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1.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Annu Rev Genomics Hum Genet
; 24: 151-176, 2023 08 25.
Article
in English
| MEDLINE | ID: mdl-37285546
2.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med
; 388(17): 1559-1571, 2023 Apr 27.
Article
in English
| MEDLINE | ID: mdl-37043637
3.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37982373
4.
Prediction of photoperiodic regulators from quantitative gene circuit models.
Cell
; 139(6): 1170-9, 2009 Dec 11.
Article
in English
| MEDLINE | ID: mdl-20005809
5.
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Hum Mutat
; 43(6): 682-697, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35143074
6.
The plant-specific CDKB1-CYCB1 complex mediates homologous recombination repair in Arabidopsis.
EMBO J
; 35(19): 2068-2086, 2016 10 04.
Article
in English
| MEDLINE | ID: mdl-27497297
7.
Linked circadian outputs control elongation growth and flowering in response to photoperiod and temperature.
Mol Syst Biol
; 11(1): 776, 2015 Jan 19.
Article
in English
| MEDLINE | ID: mdl-25600997
8.
HIGH EXPRESSION OF OSMOTICALLY RESPONSIVE GENES1 is required for circadian periodicity through the promotion of nucleo-cytoplasmic mRNA export in Arabidopsis.
Plant Cell
; 25(11): 4391-404, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24254125
9.
Inference on periodicity of circadian time series.
Biostatistics
; 14(4): 792-806, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23743206
10.
Network balance via CRY signalling controls the Arabidopsis circadian clock over ambient temperatures.
Mol Syst Biol
; 9: 650, 2013.
Article
in English
| MEDLINE | ID: mdl-23511208
11.
Guidelines for releasing a variant effect predictor.
ArXiv
; 2024 Apr 16.
Article
in English
| MEDLINE | ID: mdl-38699161
12.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
medRxiv
; 2023 Apr 03.
Article
in English
| MEDLINE | ID: mdl-37066232
13.
Light receptor action is critical for maintaining plant biomass at warm ambient temperatures.
Plant J
; 65(3): 441-52, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-21265897
14.
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.
Eur J Hum Genet
; 32(5): 593-600, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38433264
15.
Paths through the phytochrome network.
Plant Cell Environ
; 31(5): 667-78, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18266901
16.
Registered access: authorizing data access.
Eur J Hum Genet
; 26(12): 1721-1731, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30069064
17.
Matchmaker Exchange.
Curr Protoc Hum Genet
; 95: 9.31.1-9.31.15, 2017 10 18.
Article
in English
| MEDLINE | ID: mdl-29044468
18.
Arabidopsis cell expansion is controlled by a photothermal switch.
Nat Commun
; 5: 4848, 2014 Sep 26.
Article
in English
| MEDLINE | ID: mdl-25258215
19.
Shedding light on flower development: phytochrome B regulates gynoecium formation in association with the transcription factor SPATULA.
Plant Signal Behav
; 6(4): 471-6, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21364315
20.
ATR and ATM play both distinct and additive roles in response to ionizing radiation.
Plant J
; 48(6): 947-61, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17227549