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Nicola Whiffin
Nicola Whiffin
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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
72392020
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
11632019
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
5532019
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
4222017
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
3342019
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
3322018
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
2462019
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
2412018
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
2412015
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
2402011
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
1832020
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
1782021
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
1642014
Putative cis-regulatory drivers in colorectal cancer
H Ongen, CL Andersen, JB Bramsen, B Oster, MH Rasmussen, ...
Nature 512 (7512), 87-90, 2014
1592014
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
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
1382020
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
1312020
Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis
Interleukin 1 Genetics Consortium
The Lancet Diabetes & Endocrinology 3 (4), 243-253, 2015
1192015
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
1162019
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Artikelen 1–20