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Beryl Cummings
Beryl Cummings
Marea Therapeutics
在 thirdrockventures.com 的电子邮件经过验证
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引用次数
引用次数
年份
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
104512016
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
76722020
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ...
Nature 550 (7675), 204-213, 2017
34412017
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
11752019
Landscape of X chromosome inactivation across human tissues
T Tukiainen, AC Villani, A Yen, MA Rivas, JL Marshall, R Satija, M Aguirre, ...
Nature 550 (7675), 244-248, 2017
8932017
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, 2017
7642017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
6902017
Alfö ldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings
Nature 581 (7809), 434-43, 2020
3372020
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
XR Ma, M Prudencio, Y Koike, SC Vatsavayai, G Kim, F Harbinski, ...
Nature 603 (7899), 124-130, 2022
2922022
The genetic landscape of Diamond-Blackfan anemia
JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, ...
The American Journal of Human Genetics 103 (6), 930-947, 2018
2432018
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1822020
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
A Saha, Y Kim, ADH Gewirtz, B Jo, C Gao, IC McDowell, BE Engelhardt, ...
Genome research 27 (11), 1843-1858, 2017
1772017
Transcriptome variation in human tissues revealed by long-read sequencing
DA Glinos, G Garborcauskas, P Hoffman, N Ehsan, L Jiang, A Gokden, ...
Nature 608 (7922), 353-359, 2022
1592022
Evaluating drug targets through human loss-of-function genetic variation
EV Minikel, KJ Karczewski, HC Martin, BB Cummings, N Whiffin, ...
Nature 581 (7809), 459-464, 2020
1482020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Q Wang, E Pierce-Hoffman, BB Cummings, J Alföldi, LC Francioli, ...
Nature communications 11 (1), 2539, 2020
1432020
Congenital titinopathy: comprehensive characterization and pathogenic insights
EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ...
Annals of neurology 83 (6), 1105-1124, 2018
1202018
Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alfoldi, Q Wang, ...
Nature 581 (7809), 434-443, 0
120
The effect of LRRK2 loss-of-function variants in humans
N Whiffin, IM Armean, A Kleinman, JL Marshall, EV Minikel, JK Goodrich, ...
Nature Medicine 26 (6), 869-877, 2020
1022020
A quantitative framework for characterizing the evolutionary history of mammalian gene expression
J Chen, R Swofford, J Johnson, BB Cummings, N Rogel, K Lindblad-Toh, ...
Genome research 29 (1), 53-63, 2019
1012019
Genetic regulatory variation in populations informs transcriptome analysis in rare disease
P Mohammadi, SE Castel, BB Cummings, J Einson, C Sousa, P Hoffman, ...
Science 366 (6463), 351-356, 2019
982019
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