MARONGIU, MARA
MARONGIU, MARA
Istituto di Ricerca Genetica e Biomedica - IRGB - Sede Secondaria Lanusei (OG)
Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset
2024 Forabosco, P.; Pala, M.; Crobu, F.; Diana, M. A.; Marongiu, M.; Cusano, R.; Angius, A.; Steri, M.; Orru, V.; Schlessinger, D.; Fiorillo, E.; Devoto, M.; Cucca, F.
Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency
2022 Marongiu, Mara; Crisponi, Laura; Uda, Manuela; Pelosi, Emanuele
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
2020 Orrù, V; Steri, M; Sidore, C; Marongiu, M; Serra, V; Olla, S; Sole, G; Lai, S; Dei, M; Mulas, A; Virdis, F; Piras, Mg; Lobina, M; Marongiu, M; Pitzalis, M; Deidda, F; Loizedda, A; Onano, S; Zoledziewska, M; Sawcer, S; Devoto, M; Gorospe, M; Abecasis, Gr; Floris, M; Pala, M; Schlessinger, D; Fiorillo, E; Cucca, F
Dissection of the BAFF pathway in Multiple Sclerosis with a view toward more specific and effective therapies
2019 Olla, S; Idda, Ml; Deiana, M; Delogu, G; Lodde, V; Steri, M; Orrù, V; Floris, M; Pitzalis, M Pala M; Sidore, C; Mulas, A; Piras, Mg; Lobina, M; Lai, S; Marongiu, Mara; Serra, V; Marongiu, Michele; Sole, G; Busonero, F; Maschio, A; Dei, M; Deidda, F; Poddie, F; Farina, G; Frau, J; Costa, G; Coghe, G; Lorefice, L; Fenu, G; Marrosu, Mg; Cocco, E; Fiorillo, E; Zoledziewska, M; Cucca, F
Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026))
2018 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M.E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Overexpression of the Cytokine BAFF and Autoimmunity Risk
2017 Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, Valeria; Floris, M.; Deiana, Manila.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, Maria Grazia; Lobina, Monia; Lai, Sandra; Marongiu, Mara.; Serra, Valentina; Marongiu, Michele.; Sole, Gabriella.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, Maria A.; Pani, Mario; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; Castillo-Palma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, Antonello; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, Alessandra; Sanna, Serena; Gorospe, M.; Schlessinger, D.; Fiorillo, Edoardo; Zoledziewska, M.; Cucca, F.
Population- and individual-specific regulatory variation in Sardinia.
2017 Pala, Mauro; Zappala, Zachary; Marongiu, Mara; Li, Xin; Davis Joe, R; Cusano, Roberto; Crobu, Francesca; Kukurba Kimberly, R; Gloudemans Michael, J; Reinier, Frederic; Berutti, Riccardo; Piras Maria, G; Mulas, Antonella; Zoledziewska, Magdalena; Marongiu, Michele; Sorokin Elena, P; Hess Gaelen, T; Smith Kevin, S; Busonero, Fabio; Maschio, Andrea; Steri, Maristella; Sidore, Carlo; Sanna, Serena; Fiorillo, Edoardo; Bassik Michael, C; Sawcer Stephen, J; Battle, Alexis; Novembre, John; Jones, Chris; Angius, Andrea; Abecasis Goncalo, R; Schlessinger, David; Cucca, Francesco; Montgomery Stephen, B
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
2016 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation
2016 Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
2015 Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura
A large-scale transcriptome study in the Sardinian population
2014 Pala, Mauro; Marongiu, Mara; Zappala, Z; Mulas, Antonella; Cusano, Roberto; Crobu, Francesca; Reinier, Frederic; Berutti, Riccardo; Piras, Mg; S Jones, Christopher M; Schlessinger, David; R Abecasis, Gonçalo; Angius, Andrea; Sanna, Serena; Cucca, Francesco; Montgomery, Stephen
An integrated framework for evaluating the pathogenicity of rare, population-specific non-coding variation.
