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Page 1
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. Walters RG, et al. Among authors: falchi m. Nature. 2010 Feb 4;463(7281):671-5. doi: 10.1038/nature08727. Nature. 2010. PMID: 20130649 Free PMC article.
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. Eleftherohorinou H, et al. Among authors: falchi m. Bioinformatics. 2011 Jul 1;27(13):1873-5. doi: 10.1093/bioinformatics/btr264. Epub 2011 May 5. Bioinformatics. 2011. PMID: 21546396 Free PMC article.
AVAILABILITY AND IMPLEMENTATION: The Java package is made available at www.imperial.ac.uk/medicine/people/m.falchi/. CONTACT: m.falchi@imperial.ac.uk....
AVAILABILITY AND IMPLEMENTATION: The Java package is made available at www.imperial.ac.uk/medicine/people/m.falchi/. CONTACT: …
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. El-Sayed Moustafa JS, et al. Among authors: falchi m. Hum Mol Genet. 2012 Aug 15;21(16):3727-38. doi: 10.1093/hmg/dds187. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595969 Free PMC article.
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. Falchi M, et al. Nat Genet. 2014 May;46(5):492-7. doi: 10.1038/ng.2939. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686848 Free PMC article.
Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients.
Sallustio F, Cox SN, Serino G, Curci C, Pesce F, De Palma G, Papagianni A, Kirmizis D, Falchi M, Schena FP; European IgAN Consortium. Sallustio F, et al. Among authors: falchi m. Eur J Hum Genet. 2015 Jul;23(7):940-8. doi: 10.1038/ejhg.2014.208. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293716 Free PMC article.
IgA1 Glycosylation Is Heritable in Healthy Twins.
Lomax-Browne HJ, Visconti A, Pusey CD, Cook HT, Spector TD, Pickering MC, Falchi M. Lomax-Browne HJ, et al. Among authors: falchi m. J Am Soc Nephrol. 2017 Jan;28(1):64-68. doi: 10.1681/ASN.2016020184. Epub 2016 Jun 16. J Am Soc Nephrol. 2017. PMID: 27313232 Free PMC article.
Real-time tracking of self-reported symptoms to predict potential COVID-19.
Menni C, Valdes AM, Freidin MB, Sudre CH, Nguyen LH, Drew DA, Ganesh S, Varsavsky T, Cardoso MJ, El-Sayed Moustafa JS, Visconti A, Hysi P, Bowyer RCE, Mangino M, Falchi M, Wolf J, Ourselin S, Chan AT, Steves CJ, Spector TD. Menni C, et al. Among authors: falchi m. Nat Med. 2020 Jul;26(7):1037-1040. doi: 10.1038/s41591-020-0916-2. Epub 2020 May 11. Nat Med. 2020. PMID: 32393804 Free PMC article.
312 results