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Items: 17

1.

Cell-Type Heterogeneity in Adipose Tissue Is Associated with Complex Traits and Reveals Disease-Relevant Cell-Specific eQTLs.

Glastonbury CA, Couto Alves A, El-Sayed Moustafa JS, Small KS.

Am J Hum Genet. 2019 Jun 6;104(6):1013-1024. doi: 10.1016/j.ajhg.2019.03.025. Epub 2019 May 23.

2.

Epigenetic findings in periodontitis in UK twins: a cross-sectional study.

Kurushima Y, Tsai PC, Castillo-Fernandez J, Couto Alves A, El-Sayed Moustafa JS, Le Roy C, Spector TD, Ide M, Hughes FJ, Small KS, Steves CJ, Bell JT.

Clin Epigenetics. 2019 Feb 13;11(1):27. doi: 10.1186/s13148-019-0614-4.

3.

Fasting and time of day independently modulate circadian rhythm relevant gene expression in adipose and skin tissue.

Couto Alves A, Glastonbury CA, El-Sayed Moustafa JS, Small KS.

BMC Genomics. 2018 Sep 7;19(1):659. doi: 10.1186/s12864-018-4997-y.

4.

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Small KS, Todorčević M, Civelek M, El-Sayed Moustafa JS, Wang X, Simon MM, Fernandez-Tajes J, Mahajan A, Horikoshi M, Hugill A, Glastonbury CA, Quaye L, Neville MJ, Sethi S, Yon M, Pan C, Che N, Vinuela A, Tsai PC, Nag A, Buil A, Thorleifsson G, Raghavan A, Ding Q, Morris AP, Bell JT, Thorsteinsdottir U, Stefansson K, Laakso M, Dahlman I, Arner P, Gloyn AL, Musunuru K, Lusis AJ, Cox RD, Karpe F, McCarthy MI.

Nat Genet. 2018 Sep;50(9):1342. doi: 10.1038/s41588-018-0180-2.

PMID:
30087441
5.

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Small KS, Todorčević M, Civelek M, El-Sayed Moustafa JS, Wang X, Simon MM, Fernandez-Tajes J, Mahajan A, Horikoshi M, Hugill A, Glastonbury CA, Quaye L, Neville MJ, Sethi S, Yon M, Pan C, Che N, Viñuela A, Tsai PC, Nag A, Buil A, Thorleifsson G, Raghavan A, Ding Q, Morris AP, Bell JT, Thorsteinsdottir U, Stefansson K, Laakso M, Dahlman I, Arner P, Gloyn AL, Musunuru K, Lusis AJ, Cox RD, Karpe F, McCarthy MI.

Nat Genet. 2018 Apr;50(4):572-580. doi: 10.1038/s41588-018-0088-x. Epub 2018 Apr 9. Erratum in: Nat Genet. 2018 Sep;50(9):1342.

6.

Multiple rare genetic variants co-segregating with familial IgA nephropathy all act within a single immune-related network.

Cox SN, Pesce F, El-Sayed Moustafa JS, Sallustio F, Serino G, Kkoufou C, Giampetruzzi A, Ancona N, Falchi M, Schena FP; European IgAN Consortium.

J Intern Med. 2017 Feb;281(2):189-205. doi: 10.1111/joim.12565. Epub 2016 Oct 11.

7.

Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children.

Mejía-Benítez MA, Bonnefond A, Yengo L, Huyvaert M, Dechaume A, Peralta-Romero J, Klünder-Klünder M, García Mena J, El-Sayed Moustafa JS, Falchi M, Cruz M, Froguel P.

Diabetologia. 2015 Feb;58(2):290-4. doi: 10.1007/s00125-014-3441-3. Epub 2014 Nov 14.

PMID:
25394825
8.

Insights into the genetic susceptibility to type 2 diabetes from genome-wide association studies of glycaemic traits.

Marullo L, El-Sayed Moustafa JS, Prokopenko I.

Curr Diab Rep. 2014;14(11):551. doi: 10.1007/s11892-014-0551-8. Review.

9.

Low copy number of the salivary amylase gene predisposes to obesity.