2014 Zappala, Z; Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Jones, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; Cucca, F; B Montgomery, S
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty
2014 Cousminer, D. L.; Stergiakouli, E.; Berry, D. J.; Ang, W.; Groen-Blokhuis, M. M.; Korner, A.; Siitonen, N.; Ntalla, I.; Marinelli, M.; Perry, J. R. B.; Kettunen, J.; Jansen, R.; Surakka, I.; Timpson, N. J.; Ring, S.; Mcmahon, G.; Power, C.; Wang, C.; Kahonen, M.; Viikari, J.; Lehtimaki, T.; Middeldorp, C. M.; Hulshoff Pol, H. E.; Neef, M.; Weise, S.; Pahkala, K.; Niinikoski, H.; Zeggini, E.; Panoutsopoulou, K.; Bustamante, M.; Penninx, B. W. J. H.; Murabito, J. M.; Torrent, M.; Dedoussis, G. V.; Kiess, W.; Boomsma, D. I.; Pennell, C. E.; Raitakari, O. T.; Hypponen, E.; Smith, G. D.; Ripatti, S.; Mccarthy, M. I.; Widen, E.; Adair, L. S.; Atalay, M.; van Beijsterveldt, T.; Bergen, N.; Benke, K.; Bradfield, J. P.; Charoen, P.; Coin, L.; Cooper, C.; Das, S.; Davis, O. S. P.; Elliott, P.; Estivill, X.; Evans, D. M.; Feenstra, B.; Flexeder, C.; Frayling, T.; Freathy, R. M.; Gaillard, R.; Geller, F.; Gillman, M.; Grant, S. F. A.; Goh, L. -K.; Guxens, M.; Hakonarson, H.; Hattersley, A. T.; Haworth, C. M. A.; Hadley, D.; Hedebrand, J.; Heinrich, J.; Hinney, A.; Hirschhorn, J. N.; Hocher, B.; Holloway, J. W.; Holst, C.; Hottenga, J. J.; Horikoshi, M.; Huikari, V.; Iniguez, C.; Jaddoe, V. W. V.; Jarvelin, M. -R.; Kaakinen, M.; Kilpelainen, T. O.; Kirin, M.; Kowgier, M.; Lakka, H. -M.; Lakka, T. A.; Lange, L. A.; Lawlor, D. A.; Lewin, A.; Lindgren, C.; Lindi, V.; Maggi, R.; Marsh, J.; Melbye, M.; Millwood, I.; Mohlke, K. L.; Mook-Kanamori, D. O.; Murray, J. C.; Nivard, M.; Nohr, E. A.; Oken, E.; Ong, K. K.; O'Reilly, P. F.; Palmer, L. J.; Pararajasingham, J.; Pearson, E. R.; Price, T. S.; Prokopenko, I.; Rodriguez, A.; Salem, R. M.; Saw, S. -M.; Scherag, A.; Sebert, S.; Simell, O.; Sorensen, T. I. A.; Sovio, U.; St Pourcain, B.; Strachan, D. P.; Sunyer, J.; Rob Taal, H.; Teo, Y. -Y.; Thiering, E.; Tiesler, C.; Uitterlinden, A. G.; Valcarcel, B.; Warrington, N. M.; White, S.; Willemsen, G.; Wilson, J. F.; Yaghootkar, H.; Elks, C. E.; Sulem, P.; Chasman, D. I.; Franceschini, N.; He, C.; Lunetta, K. L.; Visser, J. A.; Byrne, E. M.; Gudbjartsson, D. F.; Esko, T.; Hottenga, J. -J.; Koller, D. L.; Kutalik, Z.; Lin, P.; Mangino, M.; Marongiu, M.; Mcardle, P. F.; Smith, A. V.; Stolk, L.; van