Nicole Soranzo

Q: What Schools Are Affiliated With Nicole Soranzo

Nicole Soranzo is affiliated with the following schools: University College London, University of Dundee, University of Pavia, Massachusetts General Hospital, King's College London, University of Cambridge, King's College, Aberdeen

Nicole Soranzo's AcademicInfluence.com Rankings

Nicole Soranzo

Biology

#6475

World Rank

#9200

Historical Rank

Genetics

#908

World Rank

#1004

Historical Rank

biology Degrees

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Biology

Nicole Soranzo's Degrees

Masters Genetics University of Pavia
Bachelors Biotechnology University of Pavia

Why Is Nicole Soranzo Influential?

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According to Wikipedia, Nicole Soranzo is an Italian-British senior group leader in human genetics at the Wellcome Sanger Institute, Professor of Human Genetics at the University of Cambridge. She is an internationally recognised Human Geneticist who has focused on the application of cutting edge genomic technologies to study the spectrum of human genetic variation associated with cardio-metabolic and immune diseases. She has led many large-scale discovery efforts including more than 1,000 novel genetic variants associated with cardio-metabolic diseases and their risk factors as well as establishing the HaemGen consortium, which is a worldwide effort to discover genetic determinants of blood cell formation and also interpretation of the downstream consequences of sequence variation through a host of integrative analyses and functional approaches.

