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 2023
 | Up a level |
Number of items: 53.
Article
The paediatric Crohn’s disease morbidity index (PCD-MI); development of a tool to assess long-term disease burden using a data driven approach - James Ashton, Abhilasha Gurung, Cai Davis, Eleanor Seaby, Tracy Coelho, Akshay Batra, Nadeem A. Afzal, Sarah Ennis and R. Mark Beattie
Type: Article
| 2023
Variation in access and prescription of vedolizumab and ustekinumab in paediatric patients with inflammatory bowel disease: A UK-wide study - Marcus Karl-Heinz Auth, James John Ashton, Kelsey D.J. Jones, Astor Rodrigues, Dhamyanthi Thangarajah, David Devadason, Gemma Lee, Mashhood Ayaz, Huey Miin Lee and Jochen Kammermeier
Type: Article
| 2023
Exonic splicing code and coordination of divalent metals in proteins - Dara Bakhtiar, Katarina Vondraskova, Reuben J. Pengelly, Martin Chivers, Jana Kralovicova and Igor Vorechovsky
Type: Article
| 2023
Gene expression in cord blood and tuberculosis in early childhood: a nested case-control study in a South African birth cohort - Carly A. Bobak, Maresa Botha, Lesley Workman, Jane E. Hill, Mark Nicol, John W. Holloway, Dan J. Stein, Leonardo Martinez and Heather J. Zar
Type: Article
| 2023
Alu RNA fold links splicing with signal recognition particle proteins - Ivana Borovská, Igor Vořechovský and Jana Královičová
Type: Article
| 2023
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation - Ashley Budu-Aggrey, Anna Kilanowski, Maria K. Sobczyk, Suyash S Shringarpure, Ruth Mitchell, Kadri Reis, Anu Reigo, Reedik Magi, Mari Nelis, Nao Tanaka, Ben M. Brumpton, Laurent F. Thomas, Pol-Sole Navais, Christopher Flatley, Antonio Espuela-Ortiz, Esther Herrera-Luis, Jesus V.T. Lominchar, Jette Bork-Jensen, Ingo Marenholz, Alexi Arnau-Soler, Ayoung Jeong, Katherine A Fawcett, Hansjörg Baurecht, Philip Titcombe, Keith Godfrey, Sheila Barton, John Holloway and Lavinia Paternoster
Type: Article
| 2023
CNL and aCML should be considered as a single entity based on molecular profiles and outcomes - Gonzalo Carreño-Tarragona, Alberto Alvarez-Larran, Claire N Harrison, José Carlos Martínez-Ávila, Juan Carlos Hernandez-Boluda, Francisca Ferrer-Marin, Deepti H Radia, Elvira Mora Casterá, Sebastian Francis, Teresa González-Martínez, Kathryn Goddard, Manuel Perez-Encinas, Srinivasan Narayanan, Jose Maria Raya, Vikram Singh, Peter Toth, Xabier Gutiérrez, Paula Amat Martinez, Louisa McIlwaine, Magda Alobaidi, Karan Mayani, Andrew McGregor, Ruth Stuckey, Bethan Psaila, Adrian Segura, Caroline L Alvares, Kerri Davidson, Santiago Osorio, Robert Cutting, Caroline P Sweeney, Laura Rufian, Laura Moreno, Isabel Cuenca, Jeffrey Smith, María Luz Morales, Rodrigo Gil-Manso, Ioannis Koutsavlis, Lihui Wang, Adam J Mead, Maria Rozman, Joaquin Martínez-López, Rosa Ayala and Nicholas Cp Cross
Type: Article
| 2023
| Item availability restricted.
Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity weighted cohort study - Samuel Channon-Wells, Ortensia Vito, Andrew J. McArdle, Eleanor Seaby, Harsita Patel, Priyen Shah, Ekaterina Pazukhina, Clare Wilson, Claire Broderick, Giselle D'Souza, Ilana Keren, Ruud G. Nijman, Adriana Tremoulet, Daniel Munblit, Rolando Ulloa-Gutierrez, Michael J. Carter, Padmanabhan Ramnarayan, Tisham De, Clive Hoggart, Elizabeth Whittaker, Jethro A. Herberg, Myrsini Kaforou, Aubrey J. Cunnington, Oleg Blyuss and Michael Levin
Type: Article
| 2023
Type: Article
| 2023
Implementation of a gene therapy education initiative by the ASGCT and Muhimbili University of Health and Allied Sciences - Kenneth Cornetta, Samantha Kay, Florence Urio, Irene Kida Minja, Erasto Mbugi, Josephine Mgaya, Teddy Mselle, Siana Nkya, Mohamed Zahir Alimohamed, Kinuma Ndaki, Martin Bonamino, Richard C Koya, Lesha D Shah, Johnny Mahlangu, Daniela Drago, Savita Rangarajan and Giridhara Rao Jayandharan
Type: Article
| 2023
Defusing the legal and ethical minefield of epigenetic applications in the military, defense, and security context - Gratien Dalpé, Katherine Huerne, Charles Dupras, Katherine Cheung, Nicole Palmour, Eva Winkler, Karla Alex, Maxwell Mehlman, John W. Holloway, Eline Bunnik, Harald König, Isabelle M. Mansuy, Marianne G. Rots, Cheryl Erwin, Alexandre Erler, Emanuele Libertini and Yann Joly
Type: Article
| 2023
Age-related loss of chromosome Y is associated with levels of sex hormone binding globulin and clonal hematopoiesis defined by TET2, TP53, and CBL mutations - Ahmed A. Z. Dawoud, William J. Tapper and Nicholas C. P. Cross
Type: Article
| 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework - Alexander J.M. Dingemans, Max Hinne, Kim M.G. Truijen, Lia Goltstein, Jeroen Van Reeuwijk, Nicole De Leeuw, Janneke Schuurs-hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery Den Hoed, Elke De Boer, Jet Coenen-van Der Spek, Sandra Jansen, Bregje W. Van Bon, Noraly Jonis, Charlotte W. Ockeloen, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Philippe M. Campeau, Elizabeth E. Palmer, Hilde Van Esch, Gholson J. Lyon, Fowzan S. Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J. Van Der Sluijs, Gijs W.E. Santen, R. Frank Kooy, Marcel A.J. Van Gerven, Lisenka E.L.M. Vissers and Bert B.A. De Vries
Type: Article
| 2023
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis - Andrew Douglas and Diana Baralle
Type: Article
| 2023
Sphingosine-1-phosphate signalling in aneurysmal subarachnoid haemorrhage: basic science to clinical translation - Ben Gaastra, John Zhang, Will Tapper, Diederik Bulters and Ian Galea
Type: Article
| 2023
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature - Gabriella Gazdagh, David Hunt, Anna Maria Cueto Gonzalez, Htoo Wai and Diana Baralle
Type: Article
| 2023
Identification of eczema clusters and their association with filaggrin and atopic comorbidities: analysis of five birth cohorts - Sadia Haider, Raquel Granell, John A. Curtin, John W. Holloway, Sara Fontanella, Syed Hasan Arshad, Clare S. Murray, Paul Cullinan, Stephen Turner, Graham Roberts, Angela Simpson and Adnan Custovic
Type: Article
| 2023
Analysis of DNA methylation at birth and in childhood reveals changes associated with season of birth and latitude - Latha Kadalayil, Md. Zahangir Alam, Cory Haley White, Akram Ghantous, Esther Walton, Olena Gruzieva, Simon Kebede Merid, Ashish Kumar, Ritu P. Roy, Olivia Solomon, Karen Huen, Brenda Eskenazi, Peter Rzehak, Veit Grote, Jean-paul Langhendries, Elvira Verduci, Natalia Ferre, Darek Gruszfeld, Lu Gao, Weihua Guan, Xuehuo Zeng, Enrique F. Schisterman, John F. Dou, Kelly M. Bakulski, Jason I. Feinberg, Munawar Hussain Soomro, Giancarlo Pesce, Nour Baiz, Elena Isaevska, Michelle Plusquin, Marina Vafeiadi, Theano Roumeliotaki, Sabine A.S. Langie, Arnout Standaert, Catherine