Wingerden, S. H.; Zhao, J. H.; Albrecht, E.; Corre, T.; Ingelsson, E.; Hayward, C.; Magnusson, P. K. E.; Smith, E. N.; Ulivi, S.; Zgaga, L.; Alavere, H.; Amin, N.; Aspelund, T.; Bandinelli, S.; Barroso, I.; Berenson, G. S.; Bergmann, S.; Blackburn, H.; Boerwinkle, E.; Buring, J. E.; Busonero, F.; Campbell, H.; Chanock, S. J.; Chen, W.; Cornelis, M. C.; Couper, D.; Coviello, A. D.; D'Adamo, P.; de Faire, U.; de Geus, E. J. C.; Deloukas, P.; Doring, A.; Easton, D. F.; Eiriksdottir, G.; Emilsson, V.; Eriksson, J.; Ferrucci, L.; Folsom, A. R.; Foroud, T.; Garcia, M.; Gasparini, P.; Gieger, C.; Gudnason, V.; Hall, P.; Hankinson, S. E.; Ferreli, L.; Heath, A. C.; Hernandez, D. G.; Hofman, A.; Hu, F. B.; Illig, T.; Johnson, A. D.; Karasik, D.; Khaw, K. -T.; Kiel, D. P.; Kolcic, I.; Kraft, P.; Launer, L. J.; Laven, J. S. E.; Li, S.; Liu, J.; Levy, D.; Martin, N. G.; Mcardle, W. L.; Mooser, V.; Murray, S. S.; Nalls, M. A.; Navarro, P.; Nelis, M.; Ness, A. R.; Northstone, K.; Oostra, B. A.; Peacock, M.; Palotie, A.; Pare, G.; Parker, A. N.; Pedersen, N. L.; Peltonen, L.; Pharoah, P.; Polasek, O.; Plump, A. S.; Pouta, A.; Porcu, E.; Rafnar, T.; Rice, J. P.; Ring, S. M.; Rivadeneira, F.; Rudan, I.; Sala, C.; Salomaa, V.; Sanna, S.; Schlessinger, D.; Schork, N. J.; Scuteri, A.; Segre, A. V.; Shuldiner, A. R.; Soranzo, N.; R Srinivasan, S.; Tammesoo, M. -L.; Tikkanen, E.; Toniolo, D.; Tsui, K.; Tryggvadottir, L.; Tyrer, J.; Uda, M.; van Dam, R. M.; van Meurs, J. B. J.; Vollenweider, P.; Waeber, G.; Wareham, N. J.; Waterworth, D. M.; Weedon, M. N.; Wichmann, H. E.; Wright, A. F.; Young, L.; Zhai, G.; Zhuang, W. V.; Bierut, L. J.; Boyd, H. A.; Crisponi, L.; Demerath, E. W.; van Duijn, C. M.; Econs, M. J.; Harris, T. B.; Hunter, D. J.; Loos, R. J. F.; Metspalu, A.; Montgomery, G. W.; Ridker, P. M.; Spector, T. D.; Streeten, E. A.; Stefansson, K.; Thorsteinsdottir, U.; Widen, E.; Murray, A.
lincRNA-mRNA transcriptional regulatory co-expression network from RNA-seq data in 624 Sardinian individuals
2014 Forabosco, P; Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Jones, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; B Montgomery, S; Cucca, F
A comprehensive phenotypic and genetic analysis of centenarians from 13 Villages located in the Sardinian region of Barbagia-Mandrolisai
2012 Silvana A. M. Urru; Liana Ferreli; Gianluca Zedda; Nicolò Curreli; Maria Grazia Piras; Monia Lobina; Mara Marongiu; Matteo Floris; Serena Sanna; Valeria Orrù; Edoardo Fiorillo; Renzo Galanello; Alice Atzeni; Antonello Pani; Francesco Cucca.
