| 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 | 696 | 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 | 412 | 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 | 396 | 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 | 237 | 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 | 210 | 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 | 197 | 2015 |
| IGSF1 deficiency syndrome SD Joustra, ASP van Trotsenburg, Y Sun, M Losekoot, DJ Bernard, ... | 113* | |
| 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 | 91 | 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 | 88 | 2013 |
| 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 | 80 | 2018 |
| 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 | 78 | 2010 |
| 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 | 66 | 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 | 66 | 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 | 56 | 2017 |
| Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities B Xiao, W Qiu, X Ji, X Liu, Z Huang, H Liu, Y Fan, Y Xu, YU Liu, H Yie, ... American journal of medical genetics Part A 176 (1), 107-115, 2018 | 48 | 2018 |
| Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions Y Fan, Y Wu, L Wang, Y Wang, Z Gong, W Qiu, J Wang, H Zhang, X Ji, ... BMC medical genomics 11, 1-8, 2018 | 45 | 2018 |
| Genetic evaluation of 114 Chinese short stature children in the next generation era: a single center study Z Huang, Y Sun, Y Fan, L Wang, H Liu, Z Gong, J Wang, H Yan, Y Wang, ... Cellular Physiology and Biochemistry 49 (1), 295-305, 2018 | 43 | 2018 |
| IGSF1 deficiency syndrome: a newly uncovered endocrinopathy SD Joustra, ASP van Trotsenburg, Y Sun, M Losekoot, DJ Bernard, ... Rare diseases 1 (1), 1375-81, 2013 | 43 | 2013 |
| Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome–acroplaxome complex P Chen, H Saiyin, R Shi, B Liu, X Han, Y Gao, X Ye, X Zhang, Y Sun Human Reproduction 36 (9), 2587-2596, 2021 | 40 | 2021 |
| Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia Y Sun, G Hu, J Luo, D Fang, Y Yu, X Wang, J Chen, W Qiu Journal of human genetics 62 (6), 647-651, 2017 | 37 | 2017 |
