| 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 | 795 | 2009 |
| 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, 1-21, 2016 | 321 | 2016 |
| 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 | 154 | 2020 |
| 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 | 142 | 2018 |
| Phenotypic insights into ADCY5‐associated disease FCF Chang, A Westenberger, RC Dale, M Smith, HS Pall, ... Movement Disorders 31 (7), 1033-1040, 2016 | 130 | 2016 |
| FOXP1 mutations cause intellectual disability and a recognizable phenotype AK Le Fevre, S Taylor, NH Malek, D Horn, CW Carr, OA Abdul‐Rahman, ... American journal of medical genetics Part A 161 (12), 3166-3175, 2013 | 101 | 2013 |
| The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants K Tatton-Brown, A Zachariou, C Loveday, A Renwick, S Mahamdallie, ... Wellcome open research 3, 2018 | 94 | 2018 |
| Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for … DL Bruno, D Ganesamoorthy, J Schoumans, A Bankier, D Coman, ... Journal of medical genetics 46 (2), 123-131, 2009 | 88 | 2009 |
| Clinical impact of genomic testing in patients with suspected monogenic kidney disease K Jayasinghe, Z Stark, PG Kerr, C Gaff, M Martyn, J Whitlam, B Creighton, ... Genetics in medicine 23 (1), 183-191, 2021 | 84 | 2021 |
| THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ... The American Journal of Human Genetics 97 (2), 302-310, 2015 | 76 | 2015 |
| Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review NB Tan, R Stapleton, Z Stark, MB Delatycki, A Yeung, MF Hunter, ... Molecular genetics & genomic medicine 8 (11), e1508, 2020 | 68 | 2020 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in Medicine 24 (1), 130-145, 2022 | 54 | 2022 |
| Exome sequencing in infants with congenital hearing impairment: a population-based cohort study L Downie, J Halliday, R Burt, S Lunke, E Lynch, M Martyn, Z Poulakis, ... European Journal of Human Genetics 28 (5), 587-596, 2020 | 52 | 2020 |
| Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging AR Jeffries, R Maroofian, CG Salter, BA Chioza, HE Cross, MA Patton, ... Genome research 29 (7), 1057-1066, 2019 | 45 | 2019 |
| Maternal attitudes to newborn screening for fragile X syndrome L Christie, T Wotton, B Bennetts, V Wiley, B Wilcken, C Rogers, J Boyle, ... American Journal of Medical Genetics Part A 161 (2), 301-311, 2013 | 36 | 2013 |
| Integrated multi-omics for rapid rare disease diagnosis on a national scale S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, ... Nature medicine 29 (7), 1681-1691, 2023 | 33 | 2023 |
| EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome S Griffiths, C Loveday, A Zachariou, LA Behan, K Chandler, T Cole, ... American Journal of Medical Genetics Part A 179 (4), 588-594, 2019 | 33 | 2019 |
| Alpers syndrome with mutations in POLG: clinical and investigative features MF Hunter, H Peters, R Salemi, D Thorburn, MT Mackay Pediatric neurology 45 (5), 311-318, 2011 | 32 | 2011 |
| Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome EK Baker, M Arpone, SA Vera, L Bretherton, A Ure, CM Kraan, M Bui, ... Journal of neurodevelopmental disorders 11, 1-15, 2019 | 31 | 2019 |
| A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13. 33 RN Traylor, DL Bruno, T Burgess, R Wildin, A Spencer, D Ganesamoorthy, ... PLoS One 5 (8), e12462, 2010 | 29 | 2010 |
