| 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 | 830 | 2015 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 767 | 2015 |
| Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ... Nature genetics 47 (11), 1363-1369, 2015 | 167 | 2015 |
| A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders DA King, TW Fitzgerald, R Miller, N Canham, J Clayton-Smith, D Johnson, ... Genome research 24 (4), 673-687, 2014 | 67 | 2014 |
| Mosaic structural variation in children with developmental disorders DA King, WD Jones, YJ Crow, AF Dominiczak, NA Foster, TR Gaunt, ... Human molecular genetics 24 (10), 2733-2745, 2015 | 57 | 2015 |
| Absence of heterozygosity due to template switching during replicative rearrangements CMB Carvalho, R Pfundt, DA King, SJ Lindsay, LW Zuccherato, ... The American Journal of Human Genetics 96 (4), 555-564, 2015 | 52 | 2015 |
| Merryn VE Macville, 5 Pengfei Liu, Diana Johnson, 6 Pawel Stankiewicz, Chester W. Brown, DDD Study, Chad A. Shaw, Matthew E. Hurles, 4 Grzegorz Ira, PJ Hastings, Han G. Brunner … CMB Carvalho, R Pfundt, DA King, SJ Lindsay, LW Zuccherato | | |
