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Page 1
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Martin EMMA, et al. Among authors: humphreys dt. Hum Mol Genet. 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. Hum Mol Genet. 2020. PMID: 33276377 Free PMC article.
Male-lineage transmission of an acquired metabolic phenotype induced by grand-paternal obesity.
Cropley JE, Eaton SA, Aiken A, Young PE, Giannoulatou E, Ho JWK, Buckland ME, Keam SP, Hutvagner G, Humphreys DT, Langley KG, Henstridge DC, Martin DIK, Febbraio MA, Suter CM. Cropley JE, et al. Among authors: humphreys dt. Mol Metab. 2016 Jun 23;5(8):699-708. doi: 10.1016/j.molmet.2016.06.008. eCollection 2016 Aug. Mol Metab. 2016. PMID: 27656407 Free PMC article.
Decoding the complex genetic causes of heart diseases using systems biology.
Djordjevic D, Deshpande V, Szczesnik T, Yang A, Humphreys DT, Giannoulatou E, Ho JWK. Djordjevic D, et al. Among authors: humphreys dt. Biophys Rev. 2015 Mar;7(1):141-159. doi: 10.1007/s12551-014-0145-3. Epub 2014 Dec 10. Biophys Rev. 2015. PMID: 28509974 Free PMC article.
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL. Shi H, et al. Among authors: humphreys dt. N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. N Engl J Med. 2017. PMID: 28792876 Free article.
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Szot JO, Cuny H, Blue GM, Humphreys DT, Ip E, Harrison K, Sholler GF, Giannoulatou E, Leo P, Duncan EL, Sparrow DB, Ho JWK, Graham RM, Pachter N, Chapman G, Winlaw DS, Dunwoodie SL. Szot JO, et al. Among authors: humphreys dt. Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978. Circ Genom Precis Med. 2018. PMID: 29555671
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D, Ip E, Szot JO, Munro J, Blue GM, Harrison K, Cuny H, Enriquez A, Troup M, Humphreys DT, Wilson M, Harvey RP, Sholler GF, Graham RM, Ho JWK, Kirk EP, Pachter N, Chapman G, Winlaw DS, Giannoulatou E, Dunwoodie SL. Alankarage D, et al. Among authors: humphreys dt. Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293987 Free article.
Hif-1a suppresses ROS-induced proliferation of cardiac fibroblasts following myocardial infarction.
Janbandhu V, Tallapragada V, Patrick R, Li Y, Abeygunawardena D, Humphreys DT, Martin EMMA, Ward AO, Contreras O, Farbehi N, Yao E, Du J, Dunwoodie SL, Bursac N, Harvey RP. Janbandhu V, et al. Among authors: humphreys dt. Cell Stem Cell. 2022 Feb 3;29(2):281-297.e12. doi: 10.1016/j.stem.2021.10.009. Epub 2021 Nov 10. Cell Stem Cell. 2022. PMID: 34762860 Free PMC article.
CHDgene: A Curated Database for Congenital Heart Disease Genes.
Yang A, Alankarage D, Cuny H, Ip EKK, Almog M, Lu J, Das D, Enriquez A, Szot JO, Humphreys DT, Blue GM, Ho JWK, Winlaw DS, Dunwoodie SL, Giannoulatou E. Yang A, et al. Among authors: humphreys dt. Circ Genom Precis Med. 2022 Jun;15(3):e003539. doi: 10.1161/CIRCGEN.121.003539. Epub 2022 May 6. Circ Genom Precis Med. 2022. PMID: 35522174 No abstract available.
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing.
Tarr I, Hesselson S, Iismaa SE, Rath E, Monger S, Troup M, Mishra K, Wong CMY, Hsu PC, Junday K, Humphreys DT, Adlam D, Webb TR, Baranowska-Clarke AA, Hamby SE, Carss KJ, Samani NJ, Bax M, McGrath-Cadell L, Kovacic JC, Dunwoodie SL, Fatkin D, Muller DWM, Graham RM, Giannoulatou E. Tarr I, et al. Among authors: humphreys dt. Circ Genom Precis Med. 2022 Aug;15(4):e003527. doi: 10.1161/CIRCGEN.121.003527. Epub 2022 May 18. Circ Genom Precis Med. 2022. PMID: 35583931 Free PMC article.
52 results