Jack A. Kosmicki
Jack A. Kosmicki
Adresse e-mail validée de fas.harvard.edu
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Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
71352016
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ...
Nature 515 (7526), 209-215, 2014
17012014
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
1246*2020
A framework for the interpretation of de novo mutation in human disease
KE Samocha, EB Robinson, SJ Sanders, C Stevens, A Sabo, LM McGrath, ...
Nature genetics 46 (9), 944-950, 2014
7492014
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ...
Nature genetics 49 (7), 978-985, 2017
360*2017
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
2842020
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
EB Robinson, B St Pourcain, V Anttila, JA Kosmicki, B Bulik-Sullivan, ...
Nature genetics 48 (5), 552-555, 2016
2802016
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
2332019
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
JA Kosmicki, KE Samocha, DP Howrigan, SJ Sanders, K Slowikowski, ...
Nature genetics 49 (4), 504, 2017
1952017
Use of machine learning to shorten observation-based screening and diagnosis of autism
DP Wall, J Kosmicki, TF Deluca, E Harstad, VA Fusaro
Translational psychiatry 2 (4), e100-e100, 2012
1762012
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
1132018
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
EB Robinson, KE Samocha, JA Kosmicki, L McGrath, BM Neale, ...
Proceedings of the National Academy of Sciences 111 (42), 15161-15165, 2014
1112014
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
1052018
Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning
JA Kosmicki, V Sochat, M Duda, DP Wall
Translational psychiatry 5 (2), e514-e514, 2015
932015
Regional missense constraint improves variant deleteriousness prediction
KE Samocha, JA Kosmicki, KJ Karczewski, AH O’Donnell-Luria, ...
BioRxiv, 148353, 2017
812017
Testing the accuracy of an observation-based classifier for rapid detection of autism risk
M Duda, JA Kosmicki, DP Wall
Translational psychiatry 4 (8), e424-e424, 2014
572014
A potential contributory role for ciliary dysfunction in the 16p11. 2 600 kb BP4-BP5 pathology
E Migliavacca, C Golzio, K Männik, I Blumenthal, EC Oh, L Harewood, ...
The American Journal of Human Genetics 96 (5), 784-796, 2015
442015
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
FK Satterstrom, RK Walters, T Singh, EM Wigdor, F Lescai, D Demontis, ...
Nature neuroscience 22 (12), 1961-1965, 2019
43*2019
Discovery of rare variants for complex phenotypes
JA Kosmicki, CL Churchhouse, MA Rivas, BM Neale
Human genetics 135 (6), 625-634, 2016
402016
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
28*2020
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