Full title: A large-scale transcriptome-wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine-mapping
Author(s): Tapia AL; Choquet H; Raffield LM; et al.
Genet Epidemiol. 2021 Nov 15.
PubMed abstractWhole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program
Author(s): Mikhaylova AV; Choquet H; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Auer PL; et al.
Am J Hum Genet. 2021 Sep 23.
PubMed abstractWhole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative
Author(s): Little A; Choquet H; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Raffield LM; et al.
Hum Mol Genet. 2021 Sep 06.
PubMed abstractGLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans
Author(s): Nair KS; Choquet H; Jetten AM; et al.
Nat Commun. 2021 08 12;12(1):4877. Epub 2021-08-12.
PubMed abstractNew and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis
Author(s): Choquet H; Yin J; Jacobson AS; Horton BH; Hoffmann TJ; Jorgenson E; Avins AL; Pressman AR
Commun Biol. 2021 Jul 22;4(1):864. Epub 2021-07-22.
PubMed abstractTranscriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations
Author(s): Wen J; Choquet H; Li Y; et al.
Genes (Basel). 2021 Jul 08;12(7). Epub 2021-07-08.
PubMed abstractA large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
Author(s): Choquet H; 23andMe Research Team; Jorgenson E; et al.
Nat Commun. 2021 06 14;12(1):3595. Epub 2021-06-14.
PubMed abstractGenetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
Author(s): Currant H; UK Biobank Eye and Vision Consortium; International Glaucoma Genetics Consortium; Choquet H; Khawaja AP; et al.
PLoS Genet. 2021 May;17(5):e1009497. Epub 2021-05-12.
PubMed abstractWhole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
Author(s): Hu Y; Choquet H; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; et al.
Am J Hum Genet. 2021 Apr 16.
PubMed abstractA multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
Author(s): Hardcastle AJ; Choquet H; Jorgenson E; Hysi PG; et al.
Commun Biol. 2021 Mar 01;4(1):266. Epub 2021-03-01.
PubMed abstractGenome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Author(s): Gharahkhani P; Jorgenson E; Choquet H; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Wiggs JL; et al.
Nat Commun. 2021 02 24;12(1):1258. Epub 2021-02-24.
PubMed abstractCigarette smoking behaviors and the importance of ethnicity and genetic ancestry
Author(s): Choquet H; Yin J; Jorgenson E
Transl Psychiatry. 2021 Feb 11;11(1):120. Epub 2021-02-11.
PubMed abstractGenetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations
Author(s): Jorgenson E; Choquet H; Yin J; Hoffmann TJ; Banda Y; Kvale MN; Risch N; Schaefer C; Asgari MM
Commun Biol. 2020 Dec 14;3(1):765. Epub 2020-12-14.
PubMed abstractThe Polygenic and Monogenic Basis of Blood Traits and Diseases
Author(s): Vuckovic D; Choquet H; Jorgenson E; VA Million Veteran Program; Soranzo N; et al.
Cell. 2020 Sep 03;182(5):1214-1231.e11.
PubMed abstractTrans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Author(s): Chen MH; Choquet H; Jorgenson E; VA Million Veteran Program; Lettre G; et al.
Cell. 2020 Sep 03;182(5):1198-1213.e14.
PubMed abstractMeta-analysis of 26,638 Individuals Identifies Two Genetic Loci Associated with Left Ventricular Ejection Fraction
Author(s): Choquet H; Thai KK; Jiang C; Ranatunga DK; Hoffmann TJ; Go AS; Lindsay AC; Ehm MG; Waterworth DM; Risch N; Schaefer C
Circ Genom Precis Med. 2020 Jun 30.
PubMed abstractGenome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity
Author(s): Choquet H; Kim H
Methods Mol Biol. 2020;2152:77-84.
PubMed abstractA multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness
Author(s): Choquet H; Schaefer C; Jorgenson E; et al.
Commun Biol. 2020 Jun 11;3(1):301. Epub 2020-06-11.
