Hasil Pencarian - David R. FitzPatrick

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  1. 1
    Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

    Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study oleh Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth

    Diterbitkan 2023-01-01
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  2. 2
    Diagnostically relevant facial gestalt information from ordinary photos

    Diagnostically relevant facial gestalt information from ordinary photos oleh Quentin Ferry, Julia Steinberg, Caleb Webber, David R FitzPatrick, Chris P Ponting, Andrew Zisserman, Christoffer Nellåker

    Diterbitkan 2014-06-01
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  3. 3
    IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

    IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders oleh Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple

    Diterbitkan 2023-01-01
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  4. 4
    Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved]

    Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved] oleh Caroline F. Wright, Anna Middleton, Jeffrey C. Barrett, Helen V. Firth, David R. FitzPatrick, Matthew E. Hurles, Michael Parker

    Diterbitkan 2017-02-01
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  5. 5
    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation oleh Mark T. Handley, Sarah M. Carpanini, Girish R. Mali, Duska J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David R. FitzPatrick

    Diterbitkan 2015-01-01
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  6. 6
    Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

    Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect oleh Gabrielle Olley, Madapura M. Pradeepa, Graeme R. Grimes, Sandra Piquet, Sophie E. Polo, David R. FitzPatrick, Wendy A. Bickmore, Charlene Boumendil

    Diterbitkan 2021-05-01
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  7. 7
    Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants

    Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants oleh Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla

    Diterbitkan 2024-06-01
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  8. 8
    Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina

    Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina oleh 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

    Diterbitkan 2024-04-01
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  9. 9
    Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

    Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP oleh Anja Thormann, Mihail Halachev, William McLaren, David J. Moore, Victoria Svinti, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Sarah E. Hunt, Malcolm G. Dunlop, Matthew E. Hurles, Caroline F. Wright, Helen V. Firth, Fiona Cunningham, David R. FitzPatrick

    Diterbitkan 2019-05-01
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  10. 10
    Contribution of retrotransposition to developmental disorders

    Contribution of retrotransposition to developmental disorders oleh 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

    Diterbitkan 2019-10-01
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  11. 11
    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. oleh 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

    Diterbitkan 2019-03-01
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  12. 12
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders oleh 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

    Diterbitkan 2021-01-01
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  13. 13
    Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

    Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. oleh 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

    Diterbitkan 2021-01-01
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  14. 14
    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. oleh 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

    Diterbitkan 2022-01-01
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  15. 15
    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia oleh 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

    Diterbitkan 2022-01-01
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  16. 16
    Recommendations for clinical interpretation of variants found in non-coding regions of the genome

    Recommendations for clinical interpretation of variants found in non-coding regions of the genome oleh 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

    Diterbitkan 2022-07-01
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  17. 17
    Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

    Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. oleh 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

    Diterbitkan 2018-12-01
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  18. 18
    Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

    Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. oleh 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

    Diterbitkan 2016-01-01
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  19. 19
    Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

    Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features oleh 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

    Diterbitkan 2024-04-01
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  20. 20
    Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

    Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative oleh Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium

    Diterbitkan 2019-07-01
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