Zobrazeno 1 - 10
of 47
pro vyhledávání: '"The Deciphering Developmental Disorders Study"'
Autor:
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male
Externí odkaz:
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa
Autor:
Deciphering Developmental Disorders Study, Martin, Hilary C., Jones, Wendy D., McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D., Jones, Carla P., Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F., Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J., Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S., Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G., Morton, Jenny, Parker, Michael J., Splitt, Miranda, Turnpenny, Peter D., Vasudevan, Pradeep C., Wright, Michael, Bassett, Andrew, Gerety, Sebastian S., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.
Publikováno v:
Science, 2018 Dec 01. 362(6419), 1161-1164.
Externí odkaz:
https://www.jstor.org/stable/26569195
Autor:
Rebecca Mawby, Diana Baralle, Jay E. Self, Deciphering Developmental Disorders Study, Gabriella Gazdagh
Publikováno v:
American Journal of Medical Genetics Part A. 188:900-906
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized by a range of phenotypes including optic atrophy and intellectual disability among other features. Pathogenic variants in the NR2F1 (nuclear recepto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86deb34a3654cef922b7272d4d090c9a
https://doi.org/10.1002/ajmg.a.62569
https://doi.org/10.1002/ajmg.a.62569
Autor:
Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Deciphering Developmental Disorders Study, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A L, Koene, Saskia, Robertson, Stephen P, Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M, Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O M, Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S, van Haaften, Gijs
Publikováno v:
American journal of human genetics, Vol. 109, no.4, p. 750-758 (2022)
American journal of human genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 750-758
American Journal of Human Genetics, 109(4), 750-758. CELL PRESS
Deciphering Developmental Disorders Study 2022, ' Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 750-758 . https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 4, pp. 750-758
American journal of human genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 750-758
American Journal of Human Genetics, 109(4), 750-758. CELL PRESS
Deciphering Developmental Disorders Study 2022, ' Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 750-758 . https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 4, pp. 750-758
Contains fulltext : 252023.pdf (Publisher’s version ) (Open Access) Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular proc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26baf96963f72d8c775857dfc818214
https://doi.org/10.1016/j.ajhg.2022.02.003
https://doi.org/10.1016/j.ajhg.2022.02.003
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Autor:
Saskia B. Wortmann, Simon C. Lovell, Antoine H. C. van Kampen, Stefan Kölker, Martin Lowe, Sacha Ferdinandusse, Peter E. Clayton, Angela C. M. Luyf, Ronald J.A. Wanders, Richard C. Rogers, Siddharth Banka, Sara Cuvertino, Kay Metcalfe, Marc Engelen, Martin A. T. Vervaart, Hyung L. Elfrink, Rebecca Yarwood, Mia L. Pras-Raves, John H McDermott, Michel van Weeghel, Deciphering Developmental Disorders Study, Jos P.N. Ruiter, Henk van Lenthe, Marielle Alders, Frédéric M. Vaz
Publikováno v:
Brain
Brain 142, 3382-3397 (2019)
Mcdermott, J, Metcalfe, K, Banka, S, Cuvertino, S, Clayton, P, Yarwood, R, Lowe, M & Lovell, S 2019, ' Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia ', Brain : a journal of neurology, vol. 142, no. 11, pp. 3382-3397 . https://doi.org/10.1093/brain/awz291
Brain, 142(11), 3382-3397. Oxford University Press
Brain 142, 3382-3397 (2019)