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Nicole Soranzo's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
Integrating common and rare genetic variation in diverse human populations (2010) (2731)
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update (2018) (2509)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
Hundreds of variants clustered in genomic loci and biological pathways affect human height (2010) (1961)
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (2009) (1735)
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update (2016) (1631)
Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008) (1307)
Genome-wide association study identifies eight loci associated with blood pressure (2009) (1225)
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
Common genetic determinants of vitamin D insufficiency: a genome-wide association study (2010) (1177)
Human metabolic individuality in biomedical and pharmaceutical research (2011) (929)
The UK10K project identifies rare variants in health and disease (2015) (926)
An atlas of genetic influences on human blood metabolites (2014) (913)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2010) (897)
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease (2011) (894)
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease (2016) (885)
Genomic atlas of the human plasma proteome (2018) (799)
Mapping cis- and trans-regulatory effects across multiple tissues in twins (2012) (754)
Variants in MTNR1B influence fasting glucose levels (2009) (742)
Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans (2015) (724)
Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior (2010) (688)
Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies (2009) (687)
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations (2012) (678)
Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index (2015) (666)
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study (2008) (658)
A genome-wide perspective of genetic variation in human metabolism (2010) (639)
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease (2011) (638)
A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose (2009) (629)
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013) (568)
Genome-wide association study identifies five loci associated with lung function (2010) (560)
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium (2009) (551)
Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (516)
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2012) (506)
A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness (2014) (482)
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies (2010) (477)
Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels (2011) (476)
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells (2016) (475)
The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study (2011) (460)
Mapping the human genetic architecture of COVID-19 (2021) (455)
Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways (2010) (425)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
New gene functions in megakaryopoiesis and platelet formation (2011) (423)
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture (2015) (399)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium (2009) (369)
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery (2016) (360)
Seventy-five genetic loci influencing the human red blood cell (2012) (357)
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. (2005) (355)
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 (2010) (344)
Biomarkers for Type 2 Diabetes and Impaired Fasting Glucose Using a Nontargeted Metabolomics Approach (2013) (338)
BLUEPRINT to decode the epigenetic signature written in blood (2012) (320)
Common variants near TERC are associated with mean telomere length (2010) (318)
Identification of an imprinted master trans-regulator at the KLF14 locus related to multiple metabolic phenotypes (2011) (316)
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile (2011) (313)
Sequence variants at CHRNB 3 – CHRNA 6 and CYP 2 A 6 affect smoking behavior (2010) (312)
Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis (2017) (308)
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study (2017) (302)
Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders (2013) (299)
Genetic architecture: the shape of the genetic contribution to human traits and disease (2017) (298)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) (296)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2017) (294)
A brief history of human disease genetics (2020) (288)
Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension (2010) (285)
A genome-wide association study of anorexia nervosa (2014) (284)
A Comprehensive Evaluation of Potential Lung Function Associated Genes in the SpiroMeta General Population Sample (2011) (281)
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche (2009) (276)
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (2011) (270)
Transcriptional diversity during lineage commitment of human blood progenitors (2014) (269)
Collaborative Meta-analysis: Associations of 150 Candidate Genes With Osteoporosis and Osteoporotic Fracture (2009) (267)
Genetic loci influencing kidney function and chronic kidney disease (2010) (266)
A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (252)
Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size (2009) (247)
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology (2010) (247)
Human serum metabolic profiles are age dependent (2012) (247)
The impact of rare and low-frequency genetic variants in common disease (2017) (245)
The Polygenic and Monogenic Basis of Blood Traits and Diseases (2020) (242)
A low mutation rate for chloroplast microsatellites. (1999) (240)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension (2018) (238)
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension (2016) (234)
Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease (2011) (228)
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations (2020) (225)
