| Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ... Nature genetics 44 (11), 1243-1248, 2012 | 761 | 2012 |
| Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 727 | 2009 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 501 | 2015 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 422 | 2007 |
| Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases MM Clark, Z Stark, L Farnaes, TY Tan, SM White, D Dimmock, ... NPJ genomic medicine 3 (1), 16, 2018 | 419 | 2018 |
| 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 | 356 | 2016 |
| Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort S Eggers, S Sadedin, JA Van Den Bergen, G Robevska, T Ohnesorg, ... Genome biology 17 (1), 1-21, 2016 | 283 | 2016 |
| Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ... JAMA pediatrics 171 (9), 855-862, 2017 | 281 | 2017 |
| Long-range regulation at the SOX9 locus in development and disease CT Gordon, TY Tan, S Benko, D FitzPatrick, S Lyonnet, PG Farlie Journal of medical genetics 46 (10), 649-656, 2009 | 188 | 2009 |
| Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice TY Tan, DJ Amor Journal of paediatrics and child health 42 (9), 486-490, 2006 | 150 | 2006 |
| Developmental and genetic perspectives on Pierre Robin sequence TY Tan, N Kilpatrick, PG Farlie American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2013 | 135 | 2013 |
| Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness Z Stark, D Schofield, M Martyn, L Rynehart, R Shrestha, K Alam, S Lunke, ... Genetics in Medicine 21 (1), 173-180, 2019 | 128 | 2019 |
| Meeting the challenges of implementing rapid genomic testing in acute pediatric care Z Stark, S Lunke, GR Brett, NB Tan, R Stapleton, S Kumble, A Yeung, ... Genetics in Medicine 20 (12), 1554-1563, 2018 | 125 | 2018 |
| Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia AB Campos-Xavier, D Martinet, J Bateman, D Belluoccio, L Rowley, ... The American Journal of Human Genetics 84 (6), 760-770, 2009 | 121 | 2009 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 118 | 2020 |
| Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders OJ Dillon, S Lunke, Z Stark, A Yeung, N Thorne, ... European Journal of Human Genetics 26 (5), 644-651, 2018 | 110 | 2018 |
| 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 | 92 | 2021 |
| SYT1-associated neurodevelopmental disorder: a case series K Baker, SL Gordon, H Melland, F Bumbak, DJ Scott, TJ Jiang, D Owen, ... Brain 141 (9), 2576-2591, 2018 | 86 | 2018 |
| Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence CT Gordon, C Attanasio, S Bhatia, S Benko, M Ansari, TY Tan, A Munnich, ... Human mutation 35 (8), 1011-1020, 2014 | 85 | 2014 |
| De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea F Xia, MN Bainbridge, TY Tan, MF Wangler, AE Scheuerle, EH Zackai, ... The American Journal of Human Genetics 94 (5), 784-789, 2014 | 84 | 2014 |
