المؤلفون: Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla

المصدر: Molecular Systems Biology, Vol 20, Iss 7, Pp 825-844 (2024)

مصطلحات موضوعية: Deep Mutational Scanning, Transcription Factor, Eye Development, Biology (General), QH301-705.5, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1744-4292

URL الوصول: https://doaj.org/article/46f6b432ee554b1bbff01429fb10cdbb

المؤلفون: Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick

المصدر: PLoS ONE, Vol 17, Iss 11, p e0268149 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0268149&type=printable; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/9d06bad8b8e446029dee31c9786b024b

المؤلفون: Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick

المصدر: PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db

المؤلفون: Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert W Taylor, Andrew J Finch, David R FitzPatrick

المصدر: PLoS Genetics, Vol 15, Iss 3, p e1007605 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/192d26f5eb27480d89b58d0f330125b8

المؤلفون: Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick

المصدر: PLoS Genetics, Vol 14, Iss 12, p e1007866 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5eacb5aa2aef4ceabdeb674476983ece

المؤلفون: Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick

المصدر: PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4849793?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736f

المؤلفون: Quentin Ferry, Julia Steinberg, Caleb Webber, David R FitzPatrick, Chris P Ponting, Andrew Zisserman, Christoffer Nellåker

المصدر: eLife, Vol 3 (2014)

مصطلحات موضوعية: phenotyping, computer vision, clinical genetics, computational biology, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/02020; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/aee2ed28d47f4125934729daac964ed1

المؤلفون: Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy

المصدر: PLoS Genetics, Vol 10, Iss 4, p e1004242 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3998887?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d3dcf43d51eb47b5b7cbeb70d07b6dc0

المؤلفون: Joe Rainger, Margaret Keighren, Douglas R Keene, Noe L Charbonneau, Jacqueline K Rainger, Malcolm Fisher, Sebastien Mella, Jeffrey T-J Huang, Lorraine Rose, Rob van't Hof, Lynne Y Sakai, Ian J Jackson, David R Fitzpatrick

المصدر: PLoS Genetics, Vol 9, Iss 12, p e1003998 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3861116?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d52ba708d0874089b9a47b709d857fb5

المؤلفون: Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick

المصدر: PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3131273?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/14f960f7e2974b98bdeb21467c0aa11c

المؤلفون: Louise Harewood, Monica Liu, Jean Keeling, Alan Howatson, Margo Whiteford, Peter Branney, Margaret Evans, Judy Fantes, David R Fitzpatrick

المصدر: PLoS ONE, Vol 5, Iss 8, p e12375 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2928268?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/71ac7198def24b3bb55ca7168275d3a7

المؤلفون: Alexandre R Vieira, Joseph R Avila, Sandra Daack-Hirsch, Ecaterina Dragan, Têmis M Félix, Fedik Rahimov, Jill Harrington, Rebecca R Schultz, Yoriko Watanabe, Marla Johnson, Jennifer Fang, Sarah E O'Brien, Iêda M Orioli, Eduardo E Castilla, David R Fitzpatrick, Rulang Jiang, Mary L Marazita, Jeffrey C Murray

المصدر: PLoS Genetics, Vol 1, Iss 6, p e64 (2005)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC1298935?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/58a2334e6b2f4ca5a3ac6d4a04816e34

المؤلفون: Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)

مصطلحات موضوعية: Cornelia de Lange syndrome, SMC3, loss-of-function, cohesin, CdLS3, LoF, Genetics, QH426-470

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000125; https://doaj.org/toc/2666-2477; https://doaj.org/article/be0b7360900245738bb5fa3eedf88913

الاتاحة: https://doi.org/10.1016/j.xhgg.2024.100273
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913

المؤلفون: Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C. Sowden, David R. FitzPatrick, Rachel Queen, Majlinda Lako

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-024-47933-x; https://doaj.org/toc/2041-1723; https://doaj.org/article/416ae52d4d2147ef83f5da46162b46af

الاتاحة: https://doi.org/10.1038/s41467-024-47933-x
https://doaj.org/article/416ae52d4d2147ef83f5da46162b46af

المؤلفون: Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100836- (2023)

مصطلحات موضوعية: Anueploidy, Chromosomal alterations, Developmental disorders, Mosaic, Uniparental disomy, Genetics, QH426-470, Medicine

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008452; https://doaj.org/toc/2949-7744; https://doaj.org/article/07a6b0d4c20e438aab57a63b818d068e

الاتاحة: https://doi.org/10.1016/j.gimo.2023.100836
https://doaj.org/article/07a6b0d4c20e438aab57a63b818d068e

المؤلفون: Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple

المصدر: HGG Advances, Vol 4, Iss 1, Pp 100162- (2023)

مصطلحات موضوعية: human phenotype ontology, phenotype, genotype, developmental disease, growth, developmental milestones, Genetics, QH426-470

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000793; https://doaj.org/toc/2666-2477; https://doaj.org/article/02b9675f33534c6bae4aba0033a026ad

الاتاحة: https://doi.org/10.1016/j.xhgg.2022.100162
https://doaj.org/article/02b9675f33534c6bae4aba0033a026ad

المؤلفون: Brianda A. Hernandez-Moran, Andrew S. Papanastasiou, David Parry, Alison Meynert, Philippe Gautier, Graeme Grimes, Ian R. Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J. Jackson, David J. Adams, David R. FitzPatrick, Joe Rainger

المصدر: Genes; Volume 13; Issue 10; Pages: 1797

مصطلحات موضوعية: anophthalmia, X-chromosome, X-ray induced allele, linkage analysis, Zic3, genome wide analysis, eye development

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13101797

الاتاحة: https://doi.org/10.3390/genes13101797

المؤلفون: Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Variant interpretation, Non-coding variation, Gene regulation, Medicine, Genetics, QH426-470

Relation: https://doi.org/10.1186/s13073-022-01073-3; https://doaj.org/toc/1756-994X; https://doaj.org/article/592317068741464ab4f2701a8ccc78e4

الاتاحة: https://doi.org/10.1186/s13073-022-01073-3
https://doaj.org/article/592317068741464ab4f2701a8ccc78e4

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/journal_contribution/The_file_have_details_for_S1-S44_Figs_S1-S3_Tables_and_S1-S6_Notes_/15166575

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.s002

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/journal_contribution/S1_Raw_images_-/15166578

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.s003