| Predicting splicing from primary sequence with deep learning K Jaganathan, SK Panagiotopoulou, JF McRae, SF Darbandi, D Knowles, ... Cell 176 (3), 535-548. e24, 2019 | 1779 | 2019 |
| Prevalence and architecture of de novo mutations in developmental disorders DDD Study Nature 542 (7642), 433-438, 2017 | 963 | 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 | 858 | 2015 |
| Large-scale discovery of novel genetic causes of developmental disorders. The Deciphering Developmental Disorders Study Nature 519 (7542), 223-228, 2015 | 783 | 2015 |
| Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders T Singh, MI Kurki, D Curtis, SM Purcell, L Crooks, J McRae, J Suvisaari, ... Nature neuroscience 19 (4), 571-577, 2016 | 460 | 2016 |
| Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 445 | 2020 |
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 423 | 2016 |
| Predicting the clinical impact of human mutation with deep neural networks L Sundaram, H Gao, SR Padigepati, JF McRae, Y Li, JA Kosmicki, ... Nature genetics 50 (8), 1161-1170, 2018 | 415 | 2018 |
| Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders CF Wright, JF McRae, S Clayton, G Gallone, S Aitken, TW FitzGerald, ... Genetics in Medicine 20 (10), 1216-1223, 2018 | 330 | 2018 |
| Common genetic variants contribute to risk of rare severe neurodevelopmental disorders MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon, M Kelemen, ... Nature 562 (7726), 268–271, 2018 | 320 | 2018 |
| De novo mutations in regulatory elements in neurodevelopmental disorders PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ... Nature 555 (7698), 611-616, 2018 | 271 | 2018 |
| 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 | 219 | 2018 |
| A Mendelian trait for olfactory sensitivity affects odor experience and food selection SR Jaeger, JF McRae, CM Bava, MK Beresford, D Hunter, Y Jia, ... Current Biology 23 (16), 1601-1605, 2013 | 193 | 2013 |
| Quantifying the contribution of recessive coding variation to developmental disorders HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ... Science 362 (6419), 1161-1164, 2018 | 184 | 2018 |
| BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription C Dias, SB Estruch, SA Graham, J McRae, SJ Sawiak, JA Hurst, SK Joss, ... The American Journal of Human Genetics 99 (2), 253-274, 2016 | 173 | 2016 |
| 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, A Brady, ... Nature Genetics 47 (11), 1363–1369, 2015 | 171 | 2015 |
| Genetic Variation in the Odorant Receptor OR2J3 Is Associated with the Ability to Detect the “Grassy” Smelling Odor, cis-3-hexen-1-ol JF McRae, JD Mainland, SR Jaeger, KA Adipietro, H Matsunami, ... Chemical senses 37 (7), 585-593, 2012 | 132 | 2012 |
| Deep learning-based techniques for training deep convolutional neural networks H Gao, F Kai-How, L Sundaram, JF McRAE US Patent 10,423,861, 2019 | 92 | 2019 |
| Identification of regions associated with variation in sensitivity to food-related odors in the human genome JF McRae, SR Jaeger, CM Bava, MK Beresford, D Hunter, Y Jia, ... Current Biology 23 (16), 1596-1600, 2013 | 90 | 2013 |
| Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy M Muona, R Ishimura, A Laari, Y Ichimura, T Linnankivi, R Keski-Filppula, ... The American Journal of Human Genetics 99 (3), 683-694, 2016 | 85 | 2016 |
Matthew HurlesDirector, Senior Group Leader in Human Genetics, Wellcome Sanger InstituteVerified email at sanger.ac.uk