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi (2009) (223)
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. (2018) (221)
A Genome-Wide Association Meta-Analysis of Circulating Sex Hormone–Binding Globulin Reveals Multiple Loci Implicated in Sex Steroid Hormone Regulation (2012) (216)
An Integration of Genome-Wide Association Study and Gene Expression Profiling to Prioritize the Discovery of Novel Susceptibility Loci for Osteoporosis-Related Traits (2010) (213)
Genetic evidence of assortative mating in humans (2017) (199)
Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming (2016) (194)
Ancient and Recent Positive Selection Transformed Opioid cis-Regulation in Humans (2005) (194)
A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function (2013) (193)
Positive Selection on a High-Sensitivity Allele of the Human Bitter-Taste Receptor TAS2R16 (2005) (190)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility (2015) (185)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. (2010) (178)
Amplified fragment length polymorphism (AFLP) analysis of genetic variation in Moringa oleifera Lam. (1999) (177)
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. (2010) (168)
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers (2015) (168)
A Genome-Wide Association Study Reveals Variants in ARL15 that Influence Adiponectin Levels (2009) (164)
Organisation and structural evolution of the rice glutathione S-transferase gene family (2004) (163)
Large Scale Association Analysis of Novel Genetic Loci for Coronary Artery Disease (2009) (163)
Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease (2014) (163)
Patterns of variation at a mitochondrial sequence‐tagged‐site locus provides new insights into the postglacial history of European Pinus sylvestris populations (2000) (157)
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis (2017) (156)
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways (2012) (150)
Meta-analyses identify 13 novel loci associated with age at menopause and highlights DNA repair and immune pathways (2011) (149)
A single-nucleotide polymorphism tagging set for human drug metabolism and transport (2005) (147)
Loci influencing blood pressure identified using a cardiovascular gene-centric array. (2013) (145)
Directional dominance on stature and cognition in diverse human populations (2015) (144)
NCBI BLAST+ integrated into Galaxy (2015) (143)
Loci at chromosomes 13, 19 and 20 influence age at natural menopause (2009) (143)
Ischemic Stroke Is Associated with the ABO Locus: The EuroCLOT Study (2013) (142)
Positive Selection on a Human-Specific Transcription Factor Binding Site Regulating IL4 Expression (2003) (137)
ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach. (2006) (137)
Common variants in the region around Osterix are associated with bone mineral density and growth in childhood (2009) (135)
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. (2011) (133)
Differential methylation of the TRPA1 promoter in pain sensitivity (2014) (133)
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 (2013) (133)
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (2016) (131)
Comparing association network algorithms for reverse engineering of large-scale gene regulatory networks: synthetic versus real data (2007) (131)
Orione, a web-based framework for NGS analysis in microbiology (2014) (128)
Gene–pool variation in Caledonian and European Scots pine (Pinus sylvestris L.) revealed by chloroplast simple–sequence repeats (1998) (127)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (127)
IRF4 variants have age-specific effects on nevus count and predispose to melanoma. (2010) (126)
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. (2009) (124)
A genome-wide association study identifies three loci associated with mean platelet volume. (2009) (123)
Multiple Loci Are Associated with White Blood Cell Phenotypes (2011) (123)
Synthetic Associations Are Unlikely to Account for Many Common Disease Genome-Wide Association Signals (2011) (123)
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes (2015) (121)
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types (2016) (118)
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation (2018) (117)
Male-pattern baldness susceptibility locus at 20p11 (2008) (117)
Characterization of microsatellite loci in Pinus sylvestris L. (1998) (115)
GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals (2019) (114)
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa (2019) (112)
Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene. (2004) (112)
JAK2V617F leads to intrinsic changes in platelet formation and reactivity in a knock-in mouse model of essential thrombocythemia. (2013) (110)
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits (2017) (110)
Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis (2015) (106)
Community-driven data analysis training for biology (2017) (105)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2011) (104)
An example of microsatellite length variation in the mitochondrial genome of conifers. (1999) (100)
SMIM1 underlies the Vel blood group and influences red blood cell traits (2013) (98)
Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants? (2009) (97)
Association of genetic loci: Replication or not, that is the question (2004) (97)
Height-reducing variants and selection for short stature in Sardinia (2015) (94)
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. (2012) (93)
From Knockouts to Networks: Establishing Direct Cause-Effect Relationships through Graph Analysis (2010) (89)
Whole-genome sequence-based analysis of thyroid function (2015) (89)
Practical Computational Reproducibility in the Life Sciences. (2018) (89)
Metabolomic Identification of a Novel Pathway of Blood Pressure Regulation Involving Hexadecanedioate (2015) (88)
Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types (2016) (88)
Eight blood pressure loci identified by genome-wide association study of 34,433 people of European ancestry (2009) (88)
