Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

86 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A high-resolution map of human RNA translation.
Chothani SP, Adami E, Widjaja AA, Langley SR, Viswanathan S, Pua CJ, Zhihao NT, Harmston N, D'Agostino G, Whiffin N, Mao W, Ouyang JF, Lim WW, Lim S, Lee CQE, Grubman A, Chen J, Kovalik JP, Tryggvason K, Polo JM, Ho L, Cook SA, Rackham OJL, Schafer S. Chothani SP, et al. Among authors: whiffin n. Mol Cell. 2022 Aug 4;82(15):2885-2899.e8. doi: 10.1016/j.molcel.2022.06.023. Epub 2022 Jul 15. Mol Cell. 2022. PMID: 35841888 Free article.
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, Chow K, Buchan R, Soh BY, Lio PM, Lim J, Schafer S, Lim JQ, Tan P, Whiffin N, Barton PJ, Ware JS, Cook SA. Pua CJ, et al. Among authors: whiffin n. J Cardiovasc Transl Res. 2016 Feb;9(1):3-11. doi: 10.1007/s12265-016-9673-5. Epub 2016 Feb 17. J Cardiovasc Transl Res. 2016. PMID: 26888179 Free PMC article.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Whiffin N, et al. Am J Hum Genet. 2019 Jan 3;104(1):187-190. doi: 10.1016/j.ajhg.2018.11.012. Am J Hum Genet. 2019. PMID: 30609406 Free PMC article. No abstract available.
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. Whiffin N, et al. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Nat Commun. 2020. PMID: 32461616 Free PMC article.
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Pua CJ, Tham N, Chin CWL, Walsh R, Khor CC, Toepfer CN, Repetti GG, Garfinkel AC, Ewoldt JF, Cloonan P, Chen CS, Lim SQ, Cai J, Loo LY, Kong SC, Chiang CWK, Whiffin N, de Marvao A, Lio PM, Hii AA, Yang CX, Le TT, Bylstra Y, Lim WK, Teo JX, Padilha K, Silva GV, Pan B, Govind R, Buchan RJ, Barton PJR, Tan P, Foo R, Yip JWL, Wong RCC, Chan WX, Pereira AC, Tang HC, Jamuar SS, Ware JS, Seidman JG, Seidman CE, Cook SA. Pua CJ, et al. Among authors: whiffin n. Circ Genom Precis Med. 2020 Oct;13(5):424-434. doi: 10.1161/CIRCGEN.119.002823. Epub 2020 Aug 20. Circ Genom Precis Med. 2020. PMID: 32815737 Free PMC article.
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis PI, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies JL, Semsarian C, Ingles J, O'Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS. Zhang X, et al. Among authors: whiffin n. Genet Med. 2021 Jan;23(1):69-79. doi: 10.1038/s41436-020-00972-3. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046849 Free PMC article.
Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. Whiffin N, et al. Nat Commun. 2021 Feb 2;12(1):839. doi: 10.1038/s41467-021-21052-3. Nat Commun. 2021. PMID: 33531501 Free PMC article. No abstract available.
LINC01013 Is a Determinant of Fibroblast Activation and Encodes a Novel Fibroblast-Activating Micropeptide.
Quaife NM, Chothani S, Schulz JF, Lindberg EL, Vanezis K, Adami E, O'Fee K, Greiner J, Litviňuková M, van Heesch S, Whiffin N, Hubner N, Schafer S, Rackham O, Cook SA, Barton PJR. Quaife NM, et al. Among authors: whiffin n. J Cardiovasc Transl Res. 2023 Feb;16(1):77-85. doi: 10.1007/s12265-022-10288-z. Epub 2022 Jun 27. J Cardiovasc Transl Res. 2023. PMID: 35759180 Free PMC article.
Correction to: LINC01013 Is a Determinant of Fibroblast Activation and Encodes a Novel Fibroblast-Activating Micropeptide.
Quaife NM, Chothani S, Schulz JF, Lindberg EL, Vanezis K, Adami E, O'Fee K, Greiner J, Litviňuková M, van Heesch S, Whiffin N, Hubner N, Schafer S, Rackham O, Cook SA, Barton PJR. Quaife NM, et al. Among authors: whiffin n. J Cardiovasc Transl Res. 2023 Feb;16(1):86. doi: 10.1007/s12265-022-10291-4. J Cardiovasc Transl Res. 2023. PMID: 35834119 Free PMC article. No abstract available.
86 results