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
2012 Stolk L; Perry JR; Chasman DI; He C; Mangino M; Sulem P; Barbalic M; Broer L; Byrne EM; Ernst F; Esko T; Franceschini N; Gudbjartsson DF; Hottenga JJ; Kraft P; McArdle PF; Porcu E; Shin SY; Smith AV; van Wingerden S; Zhai G; Zhuang WV; Albrecht E; Alizadeh BZ; Aspelund T; Bandinelli S; Lauc LB; Beckmann JS; Boban M; Boerwinkle E; Broekmans FJ; Burri A; Campbell H; Chanock SJ; Chen C; Cornelis MC; Corre T; Coviello AD; d'Adamo P; Davies G; de Faire U; de Geus EJ; Deary IJ; Dedoussis GV; Deloukas P; Ebrahim S; Eiriksdottir G; Emilsson V; Eriksson JG; Fauser BC; Ferreli L; Ferrucci L; Fischer K; Folsom AR; Garcia ME; Gasparini P; Gieger C; Glazer N; Grobbee DE; Hall P; Haller T; Hankinson SE; Hass M; Hayward C; Heath AC; Hofman A; Ingelsson E; Janssens AC; Johnson AD; Karasik D; Kardia SL; Keyzer J; Kiel DP; Kolcic I; Kutalik Z; Lahti J; Lai S; Laisk T; Laven JS; Lawlor DA; Liu J; Lopez LM; Louwers YV; Magnusson PK; Marongiu M; Martin NG; Klaric IM; Masciullo C; McKnight B; Medland SE; Melzer D; Mooser V; Navarro P; Newman AB; Nyholt DR; OnlandMoret NC; Palotie A; Paré G; Parker AN; Pedersen NL; Peeters PH; Pistis G; Plump AS; Polasek O; Pop VJ; Psaty BM; Räikkönen K; Rehnberg E; Rotter JI; Rudan I; Sala C; Salumets A; Scuteri A; Singleton A; Smith JA; Snieder H; Soranzo N; Stacey SN; Starr JM; Stathopoulou MG; Stirrups K; Stolk RP; Styrkarsdottir U; Sun YV; Tenesa A; Thorand B; Toniolo D; Tryggvadottir L; Tsui K; Ulivi S; van Dam RM; van der Schouw YT; van Gils CH; van Nierop P; Vink JM; Visscher PM; Voorhuis M; Waeber G; Wallaschofski H; Wichmann HE; Widen E; Wijnandsvan Gent CJ; Willemsen G; Wilson JF; Wolffenbuttel BH; Wright AF; YergesArmstrong LM; Zemunik T; Zgaga L; Zillikens MC; Zygmunt M; Study TL; Arnold AM; Boomsma DI; Buring JE; Crisponi L; Demerath EW; Gudnason V; Harris TB; Hu FB; Hunter DJ; Launer LJ; Metspalu A; Montgomery GW; Oostra BA; Ridker PM; Sanna S; Schlessinger D; Spector TD; Stefansson K; Streeten EA; Thorsteinsdottir U; Uda M; Uitterlinden AG; van Duijn CM; Völzke H; Murray A; Murabito JM; Visser JA; Lunetta KL.
The genetics of gene expression, splicing and transcriptional efficiency through Poly-A selection and ribosomal depletion RNA sequencing in humans.
2012 Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Joens, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; Cucca, F; B Montgomery, S
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders
2011 Herholz, Jana; Meloni, Alessandra; Marongiu, Mara; Chiappe, Francesca; Chiappe, Francesca; Deiana, Manila; Herrero Carmen, Roche; Zampino, Giuseppe; Hamamy, Hanan; Zalloum, Yusra; Waaler Per, Erik; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Large-scale transcriptome study in the Sardinian founder population.
2011 Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Jones, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; Cucca, F
SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies.
