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cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs.
Published in:
Nature Methods, 2010, v. 7, n. 7, p. 541, doi. 10.1038/nmeth.1466
By:
- Coin, Lachlan J. M.;
- Asher, Julian E.;
- Walters, Robin G.;
- El-Sayed Moustafa, Julia S.;
- de Smith, Adam J.;
- Sladek, Rob;
- Balding, David J.;
- Froguel, Philippe;
- Blakemore, Alexandra I. F.
Publication type:
Article
Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058048
By:
- Walters, Robin G.;
- Coin, Lachlan J. M.;
- Ruokonen, Aimo;
- de Smith, Adam J.;
- El-Sayed Moustafa, Julia S.;
- Jacquemont, Sebastien;
- Elliott, Paul;
- Esko, Tõnu;
- Hartikainen, Anna-Liisa;
- Laitinen, Jaana;
- Männik, Katrin;
- Martinet, Danielle;
- Meyre, David;
- Nauck, Matthias;
- Schurmann, Claudia;
- Sladek, Rob;
- Thorleifsson, Gudmar;
- Thorsteinsdóttir, Unnur;
- Valsesia, Armand;
- Waeber, Gerard
Publication type:
Article
What Is the Contribution of Two Genetic Variants Regulating VEGF Levels to Type 2 Diabetes Risk and to Microvascular Complications?
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055921
By:
- Bonnefond, Amélie;
- Saulnier, Pierre-Jean;
- Stathopoulou, Maria G.;
- Grarup, Niels;
- Ndiaye, Ndeye Coumba;
- Roussel, Ronan;
- Nezhad, Mohsen Azimi;
- Dechaume, Aurélie;
- Lantieri, Olivier;
- Hercberg, Serge;
- Lauritzen, Torsten;
- Balkau, Beverley;
- El-Sayed Moustafa, Julia S.;
- Hansen, Torben;
- Pedersen, Oluf;
- Froguel, Philippe;
- Charpentier, Guillaume;
- Marre, Michel;
- Hadjadj, Samy;
- Visvikis-Siest, Sophie
Publication type:
Article
Probable delirium is a presenting symptom of COVID-19 in frail, older adults: a cohort study of 322 hospitalised and 535 community-based older adults.
Published in:
Age & Ageing, 2021, v. 50, n. 1, p. 40, doi. 10.1093/ageing/afaa223
By:
- Zazzara, Maria Beatrice;
- Penfold, Rose S;
- Roberts, Amy L;
- Lee, Karla A;
- Dooley, Hannah;
- Sudre, Carole H;
- Welch, Carly;
- Bowyer, Ruth C E;
- Visconti, Alessia;
- Mangino, Massimo;
- Freidin, Maxim B;
- Moustafa, Julia S El-Sayed;
- Small, Kerrin S;
- Murray, Benjamin;
- Modat, Marc;
- Graham, Mark S;
- Wolf, Jonathan;
- Ourselin, Sebastien;
- Martin, Finbarr C;
- Steves, Claire J
Publication type:
Article
Accurate Single-Nucleotide Polymorphism Allele Assignment in Trisomic or Duplicated Regions by Using a Single Base--Extension Assay with MALDI-TOF Mass Spectrometry.
Published in:
Clinical Chemistry, 2011, v. 57, n. 8, p. 1188, doi. 10.1373/clinchem.2010.159558
By:
- Trewick, Anne L.;
- Moustafa, Julia S. El-Sayed;
- de Smith, Adam J.;
- Froguel, Philippe;
- Greve, Gottfried;
- Njølstad, Pål R.;
- Coin, Lachlan J. M.;
- Blakemore, Alexandra I. F.
Publication type:
Article
X chromosome dosage of histone demethylase KDM5C determines sex differences in adiposity.
Published in:
2020
By:
- Link, Jenny C.;
- Wiese, Carrie B.;
- Xuqi Chen;
- Avetisyan, Rozeta;
- Feiyang Ma;
- Xiuqing Guo;
- Jie Yao;
- Allison, Matthew;
- Yii-Der Ida Chen;
- Rotter, Jerome I.;
- El-Sayed Moustafa, Julia S.;
- Small, Kerrin S.;
- Iwase, Shigeki;
- Pellegrini, Matteo;
- Vergnes, Laurent;
- Arnold, Arthur P.;
- Reue, Karen;
- Chen, Xuqi;
- Ronquillo, Emilio;
- Ma, Feiyang
Publication type:
journal article
Age acquired skewed X chromosome inactivation is associated with adverse health outcomes in humans.
Published in:
eLife, 2022, p. 1, doi. 10.7554/eLife.78263
By:
- Roberts, Amy L.;
- Morea, Alessandro;
- Amar, Ariella;
- Zito, Antonino;
- El-Sayed Moustafa, Julia S.;
- Tomlinson, Max;
- Bowyer, Ruth C. E.;
- Xinyuan Zhang;
- Christiansen, Colette;
- Costeira, Ricardo;
- Steves, Claire J.;
- Mangino, Massimo;
- Bell, Jordana T.;
- Wong, Chloe CY;
- Vyse, Timothy J.;
- Small, Kerrin S.
Publication type:
Article
Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 16, p. 3727, doi. 10.1093/hmg/dds187
By:
- El-Sayed Moustafa, Julia S.;
- Eleftherohorinou, Hariklia;
- de Smith, Adam J.;
- Andersson-Assarsson, Johanna C.;
- Couto Alves, Alexessander;
- Hadjigeorgiou, Eleni;
- Walters, Robin G.;
- Asher, Julian E.;
- Bottolo, Leonardo;
- Buxton, Jessica L.;
- Sladek, Rob;
- Meyre, David;
- Dina, Christian;
- Visvikis-Siest, Sophie;
- Jacobson, Peter;
- Sjöström, Lars;
- Carlsson, Lena M.S.;
- Walley, Andrew;
- Falchi, Mario;
- Froguel, Philippe
Publication type:
Article
Fasting and time of day independently modulate circadian rhythm relevant gene expression in adipose and skin tissue.
Published in:
BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4997-y
By:
- Couto Alves, Alexessander;
- Glastonbury, Craig A.;
- El-Sayed Moustafa, Julia S.;
- Small, Kerrin S.
Publication type:
Article
Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable.
Published in:
PLoS Genetics, 2023, v. 18, n. 2, p. 1, doi. 10.1371/journal.pgen.1010556
By:
- Zito, Antonino;
- Roberts, Amy L.;
- Visconti, Alessia;
- Rossi, Niccolo';
- Andres-Ejarque, Rosa;
- Nardone, Stefano;
- El-Sayed Moustafa, Julia S.;
- Falchi, Mario;
- Small, Kerrin S.
Publication type:
Article
famCNV: copy number variant association for quantitative traits in families.
Published in:
Bioinformatics, 2011, v. 27, n. 13, p. 1873, doi. 10.1093/bioinformatics/btr264
By:
- Eleftherohorinou, Hariklia;
- Andersson-Assarsson, Johanna C.;
- Walters, Robin G.;
- El-Sayed Moustafa, Julia S.;
- Coin, Lachlan;
- Jacobson, Peter;
- Carlsson, Lena M. S.;
- Blakemore, Alexandra I. F.;
- Froguel, Philippe;
- Walley, Andrew J.;
- Falchi, Mario
Publication type:
Article

Found: 11