المؤلفون: Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz

المصدر: PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)

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/ee3c8898ef0a43729adf837c70afaa5a

المؤلفون: Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz

المصدر: PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)

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/92067f3613e64d39b29f8fdaa8154ba8

المؤلفون: Jacqueline A L MacArthur, Timothy D Spector, Sarah J Lindsay, Massimo Mangino, Raj Gill, Kerrin S Small, Matthew E Hurles

المصدر: PLoS Genetics, Vol 10, Iss 3, p e1004195 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3945173?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/01359ab6c46742afa47fe4ac293cb485

المؤلفون: Adam Pavlinek, Dwaipayan Adhya, Alex Tsompanidis, Varun Warrier, Anthony C. Vernon, Madeline Lancaster, Jonathan Mill, Deepak P. Srivastava, Simon Baron-Cohen, Carrie Allison, Rosie Holt, Paula Smith, Tracey Parsons, Joanna Davis, Matthew Hassall, Daniel H. Geschwind, Alexander EP. Heazell, Alice Franklin, Rosie Bamford, Jonathan Davies, Matthew E. Hurles, Hilary C. Martin, Mahmoud Mousa, David H. Rowitch, Kathy K. Niakan, Graham J. Burton, Fateneh Ghafari, Lucia Dutan-Polit, Madeline A. Lancaster, Ilaria Chiaradia, Tal Biron-Shental, Lidia V. Gabis

المصدر: Biological Psychiatry Global Open Science, Vol 4, Iss 5, Pp 100343- (2024)

مصطلحات موضوعية: Autism, Brain organoids, Sex chromosomes, Sex differences, Steroids, X chromosome inactivation, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667174324000569; https://doaj.org/toc/2667-1743

URL الوصول: https://doaj.org/article/696dcf6345f647389e6fcc214263b982

المؤلفون: Manuela Zanda, Suna Onengut-Gumuscu, Neil Walker, Corina Shtir, Daniel Gallo, Chris Wallace, Deborah Smyth, John A Todd, Matthew E Hurles, Vincent Plagnol, Stephen S Rich

المصدر: PLoS Genetics, Vol 10, Iss 5, p e1004367 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4038470?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c792c000e35a46e9aea4074816c55673

المؤلفون: Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/c0f75227db5d4c79801f5124d7f09ecb

المؤلفون: Alexandra M Lopes, Kenneth I Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B Wilfert, Juncheng Dai, Jonathan M Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E Hurles, Sergey Moskovtsev, Carole Ober, Darius A Paduch, Joshua D Schiffman, Peter N Schlegel, Mário Sousa, Douglas T Carrell, Donald F Conrad

المصدر: PLoS Genetics, Vol 9, Iss 3, p e1003349 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3605256?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5383f18dc378453d957ccd91be808516

المؤلفون: Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles

المصدر: PLoS Genetics, Vol 6, Iss 10, p e1001154 (2010)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2954820?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d00b97158b6c465cb885ff31779e1a66

المؤلفون: James A Traherne, Roger Horton, Anne N Roberts, Marcos M Miretti, Matthew E Hurles, C Andrew Stewart, Jennifer L Ashurst, Alexey M Atrazhev, Penny Coggill, Sophie Palmer, Jeff Almeida, Sarah Sims, Laurens G Wilming, Jane Rogers, Pieter J de Jong, Mary Carrington, John F Elliott, Stephen Sawcer, John A Todd, John Trowsdale, Stephan Beck

المصدر: PLoS Genetics, Vol 2, Iss 1, p e9 (2006)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC1331980?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/796cf9a120334d6db80fb76c0b3a0310

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: Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101818- (2024)

مصطلحات موضوعية: Chromosomal microarrays, Copy-number variation, Exome sequencing, Neurodovelopmental disease, Rare disease, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009646; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/8e0772a2bdbe41f584339b04b2c8e9ed

