Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Patrick J. Short"'
Autor:
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
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Retrotransposition events have been linked to some human disorders. Here, Gardner et al. systematically search for mobile genetic elements (ME) in trio whole exome-sequencing datasets and ascertain 9 de novo MEs and further estimate genome-wide germl
Externí odkaz:
https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd
Autor:
Christopher A. Odhams, Giuseppe Gallone, Jeremy F. McRae, Angela Barnicoat, Joanna Kaplanis, Petr Danecek, Matthew D. C. Neville, Jenny Carmichael, Tim H. H. Coorens, Patrick J. O’Brien, Matthew E. Hurles, Raheleh Rahbari, Elena Prigmore, Helen V. Firth, Benjamin Ide, Rashesh Sanghvi, Loukas Moutsianas, Patrick J. Short
SummaryMutation in the germline is the source of all evolutionary genetic variation and a cause of genetic disease. Previous studies have shown parental age to be the primary determinant of the number of new germline mutations seen in an individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6267e5bb292d6d08f3bb4d235f70766b
https://doi.org/10.1101/2021.06.01.446180
https://doi.org/10.1101/2021.06.01.446180
Autor:
Nadia Akawi, James Stephenson, Jeffrey C. Barrett, Rebecca E. McIntyre, Hilary C. Martin, Sebastian S. Gerety, Matthew E. Hurles, Carla P. Jones, Diana S. Johnson, John Dean, Sarju G. Mehta, Elena Prigmore, Meena Balasubramanian, Rachel Horton, Michael Wright, Giuseppe Gallone, Mari Niemi, Miranda Splitt, Peter D. Turnpenny, Mark Sanderson, Dhavendra Kumar, Caroline F. Wright, Wendy D Jones, Pradeep C. Vasudevan, Andrew R. Bassett, Juliet Handsaker, Katie Johnson, Joanna Kaplanis, Alice Hulbert, Michaela Bruntraeger, Elizabeth J. Radford, Jenny Morton, Michael J. Parker, Helen V. Firth, Gabriela Sánchez-Andrade, Patrick J. Short, David R. FitzPatrick, Jeremy F. McRae, Sally Ann Lynch
Publikováno v:
2018, ' Quantifying the contribution of recessive coding variation to developmental disorders ', Science . https://doi.org/10.1126/science.aar6731
Genetic architecture of developmental disorders The genetics of developmental disorders (DDs) is complex. Martin et al. wanted to determine the degree of recessive inheritance of DDs in protein-coding genes. They examined the exomes of more than 6000
Autor:
Matthew E. Hurles, Deciphering Developmental Disorders Study, de Boer E, Jeffrey C. Barrett, Kevin J. Arvai, Stefan H. Lelieveld, Giuseppe Gallone, Patrick J. Short, Helen V. Firth, Hilary C. Martin, Christian Gilissen, Alison Yeung, Joanna Kaplanis, Petr Danecek, Ni Huang, Rebecca I. Torene, Kaitlin E. Samocha, R. Pfundt, Helger G. Yntema, Han G. Brunner, Caroline F. Wright, Ruth Y. Eberhardt, Jane Juusola, Reijnders Mrf., Inigo Martincorena, David R. FitzPatrick, Jeremy F. McRae, Eugene J. Gardner, Vissers Lelm, Zhancheng Zhang, Kyle Retterer, Jenny Lord, Laurens Wiel
SummaryDe novo mutations (DNMs) in protein-coding genes are a well-established cause of developmental disorders (DD). However, known DD-associated genes only account for a minority of the observed excess of such DNMs. To identify novel DD-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6da160ce9cbc430e2807b72510bf8c6f
https://doi.org/10.1101/797787
https://doi.org/10.1101/797787
Autor:
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
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Nature Communications
Nature Communications
Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have been attributed to RT, but the role of RT in severe developme
The epigenomic landscape regulating organogenesis in human embryos linked to developmental disorders
Autor:
José Luis Gómez-Skarmeta, Matthew E. Hurles, Dave T. Gerrard, Nicoletta Bobola, Neil A. Hanley, Patrick J. Short, Ian J. Donaldson, Panos N. Firbas, Matthew J. Birket, Andrew D. Sharrocks, Sandra Jiménez-Gancedo, Sarah J Withey, Karen Piper Hanley, Andrew Berry, Rachel E. Jennings
How the genome activates or silences transcriptional programmes governs organ formation. Little is known in human embryos undermining our ability to benchmark the fidelity of in vitro stem cell differentiation or cell programming, or interpret the pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db67a3092c99b16783204f59f6c66d0c
https://doi.org/10.1101/691766
https://doi.org/10.1101/691766
Autor:
Hyejung Won, Caroline F. Wright, Daniel H. Geschwind, Jeffrey C. Barrett, Helen V. Firth, David R. FitzPatrick, Giuseppe Gallone, Patrick J. Short, Jeremy F. McRae, Matthew E. Hurles, Alejandro Sifrim
Publikováno v:
Nature, vol 555, iss 7698
Short, P J, McRae, J F, Gallone, G, Sifrim, A, Won, H, Geschwind, D H, Wright, C F, Firth, H V, FitzPatrick, D R, Barrett, J C & Hurles, M E 2018, ' De novo mutations in regulatory elements in neurodevelopmental disorders ', Nature, vol. 555, no. 7698, pp. 611-+ . https://doi.org/10.1038/nature25983
Short, P J, McRae, J F, Gallone, G, Sifrim, A, Won, H, Geschwind, D H, Wright, C F, Firth, H V, FitzPatrick, D R, Barrett, J C & Hurles, M E 2018, ' De novo mutations in regulatory elements in neurodevelopmental disorders ', Nature, vol. 555, no. 7698, pp. 611-+ . https://doi.org/10.1038/nature25983
We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869620914ee82d99bb4500760ea1a512
https://escholarship.org/uc/item/0gt5n9q6
https://escholarship.org/uc/item/0gt5n9q6
Autor:
Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R. F. Reijnders, Alison Yeung, Helger G. Yntema, DDD Study, Lisenka E. L. M. Vissers, Jane Juusola, Caroline F. Wright, Han G. Brunner, Helen V. Firth, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer
Approximately 2% of de novo single nucleotide variants (SNVs) appear as part of clustered mutations that create multinucleotide variants (MNVs). MNVs are an important source of genomic variability as they are more likely to alter an encoded protein t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d0d093ac328d549e4eeb5cdb45f4f2
https://doi.org/10.1101/258723
https://doi.org/10.1101/258723
Autor:
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
Publikováno v:
2019, ' Pathogenicity and selective constraint on variation near splice sites ', Genome Research . https://doi.org/10.1101/gr.238444.118
Mutations which perturb normal pre-mRNA splicing are significant contributors to human disease. We used exome sequencing data from 7,833 probands with developmental disorders (DD) and their unaffected parents, as well as >60,000 aggregated exomes fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6f7d11a0a9cfc80ab9a7b3b54e27d0
Autor:
Sally Ann Lynch, Pradeep C. Vasudevan, Wendy D Jones, Hilary C. Martin, John Dean, James Stephenson, Sarju G. Mehta, Elena Prigmore, Katie Johnson, Michael Parker, Patrick J. Short, Jenny Morton, Mari Niemi, Miranda Splitt, Matthew E. Hurles, Rachel Horton, Joanna Kaplanis, Michael Wright, David R. FitzPatrick, Jeremy F. McRae, Elizabeth J. Radford, Diana Johnson, Jeffrey C. Barrett, Alice Hulbert, Caroline F. Wright, Juliet Handsaker, Meena Balasubramanian, Peter D. Turnpenny, Giuseppe Gallone, Dhavendra Kumar, Nadia Akawi, Helen V. Firth
Large exome-sequencing datasets offer an unprecedented opportunity to understand the genetic architecture of rare diseases, informing clinical genetics counseling and optimal study designs for disease gene identification. We analyzed 7,448 exome-sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d08ac808afee38fe3dc6d6647af097d