Eight Common Genetic Variants Associated with Serum DHEAS Levels Suggest a Key Role in Ageing Mechanisms (2011) (86)
A map of transcriptional heterogeneity and regulatory variation in human microglia (2019) (86)
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. (2014) (86)
The Presence of Methylation Quantitative Trait Loci Indicates a Direct Genetic Influence on the Level of DNA Methylation in Adipose Tissue (2013) (85)
A multiple phenotype imputation method for genetic studies (2016) (84)
Alterations of a Cellular Cholesterol Metabolism Network Are a Molecular Feature of Obesity-Related Type 2 Diabetes and Cardiovascular Disease (2015) (84)
Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. (2010) (83)
Positive Selection on MMP3 Regulation Has Shaped Heart Disease Risk (2004) (80)
Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis (2017) (78)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo (2005) (76)
A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length (2009) (76)
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (2016) (75)
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
Reactome – a curated knowledgebase of biological pathways: megakaryocytes and platelets (2012) (67)
Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies (2009) (67)
Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (66)
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome (2017) (65)
Genome-wide association study identifies 48 common genetic variants associated with handedness (2019) (65)
Long term conservation of human metabolic phenotypes and link to heritability (2014) (65)
Association of the 9p21.3 Locus With Risk of First-Ever Myocardial Infarction in Pakistanis: Case-Control Study in South Asia and Updated Meta-Analysis of Europeans (2010) (65)
Genetic Predictors of Fibrin D-Dimer Levels in Healthy Adults (2011) (63)
Genetic Influences on Metabolite Levels: A Comparison across Metabolomic Platforms (2016) (63)
Human genomics: The end of the start for population sequencing (2015) (62)
Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes (2011) (60)
Genes Contributing to Pain Sensitivity in the Normal Population: An Exome Sequencing Study (2012) (60)
A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium (2009) (59)
Identification of PLCL1 Gene for Hip Bone Size Variation in Females in a Genome-Wide Association Study (2008) (59)
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. (2012) (58)
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2020) (58)
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations (2017) (57)
Genome-Wide Association Analysis of Eating Disorder-Related Symptoms, Behaviors, and Personality Traits (2012) (57)
Transcriptomic profiles of aging in purified human immune cells (2015) (56)
A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy (2007) (55)
Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. (2018) (54)
Functional interpretation of non-coding sequence variation: Concepts and challenges (2013) (54)
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2020) (53)
Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits (2011) (52)
Determining the distance to monotonicity of a biological network: a graph-theoretical approach. (2010) (50)
A locus on chromosome 1p36 is associated with thyrotropin and thyroid function as identified by genome-wide association study. (2010) (47)
Platelet function is modified by common sequence variation in megakaryocyte super enhancers (2017) (46)
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. (2017) (44)
Long‐ and short‐term outcomes in renal allografts with deceased donors: A large recipient and donor genome‐wide association study (2018) (44)
The Use of Genome-Wide eQTL Associations in Lymphoblastoid Cell Lines to Identify Novel Genetic Pathways Involved in Complex Traits (2011) (44)
Significant impact of miRNA–target gene networks on genetics of human complex traits (2016) (43)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
Maps of open chromatin highlight cell type–restricted patterns of regulatory sequence variation at hematological trait loci (2013) (42)
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis (2021) (40)
Bioconda: sustainable and comprehensive software distribution for the life sciences (2017) (40)
Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (39)
Genome-Wide Association Study for Circulating Tissue Plasminogen Activator Levels and Functional Follow-Up Implicates Endothelial STXBP5 and STX2 (2014) (39)
Genetic Determinants of Variability in Glycated Hemoglobin (HbA1c) in Humans: Review of Recent Progress and Prospects for Use in Diabetes Care (2011) (38)
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches (2019) (37)
Simulating systems genetics data with SysGenSIM (2011) (37)
GARFIELD - GWAS Analysis of Regulatory or Functional Information Enrichment with LD correction (2016) (36)
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. (2016) (36)
Discerning static and causal interactions in genome-wide reverse engineering problems (2008) (35)
A Genome-Wide Screen for Interactions Reveals a New Locus on 4p15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol (2011) (34)
Using ancestry-informative markers to identify fine structure across 15 populations of European origin (2014) (34)
Using ancestry-informative markers to identify fine structure across 15 populations of European origin (2014) (34)
Small effective population size and genetic homogeneity in the Val Borbera isolate (2012) (33)
Common genetic determinants of vitamin D insufficiency (2011) (32)
Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake. (2011) (32)
Lack of Support for a Role for RLIP76 (RALBP1) in Response to Treatment or Predisposition to Epilepsy (2007) (31)
Genome-wide meta-analysis of common variant differences between men and women (2012) (31)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses. (2014) (30)
ERNEST: a toolbox for chemical reaction network theory (2009) (30)
Genetic Determinants of Major Blood Lipids in Pakistanis Compared With Europeans (2010) (29)
