| Identifying the best machine learning algorithms for brain tumor segmentation, progression assessment, and overall survival prediction in the BRATS challenge S Bakas, M Reyes, A Jakab, S Bauer, M Rempfler, A Crimi, RT Shinohara, ... arXiv preprint arXiv:1811.02629, 2018 | 1857 | 2018 |
| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ... Nature Genetics, 2012 | 654 | 2012 |
| Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ... Nature genetics 44 (4), 379-380, 2012 | 398 | 2012 |
| Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ... Nature genetics 46 (2), 188-193, 2014 | 381 | 2014 |
| Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W Oostdijk, ... Nature Genetics 44 (12), 1375-1381, 2012 | 224 | 2012 |
| Next‐generation diagnostics: gene panel, exome, or whole genome? Y Sun, CAL Ruivenkamp, MJV Hoffer, T Vrijenhoek, M Kriek, ... Human mutation 36 (6), 648-655, 2015 | 203 | 2015 |
| Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome PE Thijssen, Y Ito, G Grillo, J Wang, G Velasco, H Nitta, M Unoki, ... Nature communications 6 (1), 7870, 2015 | 175 | 2015 |
| IGSF1 deficiency syndrome SD Joustra, ASP van Trotsenburg, Y Sun, M Losekoot, DJ Bernard, ... | 107* | |
| Non‐invasive detection of glycine as a biomarker of malignancy in childhood brain tumours using in‐vivo 1H MRS at 1.5 Tesla confirmed by ex‐vivo high … NP Davies, M Wilson, K Natarajan, Y Sun, L MacPherson, MA Brundler, ... NMR in Biomedicine: An International Journal Devoted to the Development and …, 2010 | 89 | 2010 |
| Mutations in TBL1X Are Associated With Central Hypothyroidism CA Heinen, M Losekoot, Y Sun, PJ Watson, L Fairall, SD Joustra, ... The Journal of Clinical Endocrinology & Metabolism 101 (12), 4564-4573, 2016 | 88 | 2016 |
| Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid … Y Sun, R Almomani, GJ Breedveld, GWE Santen, E Aten, DJ Lefeber, ... Human mutation 34 (5), 706-713, 2013 | 84 | 2013 |
| Magnetic resonance spectroscopy metabolite profiles predict survival in paediatric brain tumours M Wilson, CL Cummins, L MacPherson, Y Sun, K Natarajan, RG Grundy, ... European Journal of Cancer 49 (2), 457-464, 2013 | 84 | 2013 |
| Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene Y Sun, R Almomani, E Aten, J Celli, J Van der Heijden, H Venselaar, ... The American Journal of Human Genetics 87 (1), 146-153, 2010 | 76 | 2010 |
| Radiomic analysis in contrast-enhanced CT: predict treatment response to chemoradiotherapy in esophageal carcinoma Z Hou, W Ren, S Li, J Liu, Y Sun, J Yan, S Wan Oncotarget 8 (61), 104444, 2017 | 72 | 2017 |
| Subregional structural alterations in hippocampus and nucleus accumbens correlate with the clinical impairment in patients with Alzheimer’s disease clinical spectrum: parallel … X Nie, Y Sun, S Wan, H Zhao, R Liu, X Li, S Wu, Z Nedelska, J Hort, ... Frontiers in neurology 8, 399, 2017 | 70 | 2017 |
| Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome LA Menke, DDD study, T Gardeitchik, P Hammond, KR Heimdal, G Houge, ... American Journal of Medical Genetics Part A 176 (4), 862-876, 2018 | 69 | 2018 |
| Diagnostic application of targeted next-generation sequencing of 80 genes associated with disorders of sexual development Y Fan, X Zhang, L Wang, R Wang, Z Huang, Y Sun, R Yao, X Huang, J Ye, ... Scientific reports 7 (1), 44536, 2017 | 59 | 2017 |
| Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome Y Sun, G Hu, H Liu, X Zhang, Z Huang, H Yan, L Wang, Y Fan, X Gu, Y Yu American journal of medical genetics Part A 173 (2), 510-514, 2017 | 57 | 2017 |
| Genetic diagnostic evaluation of trio-based whole exome sequencing among children with diagnosed or suspected autism spectrum disorder X Du, X Gao, X Liu, L Shen, K Wang, Y Fan, Y Sun, X Luo, H Liu, L Wang, ... Frontiers in genetics 9, 594, 2018 | 56 | 2018 |
| MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation JE Davison, NP Davies, M Wilson, Y Sun, A Chakrapani, PJ McKiernan, ... Orphanet journal of rare diseases 6, 1-7, 2011 | 56 | 2011 |
