| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 1033 | 2017 |
| Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ... The Lancet 385 (9975), 1305-1314, 2015 | 896 | 2015 |
| Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene F Denoyelle, D Weil, MA Maw, SA Wilcox, NJ Lench, DR Allen-Powell, ... Human molecular genetics 6 (12), 2173-2177, 1997 | 846 | 1997 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 819 | 2015 |
| The global state of the genetic counseling profession MA Abacan, L Alsubaie, K Barlow-Stewart, B Caanen, C Cordier, ... European Journal of Human Genetics 27 (2), 183-197, 2019 | 380 | 2019 |
| Human germline genome editing KE Ormond, DP Mortlock, DT Scholes, Y Bombard, LC Brody, WA Faucett, ... The American Journal of Human Genetics 101 (2), 167-176, 2017 | 305 | 2017 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 243 | 2018 |
| Attitudes of deaf adults toward genetic testing for hereditary deafness A Middleton, J Hewison, RF Mueller The American Journal of Human Genetics 63 (4), 1175-1180, 1998 | 239 | 1998 |
| Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research A Middleton, KI Morley, E Bragin, HV Firth, ME Hurles, CF Wright, ... European Journal of Human Genetics 24 (1), 21-29, 2016 | 211 | 2016 |
| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 201 | 2021 |
| Genetic counseling globally: Where are we now? KE Ormond, MY Laurino, K Barlow‐Stewart, TM Wessels, S Macaulay, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018 | 195 | 2018 |
| Physiotherapy for cystic fibrosis in Australia and New Zealand: a clinical practice guideline BM Button, C Wilson, R Dentice, NS Cox, A Middleton, E Tannenbaum, ... Respirology 21 (4), 656-667, 2016 | 186 | 2016 |
| Genetic counselling in the era of genomic medicine C Patch, A Middleton British Medical Bulletin 126 (1), 27-36, 2018 | 168 | 2018 |
| Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ... New England Journal of Medicine 388 (17), 1559-1571, 2023 | 144 | 2023 |
| Global public perceptions of genomic data sharing: what shapes the willingness to donate DNA and health data? A Middleton, R Milne, MA Almarri, S Anwer, J Atutornu, EE Baranova, ... The American Journal of Human Genetics 107 (4), 743-752, 2020 | 134 | 2020 |
| Prevalence of perinatal depression in low-and middle-income countries: a systematic review and meta-analysis AR Mitchell, H Gordon, A Lindquist, SP Walker, CSE Homer, A Middleton, ... JAMA psychiatry 80 (5), 425-431, 2023 | 120 | 2023 |
| Prenatal diagnosis for inherited deafness—what is the potential demand? A Middleton, J Hewison, R Mueller Journal of genetic counseling 10 (2), 121-131, 2001 | 120 | 2001 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 108 | 2018 |
| The global landscape of nursing and genomics KA Calzone, M Kirk, E Tonkin, L Badzek, C Benjamin, A Middleton Journal of nursing scholarship 50 (3), 249-256, 2018 | 108 | 2018 |
| Key considerations around the risks and consequences of hypoglycaemia in people with type 2 diabetes AH Barnett, S Cradock, M Fisher, G Hall, E Hughes, A Middleton International journal of clinical practice 64 (8), 1121-1129, 2010 | 107 | 2010 |
