Kaitlin E. Samocha
Kaitlin E. Samocha
Verified email at sanger.ac.uk
TitleCited byYear
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, 2016
53422016
Patterns and rates of exonic de novo mutations in autism spectrum disorders
BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ...
Nature 485 (7397), 242, 2012
14802012
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, 2014
13092014
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ...
Neuron 87 (6), 1215-1233, 2015
5992015
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, 2014
5902014
Searching for missing heritability: designing rare variant association studies
O Zuk, SF Schaffner, K Samocha, R Do, E Hechter, S Kathiresan, MJ Daly, ...
Proceedings of the National Academy of Sciences 111 (4), E455-E464, 2014
4642014
High-throughput discovery of novel developmental phenotypes
ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong, JK White, ...
Nature 537 (7621), 508, 2016
3052016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ...
Science 350 (6265), 1262-1266, 2015
2802015
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, 2016
2202016
The ExAC browser: displaying reference data information from over 60 000 exomes
KJ Karczewski, B Weisburd, B Thomas, M Solomonson, DM Ruderfer, ...
Nucleic acids research 45 (D1), D840-D845, 2016
1942016
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, 2017
1612017
Quantifying prion disease penetrance using large population control cohorts
EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ...
Science translational medicine 8 (322), 322ra9-322ra9, 2016
1532016
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ...
Nature genetics 47 (1), 39, 2015
1442015
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
1362017
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity
DG Grimm, CA Azencott, F Aicheler, U Gieraths, DG MacArthur, ...
Human mutation 36 (5), 513-523, 2015
1362015
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
D Saleheen, P Natarajan, IM Armean, W Zhao, A Rasheed, SA Khetarpal, ...
Nature 544 (7649), 235, 2017
1252017
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
BioRxiv, 531210, 2019
1132019
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
DM Ruderfer, T Hamamsy, M Lek, KJ Karczewski, D Kavanagh, ...
Nature genetics 48 (10), 1107, 2016
1052016
Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations
R Cheng, JE Lim, KE Samocha, G Sokoloff, M Abney, AD Skol, AA Palmer
Genetics 185 (3), 1033-1044, 2010
982010
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
L Liu, A Sabo, BM Neale, U Nagaswamy, C Stevens, E Lim, CA Bodea, ...
PLoS genetics 9 (4), e1003443, 2013
892013
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