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 2024
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Number of items: 32.
Article
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction - Ahmed S.N. Alhendi, Gabriella Gazdagh, Derek Lim, Dominic McMullan, Michael Wright, I. Karen Temple, Justin H. Davies and Deborah J.G. Mackay
Type: Article
| 2024
Therapeutic options for children and young people with moderate to severe ulcerative colitis - James Ashton, Kwang Yang Lee, Anthi Thangarajah, Astor Rodrigues and Jochen Kammermeier
Type: Article
| 2024
Copper-binding proteins and exonic splicing enhancers and silencers - Dara Bakhtiar and Igor Vorechovsky
Type: Article
| 2024
Markers of adipose tissue fibrogenesis associate with clinically significant liver fibrosis and are unchanged by synbiotic treatment in patients with NAFLD - Josh Bilson, Carolina J. Oquendo, James Read, Eleonora Scorletti, Paul R. Afolabi, Jenny Lord, Laure B. Bindels, Giovanni Targher, Sumeet Mahajan, Diana Baralle, Philip C. Calder, Christopher D. Byrne and Jaswinder K. Sethi
Type: Article
| 2024
HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype - Liam S. Carroll, Sarah Ennis, Nicola Foulds and Simon R. Hammans
Type: Article
| 2024
| Item availability restricted.
Novel COVID-19 biomarkers identified through multi-omics data analysis: N-acetyl-4-O-acetylneuraminic acid, N-acetyl-L-alanine, N-acetyltriptophan, palmitoylcarnitine, and glycerol 1-myristate - Alexandre de Fátima Cobre, Alexessander Couto Alves, Ana Raquel Manuel Gotine, Karime Zeraik Abdalla Domingues, Raul Edison Luna Lazo, Luana Mota Ferreira, Fernanda Stumpf Tonin and Roberto Pontarolo
Type: Article
| 2024
| Item availability restricted.
Pharmacogenomic assessment of genes implicated in thiopurine metabolism and toxicity in a UK cohort of paediatric patients with inflammatory bowel disease - Tracy Coelho, Guo Cheng and Sophie Lewis
Type: Article
| 2024
| Item availability restricted.
Behavioural, psychiatric, and cognitive phenotypes associated with numbers of repeats of the FRAXE allele on the FMR2 gene - Jean Golding, Marcus Pembrey, Rosie Clark, Yasmin Iles-Caven, Steven Gregory, Susan Ring, Sarah Ennis and Matthew Suderman
Type: Article
| 2024
Lung function trajectories from school age to adulthood and their relationship with markers of cardiovascular disease risk - Raquel Granell, Sadia Haider, Matea Deliu, Anhar Ullah, Osama Mahmoud, Sara Fontanella, Lesley Lowe, Angela Simpson, James William Dodd, Seyed Hasan Arshad, Clare S. Murray, Graham Roberts, Alun Hughes, Chloe Park, John W. Holloway and Adnan Custovic
Type: Article
| 2024
Exploring the genetics of airflow limitation in lung function across the lifespan – a polygenic risk score study - Natalia Hernandez-Pacheco, Anna Kilanowski and Ashish Kumar
Type: Article
| 2024
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach - Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I. Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G.L. Douglas and Diana Baralle
Type: Article
| 2024
Cardiomyopathies in 100,000 Genomes Project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery - Katherine S. Josephs, Eleanor G. Seaby, Philippa May, Pantazis Theotokis, Jing Yu, Avgi Andreou, Hannah Sinclair, Deborah Morris-Rosendahl, Ellen R.A. Thomas, Sarah Ennis, Angharad M. Roberts and James S. Ware
Type: Article
| 2024
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant - Nicolai Kohring Tvergaard, Tinatin Tkemaladze, Tommy Stödberg, Malin Kvarnung, Katrina Tatton-Brown, Diana Baralle, Zeynep Tumer and Allan Bayat
Type: Article
| 2024
A Pregnancy and Childhood Epigenetics Consortium (PACE) meta-analysis highlights potential relationships between birth order and neonatal blood DNA methylation - Shaobo Li, Natalia Spitz and Akram Ghantous
Type: Article
| 2024
Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome - Oluwakemi Lokulo-Sodipe, Hazel M. Inskip, Christopher D. Byrne, Jenny Child, Emma L. Wakeling, Deborah J.G. Mackay, I. Karen Temple and Justin H. Davies
Type: Article
| 2024
Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants - Jenny Lord, Carolina Jaramillo Oquendo, Htoo Wai, John Holloway, Alexandra C. Martin-Geary, Alexander J.M. Blakes, Elena Arciero, Silvia Domcke, Anne-Marie Childs, Karen Low, Julia Rankin, Diana Baralle, Hilary C Martin and Nicola Whiffin
Type: Article
| 2024
Predicting the impact of rare variants on RNA splicing in CAGI6 - Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G.L. Douglas, David J. Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Oliver Lichtarge, Yuchen Chang, Richard D. Bagnall, Stephen M. Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac and Diana Baralle
Type: Article
| 2024
Diagnosis and evaluation of prognosis of myelofibrosis: a British Society for Haematology guideline - Donal P. Mclornan, Anna L. Godfrey, Anna Green, Rebecca Frewin, Siamak Arami, Jessica Brady, Nauman M. Butt, Catherine Cargo, Joanne Ewing, Sebastian Francis, Mamta Garg, Claire Harrison, Andrew Innes, Alesia Khan, Steve Knapper, Jonathan Lambert, Adam Mead, Andrew Mcgregor, Pratap Neelakantan, Bethan Psaila, Tim C.P. Somervaille, Claire Woodley, Jyoti Nangalia, Nicholas C.P. Cross and Mary Frances Mcmullin
Type: Article
| 2024
The management of myelofibrosis: a British Society for Haematology guideline - Donal P. Mclornan, Bethan Psaila, Joanne Ewing, Andrew Innes, Siamak Arami, Jessica Brady, Nauman M. Butt, Catherine Cargo, Nicholas C.P. Cross, Sebastian Francis, Rebecca Frewin, Mamta Garg, Anna L. Godfrey, Anna Green, Alesia Khan, Steve Knapper, Jonathan Lambert, Andrew McGregor, Mary Francis McMullin, Jyoti Nangalia, Pratap Neelakantan, Claire Woodley, Adam Mead, Tim C.P. Somervaille and Claire N. Harrison
Type: Article
| 2024
| Item availability restricted.