2011 Georges, A; Benayoun, Ba; Marongiu, M; Dipietromaria, A; L'Hôte, D; Todeschini, Al; Auer, J; Crisponi, L; Veitia, Ra
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset | 1-gen-2024 | Forabosco, P.; Pala, M.; Crobu, F.; Diana, M. A.; Marongiu, M.; Cusano, R.; Angius, A.; Steri, M.; Orru, V.; Schlessinger, D.; Fiorillo, E.; Devoto, M.; Cucca, F. | |
| Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency | 1-gen-2022 | Marongiu, Mara; Crisponi, Laura; Uda, Manuela; Pelosi, Emanuele | |
| Complex genetic signatures in immune cells underlie autoimmunity and inform therapy | 1-gen-2020 | Orrù, V; Steri, M; Sidore, C; Marongiu, M; Serra, V; Olla, S; Sole, G; Lai, S; Dei, M; Mulas, A; Virdis, F; Piras, Mg; Lobina, M; Marongiu, M; Pitzalis, M; Deidda, F; Loizedda, A; Onano, S; Zoledziewska, M; Sawcer, S; Devoto, M; Gorospe, M; Abecasis, Gr; Floris, M; Pala, M; Schlessinger, D; Fiorillo, E; Cucca, F | |
| Dissection of the BAFF pathway in Multiple Sclerosis with a view toward more specific and effective therapies | 1-gen-2019 | Olla, S; Idda, Ml; Deiana, M; Delogu, G; Lodde, V; Steri, M; Orrù, V; Floris, M; Pitzalis, M Pala M; Sidore, C; Mulas, A; Piras, Mg; Lobina, M; Lai, S; Marongiu, Mara; Serra, V; Marongiu, Michele; Sole, G; Busonero, F; Maschio, A; Dei, M; Deidda, F; Poddie, F; Farina, G; Frau, J; Costa, G; Coghe, G; Lorefice, L; Fenu, G; Marrosu, Mg; Cocco, E; Fiorillo, E; Zoledziewska, M; Cucca, F | |
| Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026)) | 1-gen-2018 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M.E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Overexpression of the Cytokine BAFF and Autoimmunity Risk | 1-gen-2017 | Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, Valeria; Floris, M.; Deiana, Manila.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, Maria Grazia; Lobina, Monia; Lai, Sandra; Marongiu, Mara.; Serra, Valentina; Marongiu, Michele.; Sole, Gabriella.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, Maria A.; Pani, Mario; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; Castillo-Palma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, Antonello; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, Alessandra; Sanna, Serena; Gorospe, M.; Schlessinger, D.; Fiorillo, Edoardo; Zoledziewska, M.; Cucca, F. | |
| Population- and individual-specific regulatory variation in Sardinia. | 1-gen-2017 | Pala, Mauro; Zappala, Zachary; Marongiu, Mara; Li, Xin; Davis Joe, R; Cusano, Roberto; Crobu, Francesca; Kukurba Kimberly, R; Gloudemans Michael, J; Reinier, Frederic; Berutti, Riccardo; Piras Maria, G; Mulas, Antonella; Zoledziewska, Magdalena; Marongiu, Michele; Sorokin Elena, P; Hess Gaelen, T; Smith Kevin, S; Busonero, Fabio; Maschio, Andrea; Steri, Maristella; Sidore, Carlo; Sanna, Serena; Fiorillo, Edoardo; Bassik Michael, C; Sawcer Stephen, J; Battle, Alexis; Novembre, John; Jones, Chris; Angius, Andrea; Abecasis Goncalo, R; Schlessinger, David; Cucca, Francesco; Montgomery Stephen, B | |
| Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | 1-gen-2016 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Novel action of FOXL2 as mediator of Col1a2 gene autoregulation | 1-gen-2016 | Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura | |
| FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice | 1-gen-2015 | Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura | |
| A large-scale transcriptome study in the Sardinian population | 1-gen-2014 | Pala, Mauro; Marongiu, Mara; Zappala, Z; Mulas, Antonella; Cusano, Roberto; Crobu, Francesca; Reinier, Frederic; Berutti, Riccardo; Piras, Mg; S Jones, Christopher M; Schlessinger, David; R Abecasis, Gonçalo; Angius, Andrea; Sanna, Serena; Cucca, Francesco; Montgomery, Stephen | |
| An integrated framework for evaluating the pathogenicity of rare, population-specific non-coding variation. | 1-gen-2014 | Zappala, Z; Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Jones, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; Cucca, F; B Montgomery, S | |
| Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty | 1-gen-2014 | Cousminer, D. L.; Stergiakouli, E.; Berry, D. J.; Ang, W.; Groen-Blokhuis, M. M.; Korner, A.; Siitonen, N.; Ntalla, I.; Marinelli, M.; Perry, J. R. B.; Kettunen, J.; Jansen, R.; Surakka, I.; Timpson, N. J.; Ring, S.; Mcmahon, G.; Power, C.; Wang, C.; Kahonen, M.; Viikari, J.; Lehtimaki, T.; Middeldorp, C. M.; Hulshoff Pol, H. E.; Neef, M.; Weise, S.; Pahkala, K.; Niinikoski, H.; Zeggini, E.; Panoutsopoulou, K.; Bustamante, M.; Penninx, B. W. J. H.; Murabito, J. M.; Torrent, M.; Dedoussis, G. V.; Kiess, W.; Boomsma, D. I.; Pennell, C. E.; Raitakari, O. T.; Hypponen, E.; Smith, G. D.; Ripatti, S.; Mccarthy, M. I.; Widen, E.; Adair, L. S.; Atalay, M.; van Beijsterveldt, T.; Bergen, N.; Benke, K.; Bradfield, J. P.; Charoen, P.; Coin, L.; Cooper, C.; Das, S.; Davis, O. S. P.; Elliott, P.; Estivill, X.; Evans, D. M.; Feenstra, B.; Flexeder, C.; Frayling, T.; Freathy, R. M.; Gaillard, R.; Geller, F.; Gillman, M.; Grant, S. F. A.; Goh, L. -K.; Guxens, M.; Hakonarson, H.; Hattersley, A. T.; Haworth, C. M. A.; Hadley, D.; Hedebrand, J.; Heinrich, J.; Hinney, A.; Hirschhorn, J. N.; Hocher, B.; Holloway, J. W.; Holst, C.; Hottenga, J. J.; Horikoshi, M.; Huikari, V.; Iniguez, C.; Jaddoe, V. W. V.; Jarvelin, M. -R.; Kaakinen, M.; Kilpelainen, T. O.; Kirin, M.; Kowgier, M.; Lakka, H. -M.; Lakka, T. A.; Lange, L. A.; Lawlor, D. A.; Lewin, A.; Lindgren, C.; Lindi, V.; Maggi, R.; Marsh, J.; Melbye, M.; Millwood, I.; Mohlke, K. L.; Mook-Kanamori, D. O.; Murray, J. C.; Nivard, M.; Nohr, E. A.; Oken, E.; Ong, K. K.; O'Reilly, P. F.; Palmer, L. J.; Pararajasingham, J.; Pearson, E. R.; Price, T. S.; Prokopenko, I.; Rodriguez, A.; Salem, R. M.; Saw, S. -M.; Scherag, A.; Sebert, S.; Simell, O.; Sorensen, T. I. A.; Sovio, U.; St Pourcain, B.; Strachan, D. P.; Sunyer, J.; Rob