检索结果 - Jenny Lord

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  1. 1
    The epigenetic landscape of Alzheimer's disease

    The epigenetic landscape of Alzheimer's disease 由 Jenny Lord, Carlos Cruchaga

    出版 2014
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  2. 2
    Splicing in the Diagnosis of Rare Disease: Advances and Challenges

    Splicing in the Diagnosis of Rare Disease: Advances and Challenges 由 Jenny Lord, Diana Baralle

    出版 2021
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  3. 3
    CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites

    CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites 由 Yaron Leander Strauch, Jenny Lord, Mahesan Niranjan, Diana Baralle

    出版 2022
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  4. 4
    Fetal central nervous system anomalies: When should we offer exome sequencing?

    Fetal central nervous system anomalies: When should we offer exome sequencing? 由 Caitlin Baptiste, Rhiannon Mellis, Vimla S. Aggarwal, Jenny Lord, Ruth Y. Eberhardt, Mark D. Kilby, Eamonn R. Maher, Ronald J. Wapner, Jessica L. Giordano, Lyn S. Chitty

    出版 2022
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  5. 5
    Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

    Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach 由 Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle

    出版 2024
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  6. 6
    <scp>COngenital</scp> heart disease and the Diagnostic yield with Exome sequencing (<scp>CODE</scp>) study: prospective cohort study and systematic review

    <scp>COngenital</scp> heart disease and the Diagnostic yield with Exome sequencing (<scp>CODE</scp>) study: prospective cohort study and systematic review 由 Fionnuala Mone, Ruth Y. Eberhardt, Katie Morris, Matthew E. Hurles, DJ McMullan, Eamonn R. Maher, Jenny Lord, Lyn S. Chitty, Jessica L. Giordano, Ronald J. Wapner, Mark D. Kilby

    出版 2020
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  7. 7
    A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin

    A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin 由 Yuetiva Deming, Jian Xia, Yefei Cai, Jenny Lord, Peter Holmans, Sarah Bertelsen, David M. Holtzman, John C. Morris, Kelly R. Bales, Eve H. Pickering, John Kauwe, Alison Goate, Carlos Cruchaga

    出版 2015
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  8. 8
    Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

    Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies 由 E Quinlan-Jones, Jenny Lord, Denise Williams, S. Hamilton, Tamás Marton, Ruth Y. Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic McMullan, Eamonn R. Maher, Matthew E. Hurles, Mark D. Kilby

    出版 2018
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  9. 9
    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance 由 Htoo A. Wai, Jenny Lord, Matthew Lyon, Adam C. Gunning, Hugh Kelly, Penelope Cibin, Eleanor G. Seaby, Kerry Spiers-Fitzgerald, Jed J. Lye, Sian Ellard, N. Simon Thomas, David J. Bunyan, Andrew G. L. Douglas, Diana Baralle

    出版 2020
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  10. 10
    Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (<scp>FIND</scp>) study: prospective cohort study and meta‐analysis

    Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (<scp>FIND</scp>) study: prospective cohort study and meta‐analysis... 由 Fionnuala Mone, Ruth Y. Eberhardt, Matthew E. Hurles, Dominic McMullan, Eamonn R. Maher, Jenny Lord, Lyn S. Chitty, Esther Dempsey, Tessa Homfray, Jessica L. Giordano, Ronald J. Wapner, Luming Sun, Teresa N. Sparks, Mary E. Norton, Mark D. Kilby

    出版 2021
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  11. 11
    Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

    Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders 由 Caroline F. Wright, Jeremy F. McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas Fitzgerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord, Alejandro Sifrim, Rosemary E. Kelsell, Michael Parker, Jeffrey C. Barrett, Matthew E. Hurles, David Fitzpatrick, Helen V. Firth

    出版 2018
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  12. 12
    Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease

    Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease 由 Celeste Sassi, Rita Guerreiro, J. Raphael Gibbs, Joshua Shulman, Michelle K. Lupton, Claire Troakes, Safa Al‐Sarraj, Michael Niblock, Jean‐Marc Gallo, Jihad Adnan, Richard Killick, Kristelle Brown, Christopher Medway, Jenny Lord, James Turton, José Brás, Kevin Morgan, John Powell, Andrew Singleton, John Hardy

    出版 2014
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  13. 13
    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project 由 Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord

    出版 2022
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  14. 14
    Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants

    Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants 由 Jan Rehker, Johanna Rodhe, Ryan Nesbitt, Evan A. Boyle, Beth Martin, Jenny Lord, Ilker Karaca, Adam C. Naj, Frank Jessen, Seppo Helisalmi, Hilkka Soininen, Mikko Hiltunen, Alfredo Ramı́rez, Martin Scherer, Lindsay A. Farrer, Jonathan L. Haines, Margaret A. Pericak‐Vance, Wendy H. Raskind, Carlos Cruchaga, Gerard D. Schellenberg, Bertrand Joseph, Zoran Brkanac

    出版 2017
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  15. 15
    Predicting the impact of rare variants on RNA splicing in CAGI6

    Predicting the impact of rare variants on RNA splicing in CAGI6 由 Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G. L. Douglas, David J. Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Daniš, Panagiotis Katsonis, Amanda M. Williams, Olivier Lichtarge, Yu‐Chen Chang, Richard D. Bagnall, Stephen M. Mount, Brynja Matthiasardottir, Chiao‐Feng Lin, Thomas van Overeem Hansen, Raphaël Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, Diana Baralle

    出版 2024
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  16. 16
    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease 由 Alexandra C Martin-Geary, Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Shan Dong, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N. D’Souza, Maria Fernandes, Sarah K. Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G E L DeGoede, Emily E. Anderson, Toby Candler, Helen V. Firth, Christopher B. Burge, Stephan Sanders, Jamie M. Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin

    出版 2025
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  17. 17
    Pathogenicity and selective constraint on variation near splice sites

    Pathogenicity and selective constraint on variation near splice sites 由 Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton‐Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne McConnell, Wayne Lam, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    出版 2018
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  18. 18
    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 由 Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, C. Ryan Campbell, Kate Downes, Sian Ellard, Celia Duff‐Farrier, David Fitzpatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell‐Luria, Simon 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

    出版 2022
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  19. 19
    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders 由 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 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 Fitzpatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer

    出版 2019
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  20. 20
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families 由 Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    出版 2015
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