Results 51 to 60 of about 11,509,666 (312)
Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability
Molecular Genetics & Genomic Medicine, 2020 Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs +7 moredoaj +1 more sourceLeprosy and the Human Genome [PDF]
Microbiology and Molecular Biology Reviews, 2010 SUMMARYDespite the availability of effective treatment for several decades, leprosy remains an important medical problem in many regions of the world. Infection withMycobacterium lepraecan produce paucibacillary disease, characterized by well-formed granulomas and a Th1 T-cell response, or multibacillary disease, characterized by poorly organized ...Elizabeth A, Misch, William R, Berrington, James C, Vary, Thomas R, Hawn +3 moreopenaire +2 more sourcesExpression of concern for global biomedical research by the human genome organization (HUGO)
Human GenomicsCuts to US science funding will stall advances in genomics affecting public health, rare disease and cancer diagnostics and therapeutics in the US and around the world.Ada Hamosh, Fabiana Arzuaga, Karen B. Avraham, Zilfalil Bin Alwi, Anne Bowcock, Sir John Burn, Piero Carninci, Collet Dandara, Iscia Lopes-Cendes, Leon Mutesa, Partha P. Majumder, Juergen K.V. Reichardt, Joris A. Veltman +12 moredoaj +1 more sourceGenome-wide Methylation Profiles Reveal Quantitative Views of Human Aging Rates
Molecules and Cells, 2012 Summary The ability to measure human aging from molecular profiles has practical implications in many fields, including disease prevention and treatment, forensics, and extension of life.Gregory Hannum, J. Guinney, Ling Zhao, Li Zhang, G. Hughes, S. Sadda, Brandy Klotzle, M. Bibikova, Jian-Bing Fan, Yuan Gao, Rob Deconde, Menzies Chen, I. Rajapakse, S. Friend, T. Ideker, Kang Zhang +15 moresemanticscholar +1 more sourceClinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer
Pediatric Blood &Cancer, EarlyView.ABSTRACT
A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson +25 morewiley +1 more sourceAccurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
Nature Biotechnology, 2019 The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang, R. Hall, G. Concepcion, Jana Ebler, A. Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, A. Töpfer, Michael Alonge, M. Mahmoud, Yufeng Qian, C. Chin, A. Phillippy, M. Schatz, G. Myers, M. DePristo, Jue Ruan, T. Marschall, F. Sedlazeck, J. Zook, Heng Li, S. Koren, Andrew Carroll, D. Rank, M. Hunkapiller +27 moresemanticscholar +1 more sourceAdmixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background
Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...Rachel D. Harris, Priya B. Shetty, Olga A. Taylor, Elizabeth G. Atkinson, Melissa A. Richard, M. Monica Gramatges, Mark Zobeck, Sandi Pruitt, Amy Hughes, M. Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Han Chen, Bing Yu, Philip J. Lupo, Karen R. Rabin, Michael E. Scheurer, Austin L. Brown, The REDIAL Consortium +24 morewiley +1 more sourceThe zebrafish reference genome sequence and its relationship to the human genome
Nature, 2013 Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of ...K. Howe, M. Clark, C. Torroja, J. Torrance, Camille Berthelot, Matthieu Muffato, J. Collins, S. Humphray, K. McLaren, L. Matthews, Stuart McLaren, I. Sealy, M. Cáccamo, C. Churcher, C. Scott, J. Barrett, Romke Koch, Gerd-Jörg Rauch, S. White, W. Chow, Britt Kilian, Leonor T. Quintais, J. A. Guerra-Assunção, Yi Zhou, Yong Gu, J. Yen, J. Vogel, T. Eyre, S. Redmond, R. Banerjee, J. Chi, B. Fu, E. Langley, Sean F. Maguire, G. Laird, D. Lloyd, E. Kenyon, S. Donaldson, H. Sehra, J. Almeida-King, J. Loveland, S. Trevanion, Matt Jones, M. Quail, D. Willey, A. Hunt, J. Burton, S. Sims, K. McLay, Bob Plumb, Joy L. Davis, C. Clee, K. Oliver, R. Clark, C. Riddle, D. Eliott, Glen Threadgold, G. Harden, D. Ware, Beverly Mortimer, G. Kerry, P. Heath, B. Phillimore, A. Tracey, N. Corby, M. Dunn, Christopher Johnson, J. Wood, S. Clark, S. Pelan, G. Griffiths, Michelle Smith, R. Glithero, P. Howden, Nicholas F. Barker, Christopher Stevens, J. Harley, K. Holt, G. Panagiotidis, J. Lovell, H. Beasley, C. Henderson, D. Gordon, Katherine Auger, D. Wright, J. Collins, C. Raisen, Lauren Dyer, Kenric Leung, Lauren Robertson, K. Ambridge, D. Leongamornlert, Sarah McGuire, Ruth Gilderthorp, C. Griffiths, Deepa Manthravadi, S. Nichol, G. Barker, S. Whitehead, M. Kay, Jacqueline Brown, Clare Murnane, Emma V. Gray, M. Humphries, N. Sycamore, Darren Barker, D. Saunders, J. Wallis, A. Babbage, S. Hammond, M. Mashreghi-mohammadi, Lucy Barr, Sancha Martin, P. Wray, A. Ellington, N. Matthews, M. Ellwood, Rebecca Woodmansey, G. Clark, James D. Cooper, A. Tromans, D. Grafham, C. Skuce, R. Pandian, R. Andrews, Elliot Harrison, A. Kimberley, J. Garnett, Nigel Fosker, R. Hall, P. Garner, Daniel Kelly, C. Bird, S. Palmer, Ines Gehring, A. Berger, Christopher M. Dooley, Zübeyde Ersan-Ürün, C. Eser, Horst Geiger, Maria Geisler, Lena Karotki, A. Kirn, Judith Konantz, M. Konantz, M. Oberländer, Silke Rudolph-Geiger, Mathias Teucke, K. Osoegawa, B. Zhu, A. Rapp, S. Widaa, C. Langford, Fengtang Yang, N. Carter, J. Harrow, Zemin Ning, Javier Herrero, S. Searle, Anton J. Enright, R. Geisler, R. Plasterk, Charles Lee, M. Westerfield, Pieter J. de Jong, L. Zon, J. Postlethwait, C. Nüsslein-Volhard, T. Hubbard, H. R. Crollius, J. Rogers, D. Stemple +171 moresemanticscholar +1 more sourceOvarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations
Pediatric Blood &Cancer, EarlyView.ABSTRACT
As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach +15 morewiley +1 more source
