| Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ... Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015 | 553 | 2015 |
| Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa A Buskin, L Zhu, V Chichagova, B Basu, S Mozaffari-Jovin, D Dolan, ... Nature communications 9 (1), 4234, 2018 | 177 | 2018 |
| cAMP response element‐binding (CREB) recruitment following a specific CpG demethylation leads to the elevated expression of the matrix metalloproteinase 13 in human articular … C Bui, MJ Barter, JL Scott, Y Xu, M Galler, LN Reynard, AD Rowan, ... The FASEB Journal 26 (7), 3000-3011, 2012 | 125 | 2012 |
| An essential role for the Zn2+ transporter ZIP7 in B cell development C Anzilotti, DJ Swan, B Boisson, M Deobagkar-Lele, C Oliveira, ... Nature immunology 20 (3), 350-361, 2019 | 111 | 2019 |
| Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA Y Xu, MJ Barter, DC Swan, KS Rankin, AD Rowan, M Santibanez-Koref, ... Osteoarthritis and cartilage 20 (9), 1029-1038, 2012 | 94 | 2012 |
| HDBR expression: a unique resource for global and individual gene expression studies during early human brain development SJ Lindsay, Y Xu, SN Lisgo, LF Harkin, AJ Copp, D Gerrelli, GJ Clowry, ... Frontiers in Neuroanatomy 10, 86, 2016 | 81 | 2016 |
| The long non-coding RNA ROCR contributes to SOX9 expression and chondrogenic differentiation of human mesenchymal stem cells MJ Barter, R Gomez, S Hyatt, K Cheung, AJ Skelton, Y Xu, IM Clark, ... Development 144 (24), 4510-4521, 2017 | 78 | 2017 |
| An induced pluripotent stem cell patient specific model of complement factor H (Y402H) polymorphism displays characteristic features of age-related macular degeneration and … D Hallam, J Collin, S Bojic, V Chichagova, A Buskin, Y Xu, L Lafage, ... Stem Cells 35 (11), 2305-2320, 2017 | 67 | 2017 |
| Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons A Best, K James, C Dalgliesh, E Hong, M Kheirolahi-Kouhestani, T Curk, ... Nature communications 5 (1), 4760, 2014 | 64 | 2014 |
| Neurexins 1–3 each have a distinct pattern of expression in the early developing human cerebral cortex LF Harkin, SJ Lindsay, Y Xu, A Alzu'bi, A Ferrara, EA Gullon, OG James, ... Cerebral Cortex 27 (1), 216-232, 2017 | 57 | 2017 |
| Thrombotic microangiopathy in inverted formin 2–mediated renal disease RC Challis, T Ring, Y Xu, EKS Wong, O Flossmann, ISD Roberts, ... Journal of the American Society of Nephrology 28 (4), 1084-1091, 2017 | 52 | 2017 |
| Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy M Giunta, S Edvardson, Y Xu, M Schuelke, A Gomez-Duran, V Boczonadi, ... Human molecular genetics 25 (14), 2985-2996, 2016 | 48 | 2016 |
| Identification of long non-coding RNAs expressed in knee and hip osteoarthritic cartilage B Ajekigbe, K Cheung, Y Xu, AJ Skelton, A Panagiotopoulos, J Soul, ... Osteoarthritis and Cartilage 27 (4), 694-702, 2019 | 43 | 2019 |
| A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’ N Edwards, SJ Rice, S Raman, AM Hynes, S Srivastava, I Moore, ... Clinical kidney journal 8 (1), 113-119, 2015 | 36 | 2015 |
| iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors D Melguizo-Sanchis, Y Xu, D Taheem, M Yu, K Tilgner, T Barta, ... Cell death & disease 9 (2), 128, 2018 | 34 | 2018 |
| Astute clinician report: a novel 10 bp frameshift deletion in exon 2 of ICOS causes a combined immunodeficiency associated with an enteritis and hepatitis N Robertson, KR Engelhardt, NV Morgan, D Barge, AJ Cant, SM Hughes, ... Journal of clinical immunology 35, 598-603, 2015 | 31 | 2015 |
| Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing KR Engelhardt, Y Xu, A Grainger, MGC Germani Batacchi, DJ Swan, ... Journal of clinical immunology 37, 42-50, 2017 | 28 | 2017 |
| A SLM2 feedback pathway controls cortical network activity and mouse behavior I Ehrmann, MR Gazzara, V Pagliarini, C Dalgliesh, ... Cell reports 17 (12), 3269-3280, 2016 | 23 | 2016 |
| Scalable and efficient whole-exome data processing using workflows on the cloud J Cała, E Marei, Y Xu, K Takeda, P Missier Future Generation Computer Systems 65, 153-168, 2016 | 23 | 2016 |
| Identification of 34 novel proinflammatory proteins in a genome-wide macrophage functional screen DH Wyllie, KC Søgaard, K Holland, X Yaobo, M Bregu, AVS Hill, ... Public Library of Science 7 (7), e42388, 2012 | 12 | 2012 |