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases (2019) (29)
A Loss of Function Screen of Identified Genome-Wide Association Study Loci Reveals New Genes Controlling Hematopoiesis (2014) (28)
Multicohort analysis of the maternal age effect on recombination (2015) (28)
Disentangling the genetics of lean mass. (2019) (28)
Genome-Wide Association Study Identifies Two Novel Regions at 11p15.5-p13 and 1p31 with Major Impact on Acute-Phase Serum Amyloid A (2010) (28)
A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
Promoter polymorphisms and allelic imbalance in ABCB1 expression (2007) (27)
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. (2016) (25)
Nonadditive Effects of Genes in Human Metabolomics (2015) (23)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
A systematic evaluation of 151 candidate genes for their association with osteoporosis and osteoporotic fracture in a meta-analysis of genome-wide association data (2009) (22)
A bird’s-eye view of Italian genomic variation through whole-genome sequencing (2019) (22)
Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
Large genome-wide association study identifies three novel risk variants for restless legs syndrome (2020) (21)
The use of uniparentally inherited simple sequence repeat markers in plant population studies and systematics (1999) (21)
Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases (2020) (21)
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome (2017) (21)
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases (2021) (20)
Consequences of natural perturbations in the human plasma proteome (2017) (20)
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
Personalized and graph genomes reveal missing signal in epigenomic data (2018) (19)
Lack of association of the pregnane X receptor (PXR/NR1I2) gene with inflammatory bowel disease: parallel allelic association study and gene wide haplotype analysis (2006) (19)
The role of common variation in drug transporter genes in refractory epilepsy (2005) (19)
Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids (2014) (18)
From GWAS to function: lessons from blood cells (2015) (17)
Genome-Wide Association Study for Circulating Tissue Plasminogen Activator Levels and Functional Follow-Up Implicates Endothelial STXBP 5 and STX 2 (2014) (17)
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease (2021) (16)
Copy number variation of the APC gene is associated with regulation of bone mineral density☆ (2012) (15)
MultiMeta: an R package for meta-analyzing multi-phenotype genome-wide association studies (2015) (15)
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative (2022) (15)
Immune disease variants modulate gene expression in regulatory CD4+ T cells (2019) (14)
BioBlend.objects: metacomputing with Galaxy (2014) (14)
An interactive genome browser of association results from the UK10K cohorts project (2015) (14)
Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans (2013) (14)
ReGaTE: Registration of Galaxy Tools in Elixir (2017) (13)
Origin of Co-Expression Patterns in E.coli and S.cerevisiae Emerging from Reverse Engineering Algorithms (2008) (12)
Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program (2020) (12)
Identification of PLCL 1 Gene for Hip Bone Size Variation in Females in a Genome-Wide Association Study (2008) (12)
Decompositions of large-scale biological systems based on dynamical properties (2012) (11)
Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates (2020) (11)
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. (2021) (11)
Response to Comment on: Soranzo et al. Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways. Diabetes 2010;59:3229–3239 (2011) (10)
A Hadoop-Galaxy adapter for user-friendly and scalable data-intensive bioinformatics in Galaxy (2014) (10)
Erratum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes (Nature Genetics (2011) 43 (561-564)) (2011) (9)
Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells (2020) (8)
Twenty loci associated with bone mineral density identified by large-scale meta-analysis of genome-wide association datasets (2009) (8)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (8)
LotuS2: an ultrafast and highly accurate tool for amplicon sequencing analysis (2021) (8)
Rare and common genetic determinants of metabolic individuality and their effects on human health (2022) (8)
Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2013) (8)
Erratum: Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis (American Journal of Human Genetics (2016) 99(2) (481–488)(S0002929716302208)(10.1016/j.ajhg.2016.06.016)) (2016) (8)
mRNA stability and the unfolding of gene expression in the long-period yeast metabolic cycle (2009) (8)
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites (2022) (7)
A single-cell RNA-sequencing training and analysis suite using the Galaxy framework (2020) (7)
GeneSeqToFamily: a Galaxy workflow to find gene families based on the Ensembl Compara GeneTrees pipeline (2018) (7)
RNA-Seq Data Analysis in Galaxy. (2021) (7)
Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference (2020) (7)
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (Proceedings of the National Academy Sciences of the United States of America (2011) 108, 17, (7119-7124)) (2011) (6)
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. (2021) (6)
Learning polygenic scores for human blood cell traits (2020) (6)
progenitors Transcriptional diversity during lineage commitment of human blood (2014) (5)
The influence of rare variants in circulating metabolic biomarkers (2018) (5)
FUT6 deficiency compromises basophil function by selectively abrogating their sialyl-Lewis x expression (2021) (5)
No Evidence of Persistence or Inheritance of Mitochondrial DNA Copy Number in Holocaust Survivors and Their Descendants (2020) (4)
Common genetic variants do not associate with CAD in familial hypercholesterolemia (2013) (4)
Network-based metabolite ratios for an improved functional characterization of genome-wide association study results (2016) (4)
