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Maria Sabater Lleal


Besöksadress : Cmm, L8:03, Karolinska Universitetssjukhuset 171 76 Stockholm
Postadress : Institutionen för medicin, Solna (MedS), K2, Forskargrupp P Eriksson, Cmm, L8:03, Karolinska Universitetssjukhuset, Solna 171 76 Stockholm
Leveransadress : Cmm, L8:02, Karolinska Universitetssjukhuset, Solna 171 76 Stockholm


Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study
De Vries Ps, Sabater-lleal M, Chasman Di, Trompet S, Ahluwalia Ts, Teumer A, et al
PloS one 2017;12(1):e0167742-

Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels
Sennblad B, Basu S, Mazur J, Suchon P, Martinez-perez A, Van Hylckama Vlieg A, et al
Human molecular genetics 2017;():-

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration
De Vries Ps, Chasman Di, Sabater-lleal M, Chen Mh, Huffman Je, Steri M, et al
Human molecular genetics 2016;25(2):358-70

Analysis with the exome array identifies multiple new independent variants in lipid loci
Kanoni S, Masca Ng, Stirrups Ke, Varga Tv, Warren Hr, Scott Ra, et al
Human molecular genetics 2016;25(18):4094-4106

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
Iotchkova V, Huang J, Morris Ja, Jain D, Barbieri C, Walter K, et al
Nature genetics 2016;48(11):1303-1312

Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis
Hinds Da, Buil A, Ziemek D, Martinez-perez A, Malik R, Folkersen L, et al
Human molecular genetics 2016;25(9):1867-74

Phenotypic Modulation of Smooth Muscle Cells in Atherosclerosis Is Associated With Downregulation of LMOD1, SYNPO2, PDLIM7, PLN, and SYNM
Perisic Matic L, Rykaczewska U, Razuvaev A, Sabater-lleal M, Lengquist M, Miller Cl, et al
Arteriosclerosis, thrombosis, and vascular biology 2016;36(9):1947-61

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
Wessel J, Chu Ay, Willems Sm, Wang S, Yaghootkar H, Brody Ja, et al
Nature communications 2015;6():5897-

Predicting venous thrombosis in women using a combination of genetic markers and clinical risk factors
Bruzelius M, Bottai M, Sabater-lleal M, Strawbridge Rj, Bergendal A, Silveira A, et al
Journal of thrombosis and haemostasis : JTH 2015;13(2):219-27

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF
Huffman Je, De Vries Ps, Morrison Ac, Sabater-lleal M, Kacprowski T, Auer Pl, et al
Blood 2015;126(11):e19-29

Sex-Specific Effects of Adiponectin on Carotid Intima-Media Thickness and Incident Cardiovascular Disease
Persson J, Strawbridge Rj, Mcleod O, Gertow K, Silveira A, Baldassarre D, et al
Journal of the American Heart Association 2015;4(8):e001853-

Common genetic determinants of lung function, subclinical atherosclerosis and risk of coronary artery disease
Sabater-lleal M, Mälarstig A, Folkersen L, Soler Artigas M, Baldassarre D, Kavousi M, et al
PloS one 2014;9(8):e104082-

Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2
Huang J, Huffman Je, Yamakuchi M, Trompet S, Asselbergs Fw, Sabater-lleal M, et al
Arteriosclerosis, thrombosis, and vascular biology 2014;34(5):1093-101

Human genetic evidence for involvement of CD137 in atherosclerosis
Söderström LÅ, Gertow K, Folkersen L, Sabater-lleal M, Sundman E, Sheikine Y, et al
Molecular medicine (Cambridge, Mass.) 2014;20():456-65

Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism
Bruzelius M, Strawbridge Rj, Trégouët Da, Wiggins Kl, Gertow K, Sabater-lleal M, et al
Thrombosis research 2014;134(2):426-32

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects
Baumert J, Huang J, Mcknight B, Sabater-lleal M, Steri M, Chu Ay, et al
PloS one 2014;9(12):e111156-

Genetic determinants of plasma beta(2)-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain
Athanasiadis G, Sabater-lleal M, Buil A, Souto Jc, Borrell M, Lathrop M, et al

Genetic variants from lipid-related pathways and risk for incident myocardial infarction
Song C, Pedersen Nl, Reynolds Ca, Sabater-lleal M, Kanoni S, Willenborg C, et al
PloS one 2013;8(3):e60454-