Taal, H.; Teo, Y. -Y.; Thiering, E.; Tiesler, C.; Uitterlinden, A. G.; Valcarcel, B.; Warrington, N. M.; White, S.; Willemsen, G.; Wilson, J. F.; Yaghootkar, H.; Elks, C. E.; Sulem, P.; Chasman, D. I.; Franceschini, N.; He, C.; Lunetta, K. L.; Visser, J. A.; Byrne, E. M.; Gudbjartsson, D. F.; Esko, T.; Hottenga, J. -J.; Koller, D. L.; Kutalik, Z.; Lin, P.; Mangino, M.; Marongiu, M.; Mcardle, P. F.; Smith, A. V.; Stolk, L.; van Wingerden, S. H.; Zhao, J. H.; Albrecht, E.; Corre, T.; Ingelsson, E.; Hayward, C.; Magnusson, P. K. E.; Smith, E. N.; Ulivi, S.; Zgaga, L.; Alavere, H.; Amin, N.; Aspelund, T.; Bandinelli, S.; Barroso, I.; Berenson, G. S.; Bergmann, S.; Blackburn, H.; Boerwinkle, E.; Buring, J. E.; Busonero, F.; Campbell, H.; Chanock, S. J.; Chen, W.; Cornelis, M. C.; Couper, D.; Coviello, A. D.; D'Adamo, P.; de Faire, U.; de Geus, E. J. C.; Deloukas, P.; Doring, A.; Easton, D. F.; Eiriksdottir, G.; Emilsson, V.; Eriksson, J.; Ferrucci, L.; Folsom, A. R.; Foroud, T.; Garcia, M.; Gasparini, P.; Gieger, C.; Gudnason, V.; Hall, P.; Hankinson, S. E.; Ferreli, L.; Heath, A. C.; Hernandez, D. G.; Hofman, A.; Hu, F. B.; Illig, T.; Johnson, A. D.; Karasik, D.; Khaw, K. -T.; Kiel, D. P.; Kolcic, I.; Kraft, P.; Launer, L. J.; Laven, J. S. E.; Li, S.; Liu, J.; Levy, D.; Martin, N. G.; Mcardle, W. L.; Mooser, V.; Murray, S. S.; Nalls, M. A.; Navarro, P.; Nelis, M.; Ness, A. R.; Northstone, K.; Oostra, B. A.; Peacock, M.; Palotie, A.; Pare, G.; Parker, A. N.; Pedersen, N. L.; Peltonen, L.; Pharoah, P.; Polasek, O.; Plump, A. S.; Pouta, A.; Porcu, E.; Rafnar, T.; Rice, J. P.; Ring, S. M.; Rivadeneira, F.; Rudan, I.; Sala, C.; Salomaa, V.; Sanna, S.; Schlessinger, D.; Schork, N. J.; Scuteri, A.; Segre, A. V.; Shuldiner, A. R.; Soranzo, N.; R Srinivasan, S.; Tammesoo, M. -L.; Tikkanen, E.; Toniolo, D.; Tsui, K.; Tryggvadottir, L.; Tyrer, J.; Uda, M.; van Dam, R. M.; van Meurs, J. B. J.; Vollenweider, P.; Waeber, G.; Wareham, N. J.; Waterworth, D. M.; Weedon, M. N.; Wichmann, H. E.; Wright, A. F.; Young, L.; Zhai, G.; Zhuang, W. V.; Bierut, L. J.; Boyd, H. A.; Crisponi, L.; Demerath, E. W.; van Duijn, C. M.; Econs, M. J.; Harris, T. B.; Hunter, D. J.; Loos, R. J. F.; Metspalu, A.; Montgomery, G. W.; Ridker, P. M.; Spector, T. D.; Streeten, E. A.; Stefansson, K.; Thorsteinsdottir, U.; Widen, E.; Murray, A. | |
| lincRNA-mRNA transcriptional regulatory co-expression network from RNA-seq data in 624 Sardinian individuals | 1-gen-2014 | Forabosco, P; Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Jones, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; B Montgomery, S; Cucca, F | |
| A comprehensive phenotypic and genetic analysis of centenarians from 13 Villages located in the Sardinian region of Barbagia-Mandrolisai | 1-gen-2012 | Silvana A. M. Urru; Liana Ferreli; Gianluca Zedda; Nicolò Curreli; Maria Grazia Piras; Monia Lobina; Mara Marongiu; Matteo Floris; Serena Sanna; Valeria Orrù; Edoardo Fiorillo; Renzo Galanello; Alice Atzeni; Antonello Pani; Francesco Cucca. | |
| Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. | 1-gen-2012 | Stolk L; Perry JR; Chasman DI; He C; Mangino M; Sulem P; Barbalic M; Broer L; Byrne EM; Ernst F; Esko T; Franceschini N; Gudbjartsson DF; Hottenga JJ; Kraft P; McArdle PF; Porcu E; Shin SY; Smith AV; van Wingerden S; Zhai G; Zhuang WV; Albrecht E; Alizadeh BZ; Aspelund T; Bandinelli S; Lauc LB; Beckmann JS; Boban M; Boerwinkle E; Broekmans FJ; Burri A; Campbell H; Chanock SJ; Chen C; Cornelis MC; Corre T; Coviello AD; d'Adamo P; Davies G; de Faire U; de Geus EJ; Deary IJ; Dedoussis GV; Deloukas P; Ebrahim S; Eiriksdottir G; Emilsson V; Eriksson JG; Fauser BC; Ferreli L; Ferrucci L; Fischer K; Folsom AR; Garcia ME; Gasparini P; Gieger C; Glazer N; Grobbee DE; Hall P; Haller T; Hankinson SE; Hass M; Hayward C; Heath AC; Hofman A; Ingelsson E; Janssens AC; Johnson AD; Karasik D; Kardia SL; Keyzer J; Kiel DP; Kolcic I; Kutalik Z; Lahti J; Lai S; Laisk T; Laven JS; Lawlor DA; Liu J; Lopez LM; Louwers YV; Magnusson PK; Marongiu M; Martin NG; Klaric IM; Masciullo C; McKnight B; Medland SE; Melzer D; Mooser V; Navarro P; Newman AB; Nyholt DR; OnlandMoret NC; Palotie A; Paré G; Parker AN; Pedersen NL; Peeters PH; Pistis G; Plump AS; Polasek O; Pop VJ; Psaty BM; Räikkönen K; Rehnberg E; Rotter JI; Rudan I; Sala C; Salumets A; Scuteri A; Singleton A; Smith JA; Snieder H; Soranzo N; Stacey SN; Starr JM; Stathopoulou MG; Stirrups K; Stolk RP; Styrkarsdottir U; Sun YV; Tenesa A; Thorand B; Toniolo D; Tryggvadottir L; Tsui K; Ulivi S; van Dam RM; van der Schouw YT; van Gils CH; van Nierop P; Vink JM; Visscher PM; Voorhuis M; Waeber G; Wallaschofski H; Wichmann HE; Widen E; Wijnandsvan Gent CJ; Willemsen G; Wilson JF; Wolffenbuttel BH; Wright AF; YergesArmstrong LM; Zemunik T; Zgaga L; Zillikens MC; Zygmunt M; Study TL; Arnold AM; Boomsma DI; Buring JE; Crisponi L; Demerath EW; Gudnason V; Harris TB; Hu FB; Hunter DJ; Launer LJ; Metspalu A; Montgomery GW; Oostra BA; Ridker PM; Sanna S; Schlessinger D; Spector TD; Stefansson K; Streeten EA; Thorsteinsdottir U; Uda M; Uitterlinden AG; van Duijn CM; Völzke H; Murray A; Murabito JM; Visser JA; Lunetta KL. | |
| The genetics of gene expression, splicing and transcriptional efficiency through Poly-A selection and ribosomal depletion RNA sequencing in humans. | 1-gen-2012 | Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Joens, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; Cucca, F; B Montgomery, S | |
| Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders | 1-gen-2011 | Herholz, Jana; Meloni, Alessandra; Marongiu, Mara; Chiappe, Francesca; Chiappe, Francesca; Deiana, Manila; Herrero Carmen, Roche; Zampino, Giuseppe; Hamamy, Hanan; Zalloum, Yusra; Waaler Per, Erik; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Large-scale transcriptome study in the Sardinian founder population. | 1-gen-2011 | Pala, M; Marongiu, M; Mulas, A; Cusano, R; Crobu, F; Reinier, F; Berutti, R; G Piras, M; Jones, C; Schlessinger, D; Abecasis, G; Angius, A; Sanna, S; Cucca, F | |
| SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies. | 1-gen-2011 | Georges, A; Benayoun, Ba; Marongiu, M; Dipietromaria, A; L'Hôte, D; Todeschini, Al; Auer, J; Crisponi, L; Veitia, Ra |