Allard, Patrice Perron, Luigi Bouchard, Evelien R. Van Meel, Janine F. Felix, Vincent W.V. Jaddoe, Paul D. Yousefi, Cecilia H. Ramlau-hansen, Caroline L. Relton, Elmar W. Tobi, Anne P. Starling, Ivana V. Yang, Maria Llambrich, Gillian Santorelli, Johanna Lepeule, Lucas A. Salas, Mariona Bustamante, Susan L. Ewart, Hongmei Zhang, Wilfried Karmaus, Stefan Röder, Ana Claudia Zenclussen, Jianping Jin, Wenche Nystad, Christian M. Page, Maria Magnus, Dereje D. Jima, Cathrine Hoyo, Rachel L. Maguire, Tuomas Kvist, Darina Czamara, Katri Räikkönen, Tong Gong, Vilhelmina Ullemar, Sheryl L. Rifas-shiman, Emily Oken, Catarina Almqvist, Robert Karlsson, Jari Lahti, Susan K. Murphy, Siri E. Håberg, Stephanie London, Gunda Herberth, Hasan Arshad, Jordi Sunyer, Regina Grazuleviciene, Dana Dabelea, Régine P.M. Steegers-Theunissen, Ellen A. Nohr, Thorkild I.A. Sørensen, Liesbeth Duijts, Marie-france Hivert, Vera Nelen, Maja Popovic, Manolis Kogevinas, Tim S. Nawrot, Zdenko Herceg, Isabella Annesi-maesano, M. Daniele Fallin, Edwina Yeung, Carrie V. Breton, Berthold Koletzko, Nina Holland, Joseph L. Wiemels, Erik Melén, Gemma C. Sharp, Matt J. Silver, Faisal I. Rezwan and John W. Holloway
Type: Article
| 2023
Polymorphisms in glutathione S-transferase (GST) genes modify the effect of exposure to maternal smoking metabolites in pregnancy and offspring DNA methylation - Parnian Kheirkhah Rahimabad, A. Daniel Jones, Hongmei Zhang, Su Chen, Yu Jiang, Susan Ewart, John W. Holloway, Syed Arshad, Shakiba Eslamimehr, Robert Bruce and Wilfried Karmaus
Type: Article
| 2023
Cross-ancestry genome-wide association study defines the extended CYP2D6 locus as the principal genetic determinant of endoxifen plasma concentrations - Chiea Chuen Khor, Stefan Winter, Natalia Sutiman, Thomas E Mürdter, Sylvia Chen, Joanne Siok Liu Lim, Zheng Li, Jingmei Li, Kar Seng Sim, Boian Ganchev, Diana Eccles, Bryony Eccles, William Tapper, Nathalie K Zgheib, Arafat Tfayli, Raymond Chee Hui Ng, Yoon Sim Yap, Elaine Lim, Mabel Wong, Nan Soon Wong, Peter Cher Siang Ang, Rebecca Dent, Roman Tremmel, Kathrin Klein, Elke Schaeffeler, Yitian Zhou, Volker M Lauschke, Michel Eichelbaum, Matthias Schwab, Hiltrud B Brauch, Balram Chowbay and Werner Schroth
Type: Article
| 2023
Fathers’ preconception smoking and offspring DNA methylation - Negusse Tadesse Kitaba, Gerd Toril Mørkve Knudsen, Ane Johannessen, Faisal I. Rezwan, Andrei Malinovschi, Anna Oudin, Bryndis Benediktsdottir, David Martino, Francisco Javier Callejas González, Leopoldo Palacios Gómez, Mathias Holm, Nils Oskar Jõgi, Shyamali C. Dharmage, Svein Magne Skulstad, Sarah H. Watkins, Matthew Suderman, Francisco Gómez-real, Vivi Schlünssen, Cecilie Svanes and John W. Holloway
Type: Article
| 2023
Type: Article
| 2023
Response and resistance to cladribine in patients with advanced systemic mastocytosis: a registry-based analysis - Johannes Lübke, Nicole Naumann, Georgia Metzgeroth, Sebastian Kreil, Timo Brand, Hans-Peter Horny, Karl Sotlar, Nicholas C.P. Cross, Alice Fabarius, Peter Valent, Wolf-Karsten Hofmann, Andreas Reiter and Juliana Schwaab
Type: Article
| 2023
Genetic and epigenetic associations with pre-COPD lung function trajectories - David J. Martino, Dinh S. Bui, Shuai Li, Sabrina Idrose, Jennifer Perret, Adrian Lowe, Caroline J. Lodge, Gayan Bowatte, Yuben Moodley, Paul S Thomas, Graham Zosky, Philip M. Hansbro, John Holloway, Cecile Svanse, Rosa Faner, Eugene H. Walters and Shaymali C Dharmage
Type: Article
| 2023
Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions: reevaluation of the defining characteristics in a registry-based cohort - Georgia Metzgeroth, Laurenz Steiner, Nicole Naumann, Johannes Lübke, Sebastian Kreil, Alice Fabarius, Claudia Haferlach, Torsten Haferlach, Wolf-karsten Hofmann, Nicholas C.P. Cross, Juliana Schwaab and Andreas Reiter
Type: Article
| 2023