Mcdermott, J, Metcalfe, K, Banka, S, Cuvertino, S, Clayton, P, Yarwood, R, Lowe, M & Lovell, S 2019, ' Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia ', Brain : a journal of neurology, vol. 142, no. 11, pp. 3382-3397 . https://doi.org/10.1093/brain/awz291
Brain, 142(11), 3382-3397. Oxford University Press
Vaz, McDermott et al. identify variants in PCYT2, which encodes a key gene in phospholipid biosynthesis, in five individuals with a new complex hereditary spastic paraplegia. Functional studies in fibroblasts and a zebrafish model confirm the pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a72b021479bf3fac2b35039a421047e5
http://europepmc.org/articles/PMC6821184
http://europepmc.org/articles/PMC6821184
Autor:
Vera B. Kaiser, Deciphering Developmental Disorders Study, Yatendra Kumar, Lana Talmane, Marie MacLennan, Colin A. Semple, David R. FitzPatrick, Martin S. Taylor, Fiona Semple
Mutation in the germline is the ultimate source of genetic variation, but little is known about the influence of germline chromatin structure on mutational processes. Using ATAC-seq, we profile the open chromatin landscape of human spermatogonia, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f408404b95c84336b84bbcb7e26c126
https://doi.org/10.1101/2021.06.10.447556
https://doi.org/10.1101/2021.06.10.447556
Autor:
Matthew D. C. Neville, Caroline F. Wright, Hilary C. Martin, Kaitlin E. Samocha, Alejandro Sifrim, Nadia Akawi, David R. FitzPatrick, Giuseppe Gallone, Mari Niemi, Jeremy F. McRae, Helen V. Firth, Deciphering Developmental Disorders Study, Eugene J. Gardner, Ana Lisa Taylor Tavares, Joanna Kaplanis, Ruth Y. Eberhardt, Matthew E. Hurles
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Deciphering Developmental Disorders Study 2021, ' The contribution of X-linked coding variation to severe developmental disorders ', Nature Communications, vol. 12, no. 1, 627 . https://doi.org/10.1038/s41467-020-20852-3
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Deciphering Developmental Disorders Study 2021, ' The contribution of X-linked coding variation to severe developmental disorders ', Nature Communications, vol. 12, no. 1, 627 . https://doi.org/10.1038/s41467-020-20852-3
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f7ce6aa3e38d977912db1eeda30114
https://www.repository.cam.ac.uk/handle/1810/318196
https://www.repository.cam.ac.uk/handle/1810/318196
Autor:
Kaplanis, J., Samocha, K.E., Wiel, L., Zhang, Z., Arvai, K.J., Eberhardt, R.Y., Gallone, G., Lelieveld, S.H., Martin, H.C., McRae, J.F., Short, P.J., Torene, R.I., de Boer, E., Danecek, P., Gardner, E.J., Huang, N., Lord, J., Martincorena, I., Pfundt, R., Reijnders, M.R.F., Yeung, A., Yntema, H.G., Deciphering Developmental Disorders Study, Vissers, L.E.L.M., Juusola, J., Wright, C.F., Brunner, H.G., Firth, H.V., FitzPatrick, D.R., Barrett, J.C., Hurles, M.E., Gilissen, C., Retterer, K.
De novo mutations in protein-coding genes are a well-established cause of developmental disorders. However, genes known to be associated with developmental disorders account for only a minority of the observed excess of such de novo mutations. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::a9f25cd72344462e862eecea7e22559a
https://eprints.whiterose.ac.uk/167366/8/797787v3.full.pdf
https://eprints.whiterose.ac.uk/167366/8/797787v3.full.pdf
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca01032f9bd18dc8ebef97e29b9193b
Autor:
Katrina Prescott, Anna Platt, Sumit Punj, Meena Balasubramanian, Deciphering Developmental Disorders Study, Schaida Schirwani, Sahar Mansour, Natalie Hauser, Natalie Canham
Publikováno v:
European journal of medical genetics. 63(6)
De novo pathogenic variants in the additional sex combs-like 3 (ASXL3) gene cause a rare multi-systemic neurodevelopmental disorder. There is growing evidence that germline and somatic mosaicism are more common and play a greater role in genetic diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9415d3ce24ef89a0c7b1354e5faee61
https://pubmed.ncbi.nlm.nih.gov/32240826
https://pubmed.ncbi.nlm.nih.gov/32240826