Items where Division is "Current Faculties > Faculty of Medicine > Human Development and Health > Human Genetics and Genomic Medicine
Human Development and Health > Human Genetics and Genomic Medicine" and Year is 2022
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Number of items: 32.
A
IL-33 induces an antiviral signature in mast cells but enhances their permissiveness for human rhinovirus infection - Charlene Akua Dufie Akoto, Anna Willis, Chiara Francesca Banas, Joseph A. Bell, Dean Bryant, Cornelia Blume, Donna E. Davies and Emily J. Swindle
Type: Article
| 2022
Deleterious genetic variation across the NOD-signaling pathway is associated with reduced NFKB-signaling transcription and upregulation of alternative inflammatory transcripts in paediatric inflammatory bowel disease - James Ashton, Konstantinos Boukas, Imogen, Sian Stafford, Guo Cheng, Rachel Haggarty, Tracy Coelho, Akshay Batra, Nadeem A. Afzal, Anthony Williams, Marta Polak, R. Mark Beattie and Sarah Ennis
Type: Article
| 2022
Prediction of Crohn’s disease stricturing phenotype using a NOD2-derived genomic biomarker - James Ashton, Guo Cheng, Imogen S. Stafford, M. Kellermann, Eleanor Seaby, J.R. Fraser Cummings, Tracy Coelho, Akshay Batra, Nadeem A. Afzal, R. Mark Beattie and Sarah Ennis
Type: Article
| 2022
NOD2 in Crohn’s disease – unfinished business - James Ashton, Eleanor Seaby, Robert M Beattie and Sarah Ennis
Type: Article
| 2022
Using machine learning to impact on long-term clinical care: principles, challenges, and practicalities - James J. Ashton, Aneurin Young, Mark J. Johnson and R. Mark Beattie
Type: Review
| 2022
Measurement of exhaled volatile organic compounds as a biomarker for personalised medicine: assessment of short-term repeatability in severe asthma - Adnan Azim, Faisal I. Rezwan, Clair Barber, Matthew Harvey, Ramesh J. Kurukulaaratchy, John W. Holloway and Peter H. Howarth
Type: Article
| 2022
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Fetal central nervous system anomalies: When should we offer exome sequencing? - Caitlin Baptiste, Rhiannon Mellis, Vimla S. Aggarwal, Jenny Lord, Ruth Y. Eberhardt, Mark D. Kilby, Eamonn R. Maher, Ronald Wapner, Jessica Giordano and Lyn Chitty
Type: Article
| 2022
| Item not available on this server.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach - Sunayna Best, Jing Yu and Jenny Lord
Type: Article
| 2022
Type: Dataset
| 2022
| figshare
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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project - Nicola Whiffin, Diana Baralle and Jenny Lord
Type: Article
| 2022
A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder - Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A.M. Innes, Connie Stumpel, Katrin Ounap, Karit Reinson, Eleanor G. Seaby, Shane Mckee, Barbara Burton, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine Zackai, Sarah Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Birgitta Bernhard, Simon E. Fisher, Han G. Brunner and Tjitske Kleefstra
Type: Meeting abstract
| 2022
| Item not available on this server.
Exploring the causal effect of maternal pregnancy adiposity on offspring adiposity: Mendelian randomisation using polygenic risk scores - Tom A. Bond, Rebecca C. Richmond, Ville Karhunen, Gabriel Cuellar-Partida, Maria Carolina Borges, Verena Zuber, Alexessander Couto Alves, Dan Mason, Tiffany C. Yang, Marc J. Gunter, Abbas Dehghan, Ioanna Tzoulaki, Sylvain Sebert, David M. Evans, Alex M. Lewin, Paul F. O’Reilly, Deborah A. Lawlor and Marjo-Ritter Järvelin
Type: Article
| 2022
C
Nonacog Alfa for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Patients with Moderately Severe or Severe Hemophilia B in India - Nirmalkumar Choraria, Savita Rangarajan, M. Joseph John, Shashikant Apte, Pritam Gupta, Seema Pai, Rohit Chand, Shyam Parvatini, G.S.H. Ramakanth, Jeremy Rupon, Amit Chhabra, Hitesh Bhaskarrao Muley and Damien Simoneau
Type: Article
| 2022
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Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease - Ahmed A Z. Dawoud, Rodney D. Gilbert, William J. Tapper and Nicholas C. P. Cross
Type: Article
| 2022
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome - 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, Harrison Steven M and Nicola Whiffin
Type: Article
| 2022
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Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype - Christine Gast, Rodney D. Gilbert, Kristin Veighey, Gary Leggatt, Tahmina Rahman and Sarah Ennis
