| Characterising the loss-of-function impact of 5’untranslated region variants in 15,708 individuals N Whiffin, KJ Karczewski, X Zhang, S Chothani, MJ Smith, DG Evans, ... Nature communications 11 (1), 2523, 2020 | 141 | 2020 |
| Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy R Walsh, F Mazzarotto, N Whiffin, R Buchan, W Midwinter, A Wilk, N Li, ... Genome medicine 11, 1-18, 2019 | 133 | 2019 |
| Reference genome of wild goat (capra aegagrus) and sequencing of goat breeds provide insight into genic basis of goat domestication Y Dong, X Zhang, M Xie, B Arefnezhad, Z Wang, W Wang, S Feng, ... BMC genomics 16, 1-11, 2015 | 129 | 2015 |
| CardioClassifier: disease-and gene-specific computational decision support for clinical genome interpretation N Whiffin, R Walsh, R Govind, M Edwards, M Ahmad, X Zhang, U Tayal, ... Genetics in Medicine 20 (10), 1246-1254, 2018 | 92 | 2018 |
| Quality Variation of Goji (Fruits of Lycium spp.) in China: A Comparative Morphological and Metabolomic Analysis R Yao, M Heinrich, Y Zou, E Reich, X Zhang, Y Chen, CS Weckerle Frontiers in Pharmacology 9, 151, 2018 | 83 | 2018 |
| Phenotypic expression and outcomes in individuals with rare genetic variants of hypertrophic cardiomyopathy A de Marvao, KA McGurk, SL Zheng, M Thanaj, W Bai, J Duan, C Biffi, ... Journal of the American College of Cardiology 78 (11), 1097-1110, 2021 | 64 | 2021 |
| Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions X Zhang, R Walsh, N Whiffin, R Buchan, W Midwinter, A Wilk, R Govind, ... Genetics in Medicine 23 (1), 69-79, 2021 | 46 | 2021 |
| Annotating high-impact 5'untranslated region variants with the UTRannotator X Zhang, MN Wakeling, JS Ware, N Whiffin Bioinformatics, 2020 | 40 | 2020 |
| Progressive multiple sequence alignment with indel evolution M Maiolo, X Zhang, M Gil, M Anisimova BMC bioinformatics 19, 1-8, 2018 | 31 | 2018 |
| Titin circular RNAs create a back-splice motif essential for SRSF10 splicing AJ Tijsen, L Cócera Ortega, YJ Reckman, X Zhang, I van der Made, ... Circulation 143 (15), 1502-1512, 2021 | 23 | 2021 |
| ClinVar data parsing X Zhang, EV Minikel, AH O'Donnell-Luria, DG MacArthur, JS Ware, ... Wellcome Open Research, 2017 | 20 | 2017 |
| The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings KA McGurk, X Zhang, P Theotokis, K Thomson, A Harper, RJ Buchan, ... The American Journal of Human Genetics 110 (9), 1482-1495, 2023 | 7 | 2023 |
| Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery X Zhang, PI Theotokis, N Li, SHaRe Investigators, CF Wright, ... medRxiv, 2022.02. 16.22271023, 2022 | 2 | 2022 |
| Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants A de Marvao, KA McGurk, SL Zheng, M Thanaj, W Bai, J Duan, C Biffi, ... medRxiv, 2021.01. 21.21249470, 2021 | 2 | 2021 |
| Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery X Zhang, PI Theotokis, N Li, CF Wright, KE Samocha, N Whiffin, JS Ware Genome Medicine 16 (1), 88, 2024 | | 2024 |
| Variant annotation across homologous proteins (Paralogue Annotation) identifies disease-causing missense variants with high precision, and is widely applicable across protein … N Li, E Mazaika, P Theotokis, X Zhang, M Jang, M Ahmad, G Powell, ... bioRxiv, 2023.08. 07.552236, 2023 | | 2023 |
| Genetic intolerance across homologous protein domains identifies TTN missense variants with a role in dilated cardiomyopathy X Zhang, P Theotokis, N Whiffin, J Ware EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 649-649, 2020 | | 2020 |
| Progressive Multiple Sequence Alignment with the Poisson Indel Process M Maiolo, X Zhang, M Gil, M Anisimova bioRxiv, 123513, 2017 | | 2017 |
| Analysis of Bias and Reliability of Progressive Poisson Indel Process Algorithm X Zhang ETH Zurich, 2016 | | 2016 |
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College LondonBestätigte E-Mail-Adresse bei imperial.ac.uk