The genomic landscape and clonal evolutionary trajectory of classical hairy cell leukemia - Luz Yurany Moreno Rueda, Dean Bryant, William J Tapper, Nicola J. Weston-Bell, David C. Wedge, Naser Ansari-Pour and Surinder S. Sahota
Type: Article
| 2023
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry - Stefanie H Mueller, Alvina G Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Miriam Dwek, Arif B. Ekici, A. Heather Eliassen and Christoph Engel
Type: Article
| 2023
Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells - Eleanor O'Brien, Carmen Tse, Ian Tracy, Ian Reddin, Joanna Selfe, Jane Gibson, William Tapper, Reuben J. Pengelly, Jinhui Gao, Ewa Aladowicz, Gemma Petts, Khin Thway, Sergey Popov, Anna Kelsey, Timothy J. Underwood, Janet Shipley and Zoë S. Walters
Type: Article
| 2023
A palindrome-like structure on 16p13.3 is associated with the formation of complex structural variations and SRRM3 haploinsufficiency - Alistair T. Pagnamenta, Yu Jing, Tracey A. Willis, Mona Hashim, Eleanor Grace Seaby, Susan Walker, Katrina Xian, Emily W.Y. Cheng, Ana Lisa Taylor Tavares, Francesca Forzano, Helen Cox, Angela F Brady, Tabib Dabir, Neeti Ghali, Santosh S. Antanur, Sarah Ennis, Diana Baralle and Jenny C. Taylor
Type: Article
| 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic, and genetic spectrum - Nisreen Rumman, Mahmoud R. Fassad, Corine Driessens, Patricia M. Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace Freke, Abdallah Hasaballah, Claire Jackson, Mai Mohamed, Reda Abu Nema, Mitali Patel, Reuben Pengelly, Ahmad Qaaqour, Bruna Rubbo, N. Simon Thomas, James Thompson, Woolf T. Walker, Gabrielle Wheway, Hannah Mitchison and Jane Lucas
Type: Article
| 2023
| Item availability restricted.
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease - Eleanor Seaby, Steven Turner, David J. Bunyan, Fariba Seyed-Rezai, Jonathan W. Essex, Rodney Gilbert and Sarah Ennis
Type: Article
| 2023
A panel-agnostic strategy ‘HIPPo’ improves diagnostic efficiency in the UK Genomic Medicine Service - Eleanor G. Seaby, N. Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O'Donnell-Luria and Sarah Ennis
Type: Article
| 2023
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis - Sofia Sirvent, Andres S. Vallejo, Emma Corden, Ying Teo, James Davies, Kalum Clayton, Eleanor G. Seaby, Chester Lai, Sarah Ennis, Rfeef Alyami, Gemma Douilhet, Lareb S.N. Dean, Matthew Loxham, Sarah Horswill, Eugene Healy, Graham Roberts, Nigel J. Hall, Peter Friedmann, Harinder Singh, Clare L. Bennett, Michael R. Ardern-Jones and Marta E. Polak
Type: Article
| 2023
Fitusiran prophylaxis in people with severe haemophilia A or haemophilia B without inhibitors (ATLAS-A/B): a multicentre, open-label, randomised, phase 3 trial - Alok Srivastava, Savita Rangarajan, Kaan Kavakli, Robert Klamroth, Gili Kenet, Liane Khoo, Chur-Woo You, Weiqun Xu, Niel Malan, Laurent Frenzel, Catherine N. Bagot, Oleksandra Stasyshyn, Chia-Yau Chang, Stacey Poloskey, Zhiying Qiu, Shauna Andersson, Baisong Mei and Steven W. Pipe
Type: Article
| 2023
Supervised machine learning classifies inflammatory bowel disease patients by subtype using whole exome sequencing data - Imogen S. Stafford, James Ashton, Enrico Mossotto, Guo Cheng, R. Mark Beattie and Sarah Ennis
Type: Article
| 2023
Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests - Larissa Ange Tchuisseu-Kwangoua, Joseph Kamtchum-Tatuene, Cedrik Tekendo-Ngongang, Reuben Pengelly and Jay Self
Type: Article
| 2023
High mitochondrial haplotype diversity found in three Pre-Hispanic roups from Colombia - Daniel Uricoechea Patiño, Andrew Collins, Oscar Julián Romero García, Gustavo Santos Vecino, José Vicente Rodríguez Cuenca, Jaime E. Bernal, Escilda Benavides Benítez, Saray Vergara Muñoz and Ignacio Briceño Balcázar
Type: Article
| 2023
