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Nicola Whiffin
Nicola Whiffin
在 well.ox.ac.uk 的电子邮件经过验证 - 首页
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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
73312020
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
11702019
Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial
BP Halliday, R Wassall, AS Lota, Z Khalique, J Gregson, S Newsome, ...
The Lancet 393 (10166), 61-73, 2019
5582019
Using high-resolution variant frequencies to empower clinical genome interpretation
N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, AY Ing, ...
Genetics in Medicine 19 (10), 1151-1158, 2017
4272017
Evaluating the clinical validity of hypertrophic cardiomyopathy genes
J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ...
Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019
3392019
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy …
MA Kelly, C Caleshu, A Morales, J Buchan, Z Wolf, SM Harrison, S Cook, ...
Genetics in Medicine 20 (3), 351-359, 2018
3332018
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
MG Dunlop, SE Dobbins, SM Farrington, AM Jones, C Palles, N Whiffin, ...
Nature genetics 44 (7), 770-776, 2012
2822012
Genetic variants associated with cancer therapy–induced cardiomyopathy
P Garcia-Pavia, Y Kim, MA Restrepo-Cordoba, IG Lunde, H Wakimoto, ...
Circulation 140 (1), 31-41, 2019
2502019
Genetic etiology for alcohol-induced cardiac toxicity
JS Ware, A Amor-Salamanca, U Tayal, R Govind, I Serrano, ...
Journal of the American College of Cardiology 71 (20), 2293-2302, 2018
2432018
Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci
R Jäger, G Migliorini, M Henrion, R Kandaswamy, HE Speedy, A Heindl, ...
Nature communications 6 (1), 6178, 2015
2422015
Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer
IPM Tomlinson, LG Carvajal-Carmona, SE Dobbins, A Tenesa, AM Jones, ...
PLoS genetics 7 (6), e1002105, 2011
2392011
Reevaluating the genetic contribution of monogenic dilated cardiomyopathy
F Mazzarotto, U Tayal, RJ Buchan, W Midwinter, A Wilk, N Whiffin, ...
Circulation 141 (5), 387-398, 2020
1882020
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
R Tadros, C Francis, X Xu, AMC Vermeer, AR Harper, R Huurman, ...
Nature genetics 53 (2), 128-134, 2021
1842021
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis
N Whiffin, FJ Hosking, SM Farrington, C Palles, SE Dobbins, L Zgaga, ...
Human molecular genetics 23 (17), 4729-4737, 2014
1662014
Putative cis-regulatory drivers in colorectal cancer
H Ongen, CL Andersen, JB Bramsen, B Oster, MH Rasmussen, ...
Nature 512 (7512), 87-90, 2014
1602014
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
1432020
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
NA Al-Tassan, N Whiffin, FJ Hosking, C Palles, SM Farrington, ...
Scientific reports 5 (1), 10442, 2015
1412015
Characterising the loss-of-function impact of 5’untranslated region variants in 15,708 individuals
N Whiffin, KJ Karczewski, X Zhang, S Chothani, MJ Smith, DG Evans, ...
Nature communications 11 (1), 2523, 2020
1292020
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
119
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
R Walsh, F Mazzarotto, N Whiffin, R Buchan, W Midwinter, A Wilk, N Li, ...
Genome medicine 11, 1-18, 2019
1182019
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