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Pio d'Adamo
Pio d'Adamo
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Year
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
CE Elks, JRB Perry, P Sulem, DI Chasman, N Franceschini, C He, ...
Nature genetics 42 (12), 1077-1085, 2010
6032010
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson, T Ferreira, C He, ...
Nature 514 (7520), 92-97, 2014
5912014
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
TC Pansuriya, R van Eijk, P d'Adamo, MAJH van Ruler, ML Kuijjer, ...
Nature genetics 43 (12), 1256-1261, 2011
5652011
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
A Köttgen, E Albrecht, A Teumer, V Vitart, J Krumsiek, C Hundertmark, ...
Nature genetics 45 (2), 145-154, 2013
5012013
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
LV Wain, GC Verwoert, PF O'reilly, G Shi, T Johnson, AD Johnson, ...
Nature genetics 43 (10), 1005-1011, 2011
4992011
New gene functions in megakaryopoiesis and platelet formation
C Gieger, A Radhakrishnan, A Cvejic, W Tang, E Porcu, G Pistis, ...
Nature 480 (7376), 201-208, 2011
4772011
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola, C Viscomi, E Fernandez-Vizarra, F Carrara, P D'Adamo, ...
Nature genetics 38 (5), 570-575, 2006
4752006
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
C Pattaro, A Teumer, M Gorski, AY Chu, M Li, V Mijatovic, M Garnaas, ...
Nature communications 7 (1), 10023, 2016
4682016
Genetic structure of Europeans: a view from the North–East
M Nelis, T Esko, R Mägi, F Zimprich, A Zimprich, D Toncheva, ...
PloS one 4 (5), e5472, 2009
4182009
Seventy-five genetic loci influencing the human red blood cell
P Van Der Harst, W Zhang, I Mateo Leach, A Rendon, N Verweij, J Sehmi, ...
Nature 492 (7429), 369-375, 2012
3822012
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
L Stolk, JRB Perry, DI Chasman, C He, M Mangino, P Sulem, M Barbalic, ...
Nature genetics 44 (3), 260-268, 2012
3702012
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
DE Arking, SL Pulit, L Crotti, P Van Der Harst, PB Munroe, TT Koopmann, ...
Nature genetics 46 (8), 826-836, 2014
3202014
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ...
Nature genetics 41 (6), 654-656, 2009
2912009
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
C Giordano, L Iommarini, L Giordano, A Maresca, A Pisano, ML Valentino, ...
Brain 137 (2), 335-353, 2014
2872014
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
V Tiranti, P D’Adamo, E Briem, G Ferrari, R Mineri, E Lamantea, H Mandel, ...
The American Journal of Human Genetics 74 (2), 239-252, 2004
2372004
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
P D’Adamo, F Novara, O Zuffardi, G Uziel, M Zeviani
The American Journal of Human Genetics 86, 639-649, 2010
2282010
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
V Massa, E Fernandez-Vizarra, S Alshahwan, E Bakhsh, P Goffrini, ...
The American Journal of Human Genetics 82 (6), 1281-1289, 2008
2192008
Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy
BJ Tepper, Y Koelliker, L Zhao, NV Ullrich, C Lanzara, P d'Adamo, ...
Obesity 16 (10), 2289-2295, 2008
2122008
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
D Ghezzi, P Arzuffi, M Zordan, C Da Re, C Lamperti, C Benna, P D'Adamo, ...
Nature genetics 43 (3), 259-263, 2011
2002011
Genetic variation in taste sensitivity to 6‐n‐propylthiouracil and its relationship to taste perception and food selection
BJ Tepper, EA White, Y Koelliker, C Lanzara, P d'Adamo, P Gasparini
Annals of the new York Academy of Sciences 1170 (1), 126-139, 2009
1732009
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