Type: Article
| 2022
I
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: an emerging neurodevelopmental syndrome - Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen and Diana Baralle
Type: Article
| 2022
K
Paternal pre-pubertal tobacco smoking and offspring DNA methylation - N Kitaba, T. Knudsen, A. Johannessen, F. Rezwan, A. Malinovschi, A. Oudin, B. Benediktsdottir, D. Martino, F Callejas. González, L. Gómez, M. Holm, O. Jõgi, S. Shyamali Dharmage, S. Skulstad, F. Gómez-Real, V. Schlünssen, C. Svanes and J. Holloway
Type: Meeting abstract
| 2022
| Item not available on this server.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability - Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M Robert, Sunday S Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J Kundishora, Le T Hao, Hong Li, Roger E Stevenson, Raymond J Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M Wentzensen, Eileen E Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G Seaby, Kristin G Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M Pereira, Sara M Berger, Sarah S Milla, Ankita B Jaykumar, Melanie H Cobb, Shreyas Panchagnula, Phan Q Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill A Rosenfeld, Michael J Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E Antonarakis, Charles E Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T Kahle and Bertrand Isidor
Type: Article
| 2022
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Temporal whole-transcriptomic analysis of characterized in vitro and ex vivo primary nasal epithelia - Jelmer Legebeke, Katie Leanne Horton, Claire Jackson, Janice Coles, Amanda Harris, Htoo Wai, John Holloway, Gabrielle Wheway, Diana Baralle and Jane Lucas
Type: Article
| 2022
Evaluating the immune response in treatment-naïve hospitalised patients with influenza and COVID-19 - Jelmer Legebeke, Jenny Lord, Rebekah Penrice-Randal, Andres F Vallejo, Stephen Poole, Nathan Brendish, Xiaofeng Dong, Catherine Hartley, John Holloway, Jane Lucas, Anthony Williams, Gabrielle Wheway, Fabio Strazzeri, Aaron Gardner, James P R Schofield, Paul Skipp, Julian A. Hiscox, Marta Polak, Tristan Clark and Diana Baralle
Type: Article
| 2022
Re-classification of clinically-detected sequence variants: framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK) - Lucy Loong, Alice Garrett, Subin Choi, Miranda Durkie, Alison Callaway, James Drummond, Diana Eccles, Anneke Lucassen and Clare Turnbull
Type: Article
| 2022
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders - Deborah Mackay, Jet Bliek, Masayo Kagami and I. Karen Temple
Type: Article
| 2022
Evidence of a genetically driven metabolomic signature in actively inflamed Crohn’s disease - Enrico Mossotto, Joanna Boberska, James J. Ashton, Imogen S. Stafford, Guo Cheng, Jonathan Baker, Florina Borca, Hang T. T. Phan, Tracy F. Coelho, R. Mark Beattie, Sandrine P. Claus and Sarah Ennis
Type: Article
| 2022
S
Response to Ramos et al - Eleanor Seaby, Diana Baralle, Heidi L. Rehm, Anne O'Donnell-Luria and Sarah Ennis
Type: Letter
| 2022
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes - Eleanor Seaby, Damian Smedley, Ana Lisa Taylor Tavares, Helen Brittain, Richard H van Jaarsveld, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria and Sarah Ennis
Type: Article
| 2022
Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project - Diana Baralle, Heidi L. Rehm, Anne O'Donnell-Luria and Sarah Ennis
Type: Article
| 2022
| Item not available on this server.
Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project - Eleanor G. Seaby, N. Simon Thomas, Amy Webb, Helen Brittain, Ana Lisa Taylor Tavares, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria and Sarah Ennis
Type: UNSPECIFIED
| 2022
Predicting pancreatic cancer in the UK Biobank cohort using polygenic risk scores and diabetes mellitus - Shreya Sharma, William J. Tapper, Andrew Collins and Zaed Z.R. Hamady
Type: Article
| 2022
Type: Article
| 2022
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Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis - Htoo Wai, Matthew Constable, Cosima Drewes, Ian C Davies, Eliska Svobodova, Esther Dempsey, Anand Saggar, Sahar Mansour, Sofia Douzgou, Kate Barr, Stephanie Scott, David Hunt, Andrew Douglas and Diana Baralle
Type: Article
| 2022
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Changes in the growth of very preterm infants in England 2006–2018 - Aneurin Young, Tim J. Cole, Guo Cheng, Sarah Ennis, Robert M Beattie and Mark Johnson
Type: Article
| 2022