| " Experience is the teacher of all things"-upskilling the genomics workforce in variant interpretation F Cunningham, S Lunke, TY Tan, M Martyn, E Lynch, SNA Roesley, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 672-672, 2019 | | 2019 |
| 17p13. 3 class I microduplication in a newborn with microcephaly, aortic stenosis and dysmorphic facial features A Ho, A Liu, KS Lun, T Tam, K Chan, E Lau, M Tang, T Tan, B Chung 香港兒科醫學雜誌, 2011 | | 2011 |
| A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data Z Stark, H Dashnow, S Lunke, TY Tan, A Yeung, S Sadedin, N Thorne, ... European Journal of Human Genetics 25 (11), 1268-1272, 2017 | 26 | 2017 |
| A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients A Yeung, NB Tan, TY Tan, Z Stark, N Brown, MF Hunter, M Delatycki, ... Genetics in Medicine 22 (12), 1986-1993, 2020 | 26 | 2020 |
| A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients A Yeung, NB Tan, TY Tan, Z Stark, N Brown, MJ Hunter, M Delatycki, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 54-54, 2020 | | 2020 |
| A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations E Lee, T Le, Y Zhu, G Elakis, A Turner, W Lo, H Venselaar, ... Genetics in Medicine 20 (9), 1061-1068, 2018 | 41 | 2018 |
| A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome SM White, E Bhoj, C Nellåker, AMA Lachmeijer, AE Marshall, KM Boycott, ... The American Journal of Human Genetics 108 (4), 749-756, 2021 | 8 | 2021 |
| A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 117 | 2021 |
| A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis TY Tan, S Lunke, B Chong, D Phelan, M Fanjul-Fernandez, JE Marum, ... European Journal of Human Genetics 27 (12), 1791-1799, 2019 | 46 | 2019 |
| A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases MM Clark, Z Stark, L Farnaes, TY Tan, SM White, D Dimmock, ... bioRxiv, 255299, 2018 | 4 | 2018 |
| A mouse splice-site mutant and individuals with atypical chromosome 22q11. 2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development KA Miller, TY Tan, MF Welfare, SM White, Z Stark, R Savarirayan, ... Molecular syndromology 5 (6), 276-286, 2014 | 14 | 2014 |
| A newborn with a 790 kb chromosome 17p13. 3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features–Is cardiac assessment necessary for … ACC Ho, APY Liu, KS Lun, WF Tang, KYK Chan, EYT Lau, MHY Tang, ... European Journal of Medical Genetics 55 (12), 758-762, 2012 | 17 | 2012 |
| A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9 AP Marsh, P Yap, T Tan, K Pope, SM White, B Chong, G Mcgillivray, ... Am J Med Genet A 173 (03), 820-823, 2017 | 12 | 2017 |
| A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like … T Rinne, SE Clements, E Lamme, PHG Duijf, E Bolat, R Meijer, H Scheffer, ... Human molecular genetics 17 (13), 1968-1977, 2008 | 71 | 2008 |
| A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome TY Tan, A Bankier, HR Slater, EL Northrop, M Zacharin, R Savarirayan American Journal of Medical Genetics Part A 139 (3), 216-220, 2005 | 21 | 2005 |
| A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus? TY Tan, C Whitelaw, R Savarirayan Clinical Dysmorphology 16 (4), 271-273, 2007 | 3 | 2007 |
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genetics in medicine 18 (11), 1090-1096, 2016 | 400 | 2016 |
| Association of congenital teratoma with neurofibromatosis type 1. P Yap, L Super, J Qin, T Burgess, C Edwards, Z Prodanovic, R Thomas, ... Twin Research and Human Genetics, 2024 | | 2024 |
| Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location TY Tan, G McGillivray, L Kornman, AM Fink, A Superti‐Furga, L Bonafé, ... American journal of medical genetics Part A 135 (3), 324-327, 2005 | 9 | 2005 |
| Bi-allelic ADARB1 variants associated with microcephaly, intellectual disability, and seizures TY Tan, J Sedmík, MP Fitzgerald, RS Halevy, LP Keegan, I Helbig, ... The American Journal of Human Genetics 106 (4), 467-483, 2020 | 42 | 2020 |
