المؤلفون: Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson, James D. Stephenson, Eugene J. Gardner, Holly Ironfield, Andrew J. Waters, Daniel Gitterman, Sarah Lindsay, Federico Abascal, Iñigo Martincorena, Anna Kolesnik-Taylor, Elise Ng-Cordell, Helen V. Firth, Kate Baker, John R. B. Perry, David J. Adams, Sebastian S. Gerety, Matthew E. Hurles

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/787606f0736b45d2b045e1283e0cd595

المؤلفون: Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd

المؤلفون: Fengqiu Diao, Holly Ironfield, Haojiang Luan, Feici Diao, William C. Shropshire, John Ewer, Elizabeth Marr, Christopher J. Potter, Matthias Landgraf, Benjamin H. White

المصدر: Cell Reports, Vol 10, Iss 8, Pp 1410-1421 (2015)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124715001011; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/ce64a40b9434450e8d54a6c670a29143

المؤلفون: Maria O. Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c4cbb0278fd0279fd1689af80476ba3a
https://doi.org/10.1101/2022.07.15.500213

المؤلفون: Katherine Lachlan, Elena Prigmore, Emma Clement, Patrick J. Short, Katrina Prescott, David R. FitzPatrick, Petr Danecek, Kate Chandler, Holly Ironfield, Alejandro Sifrim, Helen V. Firth, Giuseppe Gallone, Matthew E. Hurles, Tarjinder Singh, Eugene J. Gardner, Sebastian S. Gerety, Kaitlin E. Samocha, Juliet Handsaker, Elisabeth Rosser

المساهمون: Gardner, Eugene J [0000-0001-9671-1533], Gerety, Sebastian S [0000-0002-6126-5040], Short, Patrick J [0000-0002-7626-6177], Singh, Tarjinder [0000-0003-0601-6815], Apollo - University of Cambridge Repository

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Nature Communications

مصطلحات موضوعية: Proband, 0301 basic medicine, Mutation rate, BROWSER, Retroelements, DATABASE, Science, Developmental Disabilities, Mutagenesis (molecular biology technique), General Physics and Astronomy, Retrotransposon, VARIANTS, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Germline, 03 medical and health sciences, Negative selection, 0302 clinical medicine, Mutation Rate, Genetic variation, ELEMENTS, Humans, lcsh:Science, Exome, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Science & Technology, Multidisciplinary, Neurodevelopmental disorders, Genetic Variation, General Chemistry, FRAMEWORK, Multidisciplinary Sciences, GENOME, 030104 developmental biology, DE-NOVO MUTATIONS, Mutation, PATTERNS, Science & Technology - Other Topics, lcsh:Q, Structural variation, Mobile genetic elements, Medical genomics, 030217 neurology & neurosurgery

وصف الملف: application/pdf; text/xml; application/zip; Electronic; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a349b7337e22a0a96163582c672d5b23
https://doi.org/10.1038/s41467-019-12520-y

المؤلفون: Sebastian S. Gerety, Frances Flinter, Patrick J. Short, Esther Kinning, Matthew E. Hurles, I. Karen Temple, Diana S. Johnson, Meriel McEntagart, Jeffrey C. Barrett, Bronwyn Kerr, Tabib Dabir, Shelagh Joss, Sofia Douzgou, Giuseppe Gallone, Jill Clayton-Smith, Caroline F. Wright, David R. FitzPatrick, Jeremy F. McRae, Emma McCann, Sally Ann Lynch, Liu He, Wayne Lam, Holly Ironfield, Vivienne McConnell, Virginia Clowes, Elizabeth H. Wynn, Helen V. Firth, Jenny Lord

المصدر: 2019, ' Pathogenicity and selective constraint on variation near splice sites ', Genome Research . https://doi.org/10.1101/gr.238444.118

مصطلحات موضوعية: Proband, Developmental Disabilities, Biology, medicine.disease_cause, 03 medical and health sciences, Negative selection, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Humans, Exome, splice, Gene, Genetics (clinical), Selection (genetic algorithm), Exome sequencing, 030304 developmental biology, Mutation, 0303 health sciences, Research, RNA splicing, RNA Splice Sites, 030217 neurology & neurosurgery

وصف الملف: text; archive; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6f7d11a0a9cfc80ab9a7b3b54e27d0