Unraveling the genetic threads of history: mtDNA HVS-I analysis reveals the ancient past of the Aburra Valley - Daniel Uricoechea Patiño, Andrew Collins, Oscar Julián Romero García, Gustavo Santos Vecino, Pablo Aristizábal Espinosa, Jaime Eduardo Bernal Villegas, Escilda Benavides Benitez, Saray Vergara Muñoz and Ignacio Briceño Balcázar
Type: Article
| 2023
TRIO-related neurodevelopmental disorder - Konstantinos Varvagiannis, Lisenka E.L.M. Vissers, Diana Baralle, Bert B.A. de Vries and Gabriella Gazdagh
Type: Article
| 2023
UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases - Alasdair N. Warwick, Katie Curran, Barbra Hamill, Kelsey Stuart, Anthony P. Khawaja, Paul J. Foster, Andrew J. Lotery, Michael Quinn, Savita Madhusudhan, Konstantinos Balaskas and Tunde Peto
Type: Article
| 2023
Efficacy and safety of fitusiran prophylaxis in people with haemophilia A or haemophilia B with inhibitors (ATLAS-INH): a multicentre, open-label, randomised phase 3 trial - Guy Young, Alok Srivastava, Kaan Kavakli, Cecil Ross, Jameela Sathar, Chur-Woo You, Huyen Tran, Jing sun, Runhui Wu, Stacey Poloskey, Zhiying Qiu, Salim Kichou, Shauna Andersson, Baisong Mei and Savita Rangarajan
Type: Article
| 2023
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2 - Maria Zanti, Denise G. O'Mahony and Michael T. Parsons
Type: Article
| 2023
Current state and prospects of artificial intelligence in allergy - Merlijn van Bruegel, Rudolf S.N. Fehrmann, Marnix Bugel, Faisal I. Rezwan, John W. Holloway, Martijn C. Nawijn, Sara Fontanella, A. Custovic and Gerard H. Koppelman
Type: Article
| 2023
Monograph
Youth vaping: call for evidence - Kath Woods-Townsend, Lisa Bagust, Graham Roberts and John Holloway
Type: Monograph
| 2023
| Public Policy, University of Southampton
Dataset
Type: Dataset
| 2023
| University of Southampton
Type: Dataset
| 2023
| University of Southampton
Letter
Low dose emicizumab prophylaxis in haemophilia a patients: a pilot study from India - Shweta Bansal, Anouk A.M.T. Donners, Kathelijn Fischer, Shrinath Kshirsagar, Savita Rangarajan, Varsha Phadke, Shrutika Mhatre, Bharati Sontate, Magdelene D'Silva, Shahana Ansari and Shrimati Shetty
Type: Letter
| 2023
| Item not available on this server.
The association of DNA methylation at birth with adolescent asthma is mediated by atopy - Aniruddha Rathod, Rajesh Melaram, Hongmei Zhang, Hasan Arshad, Susan Ewart, Meredith Ray, Caroline L. Relton, Wilfried Karmaus and John W. Holloway
Type: Letter
| 2023
Review
European LeukemiaNet laboratory recommendations for the diagnosis and management of chronic myeloid leukemia - Nicholas C.P. Cross, Thomas Ernst, Susan Branford, Jean-Michel Cayuela, Michael Deininger, Alice Fabarius, Dennis Dong Hwan Kim, Katerina Machova-Polakova, Jerald P. Radich, Rudiger Hehlmann, Andreas Hochhaus, Jane F. Apperley and Simona Soverini
Type: Review
| 2023
A role for genetic modifiers in tubulointerstitial kidney diseases - Gary P. Leggatt, Eleanor G. Seaby, Kristin Veighey, Christine Gast, Rodney Gilbert and Sarah Ennis
Type: Review
| 2023
COVID‐19 and preeclampsia: the unique and the mutually nonexclusive clinical manifestations - Shrimati Shetty, Shrinath Kshirsagar, Shweta Bansal, Savita Rangarajan and Varsha Phadke
Type: Review
| 2023
Preconception origins of asthma, allergies and lung function: the influence of previous generations on the respiratory health of our children - Cecilie Svanes, John W. Holloway and Susanne Krauss‐etschmann
Type: Review
| 2023
Other
A meta-analysis of genome-wide association studies of childhood wheezing phenotypes identifiesANXA1as a susceptibility locus for persistent wheezing - R Granell, JA Curtin, S Haider, N Kitaba, S Mathie, L Gregory, LL Yates, M Tutino, J Hankinson, M Perretti, JM Vonk, SH Arshad, P Cullinan, S Fontanella, G Roberts, GH Koppelman, A Simpson, S Turner, CS Murray, C.M. Lloyd, JW Holloway and A Custovic
Type: Other
| 2023