Jeremy McRae
Jeremy McRae
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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
Prevalence and architecture of de novo mutations in developmental disorders
DDD Study
Nature 542 (7642), 433-438, 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
Large-scale discovery of novel genetic causes of developmental disorders.
The Deciphering Developmental Disorders Study
Nature 519 (7542), 223-228, 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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