Beryl Cummings
Beryl Cummings
Broad Institute
Adresse e-mail validée de broadinstitute.org
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Année
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
71502016
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204-213, 2017
14402017
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
6562019
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
6222020
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
3252017
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), 2017
3002017
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
2842017
Dynamic landscape and regulation of RNA editing in mammals
MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ...
Nature 550 (7675), 249-254, 2017
2342017
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
922017
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
782018
RNA seq analysis for the diagnosis of muscular dystrophy
H Gonorazky, M Liang, B Cummings, M Lek, J Micallef, C Hawkins, ...
Annals of clinical and translational neurology 3 (1), 55-60, 2016
612016
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
432018
Local genetic effects on gene expression across 44 human tissues
F Aguet, AA Brown, SE Castel, JR Davis, P Mohammadi, AV Segre, ...
BiorXiv, 074450, 2016
422016
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
MA Rivas, D Graham, P Sulem, C Stevens, AN Desch, P Goyette, ...
Nature communications 7 (1), 1-8, 2016
382016
Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis
F Yang, J Wang, BL Pierce, LS Chen, F Aguet, KG Ardlie, BB Cummings, ...
Genome research 27 (11), 1859-1871, 2017
362017
Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization
GL O’grady, HA Best, TE Sztal, V Schartner, M Sanjuan-Vazquez, ...
The American Journal of Human Genetics 99 (5), 1086-1105, 2016
312016
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
302019
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome
CM Carlston, AH O'Donnell‐Luria, HR Underhill, BB Cummings, ...
Human mutation 38 (5), 517-523, 2017
272017
Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons
H Tekin, S Simmons, B Cummings, L Gao, X Adiconis, CC Hession, ...
Nature biomedical engineering 2 (7), 540-554, 2018
262018
Signal processing challenges in quantitative 3-d cell morphology: More than meets the eye
AC Dufour, TY Liu, C Ducroz, R Tournemenne, B Cummings, R Thibeaux, ...
IEEE Signal Processing Magazine 32 (1), 30-40, 2014
252014
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