PubMed abstractGenetic and environmental factors underlying keratinocyte carcinoma risk
Author(s): Choquet H; Ashrafzadeh S; Kim Y; Asgari MM; Jorgenson E
JCI Insight. 2020 May 21;5(10). Epub 2020-05-21.
PubMed abstractMeta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
Author(s): Hysi PG†; Choquet H†; Consortium for Refractive Error and Myopia; UK Eye and Vision Consortium; 23andMe Inc.; Jorgenson E; Hammond CJ; et al.
† These authors jointly led this work.Nat Genet. 2020 Apr;52(4):401-407. Epub 2020-03-30.
PubMed abstractFunctional validity, role, and implications of heavy alcohol consumption genetic loci
Author(s): Thompson A; Cook J; Choquet H; Jorgenson E; Yin J; Kinnunen T; Barclay J; Morris AP; Pirmohamed M
Sci Adv. 2020 Jan;6(3):eaay5034. Epub 2020-01-15.
PubMed abstractUse of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations
Author(s): Kowalski MH; Choquet H; Jorgenson E; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology & Hemostasis Working Group; Li Y; et al.
PLoS Genet. 2019 Dec 23;15(12):e1008500. Epub 2019-12-23.
PubMed abstractContribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications
Author(s): Meyre D; Choquet H; Linton KJ; et al.
Sci Rep. 2019 Nov 20;9(1):17123. Epub 2019-11-20.
PubMed abstractClinical implications of recent advances in primary open-angle glaucoma genetics
Author(s): Choquet H; Wiggs JL; Khawaja AP
Eye (Lond). 2019 Oct 23.
PubMed abstractAssociation studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.
Author(s): Liu M; 23andMe Research Team; HUNT All-In Psychiatry; Choquet H; Zhao W; Thai KK; Weisner C; Yin J; Jorgenson E; Vrieze S; et al.
Nature genetics. 2019 Feb ;51(2):237-244. Epub 2019-01-14.
PubMed abstractA Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci
Author(s): Hoffmann TJ; Choquet H; Yin J; Banda Y; Kvale MN; Glymour M; Schaefer C; Risch N; Jorgenson E
Genetics. 2018 Aug 14.
PubMed abstractA multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci
Author(s): Choquet H; Thai KK; Hoffmann TJ; Yin J; Schaefer C; Risch N; Jorgenson E; et al.
Nat Commun. 2018 Jun 11;9(1):2278. Epub 2018-06-11.
PubMed abstractCommon mitochondrial haplogroups and cutaneous squamous cell carcinoma risk
Author(s): Jorgenson E; Choquet H; Yin J; Asgari M
Cancer Epidemiol Biomarkers Prev. 2018 Apr 25.
PubMed abstractA large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure
Author(s): Choquet H; Thai KK; Yin J; Hoffmann TJ; Kvale MN; Banda Y; Schaefer C; Risch N; Nair KS; Melles R; Jorgenson E
Nat Commun. 2017 Dec 13;8(1):2108. Epub 2017-12-13.
PubMed abstractGenetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study
Author(s): Jorgenson, E E; Thai, K K KK; Hoffmann, T J TJ; Sakoda, L C LC; Kvale, M N MN; Banda, Y Y; Schaefer, C C; Risch, N N; Mertens, J J; Weisner, C C; Choquet, H H
Molecular psychiatry. 2017 Sep ;22(9):1359-1367. Epub 2017-05-09.
PubMed abstractCytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1
Author(s): Choquet H; Trapani E; Goitre L; Trabalzini L; Akers A; Fontanella M; Hart BL; Morrison LA; Pawlikowska L; Kim H; Retta SF
Free Radic Biol Med. 2016 Mar;92:100-9. doi: 10.1016/j.freeradbiomed.2016.01.008. Epub 2016 Jan 19.
PubMed abstractGenetics of cerebral cavernous malformations: current status and future prospects
Author(s): Choquet H; Pawlikowska L; Lawton MT; Kim H.