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease
Sabater-lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson Ad, et al
Circulation 2013;128(12):1310-24

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
Muther Consortium, Diagram Consortium, Manning Ak, Hivert Mf, Scott Ra, Grimsby Jl, et al
NATURE GENETICS 2012;44(6):659-69

A Genome-Wide Association Study Identifies KNG1 as a Genetic Determinant of Plasma Factor XI Level and Activated Partial Thromboplastin Time
Sabater-lleal M, Martinez-perez A, Buil A, Folkersen L, Souto Jc, Bruzelius M, et al

Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
Helgadottir A, Gretarsdottir S, Thorleifsson G, Holm H, Patel Rs, Gudnason T, et al

Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation
Cardiogenics Consortium, C4d Consortium, Cardiogram Consortium, Diagram Consortium, Huang J, Sabater-lleal M, et al
BLOOD 2012;120(24):4873-81

Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk
Gertow K, Sennblad B, Strawbridge Rj, Ohrvik J, Zabaneh D, Shah S, et al
Circulation. Cardiovascular genetics 2012;5(6):656-65

Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies
Il6r Genetics Consortium Emerging, Sarwar N, Butterworth As, Freitag Df, Gregson J, Willeit P, et al
LANCET 2012;379(9822):1205-13

Lack of association of non-synonymous FUT2 and ALPL polymorphisms with venous thrombosis
Tregouet Da, Sabater-lleal M, Bruzelius M, Emmerich J, Amouyel P, Dartigues Jf, et al

Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease
Ibc 50k Cad Consortium, Butterworth As, Braund Ps, Farrall M, Hardwick Rj, Saleheen D, et al
PLOS GENETICS 2011;7(9):e1002260-

Combined cis-regulator elements as important mechanism affecting FXII plasma levels
Sabater-lleal M, Chillon M, Mordillo C, Martinez A, Gil E, Mateo J, et al
THROMBOSIS RESEARCH 2010;125(2):e55-60

Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium
Wellcome Trust Case Control Consor, Smith Nl, Chen Mh, Dehghan A, Strachan Dp, Basu S, et al
CIRCULATION 2010;121(12):1382-92

Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels
Calafell F, Almasy L, Sabater-lleal M, Buil A, Mordillo C, Ramirez-soriano A, et al

The F7 Gene and Clotting Factor VII Levels: Dissection of a Human Quantitative Trait Locus
Soria Jm, Almasy L, Souto Jc, Sabater-lleal M, Fontcuberta J, Blangero J
HUMAN BIOLOGY 2009;81(5-6):853-67

A genome-wide exploration suggests an oligogenic model of inheritance for the TAFI activity and its antigen levels
Sabater-lleal M, Buil A, Souto Jc, Alamsy L, Borrell M, Lathrop M, et al
HUMAN GENETICS 2008;124(1):81-8

Functional analysis of the genetic variability in the F7 gene promoter
Sabater-lleal M, Chillon M, Howard Te, Gil E, Almasy L, Blangero J, et al
ATHEROSCLEROSIS 2007;195(2):262-8

Genetic architecture of the F7 gene in a Spanish population: implication for mapping complex diseases and for functional assays
Sabater-lleal M, Almasy L, Martinez-marchan E, Martinez-sanchez E, Souto R, Blangero J, et al
CLINICAL GENETICS 2006;69(5):420-8

Human F7 sequence is split into three deep clades that are related to FVII plasma levels
Sabater-lleal M, Soria Jm, Bertranpetit J, Almasy L, Blangero J, Fontcuberta J, et al
HUMAN GENETICS 2006;118(6):741-51

The F7 gene and clotting factor VII levels: Dissection of a human quantitative trait locus
Soria Jm, Almasy L, Souto Jc, Sabater-lleal M, Fontcuberta J, Blangero J
HUMAN BIOLOGY 2005;77(5):561-75

Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications
Sabater-lleal M, Martinez-marchan E, Martinez-sanchez E, Coll I, Vallve C, Mateo J, et al
HAEMATOLOGICA 2003;88(8):906-13

High complexity in the genetic basis underling Factor VII deficiency in two Spanish families.
Sabater-lleal M, Soria Jm, Martinez-marchan E, Martinez-sanchez E, Coll I, Vallve C, et al

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