in early tooth development between mice and humans.

  • Genetic variability of microRNA regulome in human

    Genetic variability of microRNA regulome in human

    We present the most systematic and extensive review of current knowledge related to genetic variability within miRNA regulome. We complemented the missing terminology, organized miRNA associated polymorphisms into four categories, reviewed existing bioinformatics tools and catalogs, and developed two catalogs related to polymorphic silencing machinery. The results of this study will be useful in further functional studies and development of biomarkers associated with diseases and phenotype traits.

  • Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

    Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

    The molecular defects underlying Alpers syndrome are poorly understood. With the help of whole exome sequencing we have detected mutations in NARS2 and PARS2, the genes encoding the mitochondrial asparaginyl- and prolyl-tRNA synthetases in two patients with Alpers syndrome. To the best of our knowledge, this is the first report linking these two genes to human disease.

  • Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

    Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

    Primary hyperoxaluria is diagnosed using sequential Sanger sequencing of the three causative genes, which can be a slow and expensive process. In this study, Sanger sequencing results for 200 referred patients were reviewed, identifying that 25% of patients were potentially undiagnosed as full gene sequencing was not requested. To overcome this diagnostic gap, a targeted Next Generation Sequencing assay for the simultaneous analysis of all three genes was evaluated in 90 affected patients. Results showed 98% agreement with Sanger sequencing and diagnostic sensitivity was 97%. Use of NGS would prevent undue diagnostic delay which is associated with poorer patient outcome.

  • Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy
  • Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds
  • Genetic variability of microRNA regulome in human
  • Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
  • Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

Recently Published Issues

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Editorial Highlights

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 A  Human Mutation
 American Journal of Medical Genetics - Part B  Genetic Epidemiology
  American Journal of Medical Genetics - Part B  Genetic Epidemiology
 Clinical Genetics Annals of Human Genetics
  Clinical Genetics Annals of Human Genetics

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Centers for Medelian Genomics

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

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New video highlight created by Timothy K. McDaniel, Aleksandar Sekulic, David W. Craig, and John Carpten on their recently published Molecular Genetics and Genomic Medicine paper entitled, "Personalized treatment of Sézary syndrome by targeting a novel CTLA4:CD28 fusion."

Meet the Editor

Meet the Editor

Maximilian MuenkeRead Dr. Muenke's inaugural editorial.

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

Submit now!

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.

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