J Neurosurg Sci. 2015 Sep;59(3):211-20. Epub 2015 Apr 22.
PubMed abstractAssociation of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation
Author(s): Choquet H; Nelson J; Pawlikowska L; McCulloch CE; Akers A; Baca B; Khan Y; Hart B; Morrison L; Kim H.
Cerebrovasc Dis. 2014;37(1):57-63. doi: 10.1159/000356839. Epub 2013 Dec 21.
PubMed abstractPolymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity
Author(s): Choquet H; Pawlikowska L; Nelson J; McCulloch CE; Akers A; Baca B; Khan Y; Hart B; Morrison L; Kim H; Brain Vascular Malformation Consortium (BVMC) Study
Cerebrovasc Dis. 2014;38(6):433-40. doi: 10.1159/000369200. Epub 2014 Dec 3.
PubMed abstractExamination of rare missense variants in the CHRNA5-A3-B4 gene cluster to level of response to alcohol in the San Diego Sibling Pair study
Author(s): Choquet H; Joslyn G; Lee A; Kasberger J; Robertson M; Brush G; Schuckit MA; White R; Jorgenson E
Alcohol Clin Exp Res. 2013 Aug;37(8):1311-6. doi: 10.1111/acer.12099. Epub 2013 Mar 4.
PubMed abstractGenetic analysis of a population heavy drinking phenotype identifies risk variants in whites
Author(s): Hamidovic A; Goodloe RJ; Young TR; Styn MA; Mukamal KJ; Choquet H; Kasberger JL; Buxbaum SG; Papanicolaou GJ; White W; Volcik K; Spring B; Hitsman B; Levy D; Jorgenson E.;
J Clin Psychopharmacol. 2013 Apr;33(2):206-10. doi: 10.1097/JCP.0b013e318287009a.
PubMed abstractContribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population
Author(s): Choquet H; Kasberger J; Hamidovic A; Jorgenson E
PLoS One. 2013;8(2):e57857. doi: 10.1371/journal.pone.0057857. Epub 2013 Feb 25.
PubMed abstractGene-centric analysis of serum cotinine levels in African and European American populations
Author(s): Hamidovic A; Goodloe RJ; Bergen AW; Benowitz NL; Styn MA; Kasberger JL; Choquet H; Young TR; Meng Y; Palmer C; Pletcher M; Kertesz S; Hitsman B; Spring B; Jorgenson E
Neuropsychopharmacology. 2012 Mar;37(4):968-74. doi: 10.1038/npp.2011.280. Epub 2011 Nov 16.
PubMed abstractDysfunction of lipid sensor GPR120 leads to obesity in both mouse and human
Author(s): Ichimura A; Hirasawa A; Poulain-Godefroy O; Bonnefond A; Hara T; Yengo L; Kimura I; Leloire A; Liu N; Iida K; Choquet H; Besnard P; Lecoeur C; Vivequin S; Ayukawa K; Takeuchi M; Ozawa K; Tauber M; Maffeis C; Morandi A; Buzzetti R; Elliott P; Pouta A; Jarvelin MR; Körner A; Kiess W; Pigeyre M; Caiazzo R; Van Hul W; Van Gaal L; Horber F; Balkau B; Lévy-Marchal C; Rouskas K; Kouvatsi A; Hebebrand J; Hinney A; Scherag A; Pattou F; Meyre D; Koshimizu TA; Wolowczuk I; Tsujimoto G; Froguel P
Nature. 2012 Feb 19;483(7389):350-4. doi: 10.1038/nature10798.
PubMed abstractHeterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity
Author(s): Creemers JW; Choquet H; Stijnen P; Vatin V; Pigeyre M; Beckers S; Meulemans S; Than ME; Yengo L; Tauber M; Balkau B; Elliott P; Jarvelin MR; Van Hul W; Van Gaal L; Horber F; Pattou F; Froguel P; Meyre D
Diabetes. 2012 Feb;61(2):383-90. doi: 10.2337/db11-0305. Epub 2011 Dec 30.
PubMed abstract