Poor applicability of currently available prognostic scoring systems for prediction of outcome in KIT D816V-negative advanced systemic mastocytosis - Nicole Naumann, Martina Rudelius, Johannes Lübke, Deborah Christen, Jakob Bresser, Karl Sotlar, Georgia Metzgeroth, Alice Fabarius, Wolf-Karsten Hofmann, Jens Panse, Hans-Peter Horny, Nicholas C.P. Cross, Andreas Reiter and Juliana Schwaab
Type: Article
| 2024
The circulating methylome in childhood-onset inflammatory bowel disease - Alexandra Noble, Alex Adams and Jan Nowak
Type: Article
| 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project - Alistair T. Pagnamenta, Jing Yu, Susan Walker, Alexandra J. Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carme Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Ibnouf Hussein, Sarah J. Lindsay, Fiona Lalloo, Benito Banos-Pinero, David Evans, Lucy Mallin, Adrian Waite, Julie Evans, Andrew Newman, Zoe Alllen, Christina Perez-Becerril, Gavin Ryan, Rachel Hart, John Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw-Smith, D. Gareth Evans, George J. Burghel, Miriam J. Smith, Emily Anderson, Rajesh Madhu, Helen Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T. Rogers, Jackie A. Cook, Miranda Durkie, James E. East, Darren Fowler, Louise Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H. Uhlig and Jenny C. Taylor
Type: Article
| 2024
Membrane lipid composition of bronchial epithelial cells influences antiviral responses during rhinovirus infection - Madhuriben H. Panchal, Emily J. Swindle and Theresa J. Pell
Type: Article
| 2024
| Item availability restricted.
Capture-based targated sequencing using a T cell control in myeloid malignancies and idiopathic cytopenias - G. Pietka, C. De Lord, G. Matthias, B. Cheung, S. Atwal, M. Furtado, J.O. Cullis, E. Grey-Davies, S. Narayanan, A. McGregor, M. Kilner, J. Bosworth, M. McMullin, T. Coats, A. Parcharidou, J. Cavenagh, J. Byrne, S. Iyengar, K. Mohammed, N.C.P. Cross, M. Hubank, S. Ribeiro, J. Khorashad, D. Wren, S. O'Connor and D.C. Taussig
Type: Article
| 2024
| Item availability restricted.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder - Eleanor G. Seaby, Annie Godwin and Géraldine Meyer-Dilhet
Type: Article
| 2024
A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project - Eleanor G. Seaby, Gary Leggatt, Guo Cheng, N. Simon Thomas, James J. Ashton, Imogen Stafford, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria and Sarah Ennis
Type: Article
| 2024
The association of urinary sodium excretion with glaucoma and related traits in a large United Kingdom population - Kelsey V. Stuart, Mahantesh I. Biradar, Robert N. Luben, Neeraj Dhaun, Siegfried K. Wagner, Alasdair N. Warwick, Zihan Sun, Kian M. Madjedi, Louis R. Pasquale, Janey L. Wiggs, Jae H. Kang, Marleen A.H. Lentjes, Hugues Aschard, Jihye Kim, Paul J. Foster and Anthony P. Khawaja
Type: Article
| 2024
Obstructive and restrictive spirometry from school age to adulthood: three birth cohort studies - Anhar Ullah, Raquel Granell, Sadia Haider, Lesley Lowe, Sara Fontanella, Hasan Arshad, Clare S. Murray, Steve Turner, John W. Holloway, Angela Simpson, Graham Roberts and Adnan Custovic
Type: Article
| 2024
Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders - Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G.L. Douglas, John Holloway, Francisco E. Baralle, Marco Baralle and Diana Baralle
Type: Article
| 2024
| Item availability restricted.
Association of psoriasis with allergic multimorbidity of asthma, rhinitis, and eczema among adolescents: a cross-sectional study - Ali H. Ziyab, Yaser Ali, Dina Zein, Manal Al-Kandari, John W. Holloway and Wilfried Karamaus
Type: Article
| 2024
Dataset
Type: Dataset
| 2024
| University of Southampton
Type: Dataset
| 2024
| University of Southampton
| Item availability restricted.