المؤلفون: Petr Danecek, Amy Hough, John Wright, Karen Ho, Nicholas J. Timpson, Sarah J. Lindsay, Davide Bonfanti, Daniel S. Malawsky, Rafaq Azad, Deborah Plowman, Sara Widaa, Gemma Shireby, Emla Fitzsimons, David Bann, Matthew E. Hurles, Hilary C. Martin, Susan M. Ring, Dan Mason, Michael A. Quail, Wei Huang, Vivek Iyer, Mahmoud Koko, Iaroslav Popov, Laurie Fabian, Gennadii Zakharov, Ruth Y. Eberhardt, Emma E. Wade, Qin Qin Huang

المصدر: Wellcome Open Research, Vol 9 (2024)

مصطلحات موضوعية: ALSPAC, MCS, BiB, WES, EGA, eng, Medicine, Science

Relation: https://wellcomeopenresearch.org/articles/9-390/v2; https://doaj.org/toc/2398-502X; https://doaj.org/article/ff3a8201ba064f0bb8c65ad5b40f9a04

الاتاحة: https://doi.org/10.12688/wellcomeopenres.22697.2
https://doaj.org/article/ff3a8201ba064f0bb8c65ad5b40f9a04

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/07a6b0d4c20e438aab57a63b818d068e

المؤلفون: Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Multiplexed assay of variant effect, Genome interpretation, Variant effect, Saturation mutagenesis, Functional genomics, Global alliance, Biology (General), QH301-705.5, Genetics, QH426-470

Relation: https://doi.org/10.1186/s13059-023-02986-x; https://doaj.org/toc/1474-760X; https://doaj.org/article/b9552b874a4a49a68deb254e2408b950

الاتاحة: https://doi.org/10.1186/s13059-023-02986-x
https://doaj.org/article/b9552b874a4a49a68deb254e2408b950

المؤلفون: Yunfeng Huang, Dora Bodnar, Chia-Yen Chen, Gabriela Sanchez-Andrade, Mark Sanderson, Biogen Biobank Team, Jun Shi, Katherine G. Meilleur, Matthew E. Hurles, Sebastian S. Gerety, Ellen A. Tsai, Heiko Runz

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-023-39247-1; https://doaj.org/toc/2041-1723; https://doaj.org/article/de6b6e551a394c89b17455966b598956

الاتاحة: https://doi.org/10.1038/s41467-023-39247-1
https://doaj.org/article/de6b6e551a394c89b17455966b598956

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: 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

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-020-20852-3; https://doaj.org/toc/2041-1723; https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa

الاتاحة: https://doi.org/10.1038/s41467-020-20852-3
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa

المؤلفون: Dave T. Gerrard, Andrew A. Berry, Rachel E. Jennings, Matthew J. Birket, Peyman Zarrineh, Myles G. Garstang, Sarah L. Withey, Patrick Short, Sandra Jiménez-Gancedo, Panos N. Firbas, Ian Donaldson, Andrew D. Sharrocks, Karen Piper Hanley, Matthew E. Hurles, José Luis Gomez-Skarmeta, Nicoletta Bobola, Neil A. Hanley

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-020-17305-2; https://doaj.org/toc/2041-1723; https://doaj.org/article/a296a0ec6d0e434aa7dff480689080a7

الاتاحة: https://doi.org/10.1038/s41467-020-17305-2
https://doaj.org/article/a296a0ec6d0e434aa7dff480689080a7

المؤلفون: Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c96c62bd29688eef22e62c5d003f9c9
https://doi.org/10.1101/2023.04.20.23288860

المؤلفون: Sarah J. Lindsay, Raheleh Rahbari, Joanna Kaplanis, Thomas Keane, Matthew E. Hurles

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-019-12023-w; https://doaj.org/toc/2041-1723; https://doaj.org/article/aa0dc48964e54ac386e118a6c152dd33

الاتاحة: https://doi.org/10.1038/s41467-019-12023-w
https://doaj.org/article/aa0dc48964e54ac386e118a6c152dd33