Falchi M, El-Sayed Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, Sudmant PH, Dorajoo R, Al-Shafai MN, Bottolo L, Ozdemir E, So HC, Davies RW, Patrice A, Dent R, Mangino M, Hysi PG, Dechaume A, Huyvaert M, Skinner J, Pigeyre M, Caiazzo R, Raverdy V, Vaillant E, Field S, Balkau B, Marre M, Visvikis-Siest S, Weill J, Poulain-Godefroy O, Jacobson P, Sjostrom L, Hammond CJ, Deloukas P, Sham PC, McPherson R, Lee J, Tai ES, Sladek R, Carlsson LM, Walley A, Eichler EE, Pattou F, Spector TD, Froguel P.

Nat Genet. 2014 May;46(5):492-7. doi: 10.1038/ng.2939. Epub 2014 Mar 30.

10.

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.

Walters RG, Coin LJ, Ruokonen A, de Smith AJ, El-Sayed Moustafa JS, Jacquemont S, Elliott P, Esko T, Hartikainen AL, Laitinen J, Männik K, Martinet D, Meyre D, Nauck M, Schurmann C, Sladek R, Thorleifsson G, Thorsteinsdóttir U, Valsesia A, Waeber G, Zufferey F, Balkau B, Pattou F, Metspalu A, Völzke H, Vollenweider P, Stefansson K, Järvelin MR, Beckmann JS, Froguel P, Blakemore AI.

PLoS One. 2013;8(3):e58048. doi: 10.1371/journal.pone.0058048. Epub 2013 Mar 12.

11.

From obesity genetics to the future of personalized obesity therapy.

El-Sayed Moustafa JS, Froguel P.

Nat Rev Endocrinol. 2013 Jul;9(7):402-13. doi: 10.1038/nrendo.2013.57. Epub 2013 Mar 26. Review. Erratum in: Nat Rev Endocrinol. 2014 Jan;10(1):4.

PMID:
23529041
12.

What is the contribution of two genetic variants regulating VEGF levels to type 2 diabetes risk and to microvascular complications?

Bonnefond A, Saulnier PJ, Stathopoulou MG, Grarup N, Ndiaye NC, Roussel R, Nezhad MA, Dechaume A, Lantieri O, Hercberg S, Lauritzen T, Balkau B, El-Sayed Moustafa JS, Hansen T, Pedersen O, Froguel P, Charpentier G, Marre M, Hadjadj S, Visvikis-Siest S.

PLoS One. 2013;8(2):e55921. doi: 10.1371/journal.pone.0055921. Epub 2013 Feb 6.

13.

Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits.

Costelloe SJ, El-Sayed Moustafa JS, Drenos F, Palmen J, Li Q, Whiting S, Thomas M, Kivimaki M, Kumari M, Hingorani AD, Tzoulaki I, Järvelin MR, Ruokonen A, Hartikainen AL, Pouta A, Walters RG, Blakemore AI, Humphries SE, Coin LJ, Talmud PJ.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):555-60. doi: 10.1161/CIRCGENETICS.111.961037. Epub 2012 Sep 12. Erratum in: Circ Cardiovasc Genet. 2012 Dec;5(6):e59. Qiao, Li [corrected to Li, Qiao];Marjo-Riitta, Järvelin [corrected to Järvelin, Marjo-Riitta]; Aimo, Ruokonen [corrected to Ruokonen, Aimo].

PMID:
22972876
14.

Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.

El-Sayed Moustafa JS, Eleftherohorinou H, de Smith AJ, Andersson-Assarsson JC, Alves AC, Hadjigeorgiou E, Walters RG, Asher JE, Bottolo L, Buxton JL, Sladek R, Meyre D, Dina C, Visvikis-Siest S, Jacobson P, Sjöström L, Carlsson LM, Walley A, Falchi M, Froguel P, Blakemore AI, Coin LJ.

Hum Mol Genet. 2012 Aug 15;21(16):3727-38. doi: 10.1093/hmg/dds187. Epub 2012 May 16.

15.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.

Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.

16.

famCNV: copy number variant association for quantitative traits in families.

Eleftherohorinou H, Andersson-Assarsson JC, Walters RG, El-Sayed Moustafa JS, Coin L, Jacobson P, Carlsson LM, Blakemore AI, Froguel P, Walley AJ, Falchi M.

Bioinformatics. 2011 Jul 1;27(13):1873-5. doi: 10.1093/bioinformatics/btr264. Epub 2011 May 5.

17.

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS.

Nature. 2010 Feb 4;463(7281):671-5. doi: 10.1038/nature08727.

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