Corrigendum: Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming (2017) (4)
A Galaxy-based training resource for single-cell RNA-sequencing quality control and analyses (2019) (4)
Genome-wide association study identifies 48 common genetic variants associated with handedness (2020) (4)
Comparative analysis of neutrophil and monocyte epigenomes (2017) (3)
Heritable contributions versus genetic architecture (2018) (3)
Correction for Schumann et al., Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (2011) (3)
Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation (2018) (3)
Correction: Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits (2011) (3)
Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease (2022) (3)
Explorer A GWAS sequence variant for platelet volume marks an alternative DNM 3 promoter in megakaryocytes near a MEIS 1 binding site (2017) (3)
A single-cell RNA-seq Training and Analysis Suite using the Galaxy Framework (2020) (3)
Oral Abstracts 7: RA ClinicalO37. Long-Term Outcomes of Early RA Patients Initiated with Adalimumab Plus Methotrexate Compared with Methotrexate Alone Following a Targeted Treatment Approach (2013) (3)
Erratum to: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps : (Nature Genetics, (2016), 48, 11, (1303-1312), 10.1038/ng.3668) (2018) (3)
Transcriptome-wide association study in UK biobank Europeans identifies associations with blood cell traits. (2022) (3)
Higher body mass index raises immature platelet count: potential contribution to obesity-related thrombosis (2022) (3)
Aequatus: an open-source homology browser (2016) (3)
An atlas of genetic scores to predict multi-omic traits (2022) (3)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (3)
The impact of rare and low-frequency genetic variants in common disease (2017) (3)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (2)
Genome-Wide Association Study Reveals Genetic Variants Associated with Bone Mineral Density, Osteoporosis and Osteoporotic Fractures (2008) (2)
Genetic association studies: web-based resources for effective screening and assessment of candidate genes and pathways. (2004) (2)
Colocalization analysis of pancreas eQTLs with risk loci from alcoholic and novel non-alcoholic chronic pancreatitis GWAS suggests potential disease causing mechanisms. (2022) (2)
Software Carpentry: The Unix Shell (2015) (2)
LINEAR AND NONLINEAR METHODS FOR GENE REGULATORY NETWORK INFERENCE (2007) (2)
Impact of using a personalized genome on histone ChIP-seq peak calls (2018) (2)
Purging of deleterious variants in Italian founder populations with extended autozygosity (2015) (2)
Chapter 4 – Platelet Genomics (2013) (2)
Genetic variation in Norway spruce as revealed by mapped PCR-based markers (1998) (2)
Expanding the Galaxy’s reference data (2020) (2)
Personalized and graph genomes reveal missing signal in epigenomic data (2020) (1)
Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells (2020) (1)
Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (2018) (1)
University of Groningen A Genome-Wide Screen for Interactions Reveals a New Locus on 4 p 15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol (2011) (1)
A Common Single Nucleotide Polymorphism in the Chromosome 7q22.3 Region, Which Is Frequently Deleted in Myeloid Malignancies, Is Associated with Mean Platelet Volume and Platelet Function in Healthy Individuals (2008) (1)
swcarpentry/shell-novice: Software Carpentry: the UNIX shell, June 2019 (2019) (1)
Interpreting Association Signals (2011) (1)
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2015) (1)
Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids (2014) (1)
Loci influencing blood pressure identified using a cardiovascular gene-centric array (Correction to Ganesh et al. 22 (8): 1663) (2013) (1)
Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension (2018) (1)
Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2021) (1)
Erratum: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height ((The American Journal of Human Genetics (2010) 88 (6-18)) (2012) (1)
Software Carpentry: Version Control with Git (2015) (1)
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2020) (1)
Human serum metabolic profiles are age dependent: Metabolic profiles associated with age (2012) (1)
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (2022) (1)
A Large Genome-wide Association Study of Glycated Hemoglobin Identifies Ten Common Variants not Mediated Through BMI (2009) (1)
Large scale trans-ethnic meta-analyses identify novel rare and common variants associated with blood pressure and hypertension (2016) (1)
Multidrug Resistance Gene ABCB1 Activity of the Identifying Candidate Causal Variants Responsible for Altered (2008) (1)
Simulation of the Benchmark Datasets (2013) (1)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2019) (1)
A genome-wide scan of adult human stature and skeletal size. (2008) (1)
Erratum: Whole-genome sequence-based analysis of thyroid function (2015) (1)
Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity (2015) (1)
Novel Genetic Loci Implicated in Fasting Glucose Homeostasis and Their Impact on Related Metabolic Traits (2009) (1)
Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (1)
An Expanded Genome-Wide Association Study of Fructosamine Levels Identifies RCN3 as a Replicating Locus and Implicates FCGRT as the Effector Transcript. (2021) (1)
Software Carpentry: Programming with Python (2015) (1)
Interpreting Association Signals (2011) (1)
Novel causative genes for heritable pulmonary arterial hypertension (2017) (1)
Resolving variant-to-function relationships in hematopoiesis (2019) (1)
Variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility (2019) (1)
Long-and short-term outcomes in renal allografts with deceased donors : A (2018) (0)
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension (2018) (0)
Following the dogma: molecular evolutionists move from genes to messages and proteins. (2002) (0)
Elucidating the chromatin architecture of loci associated with blood traits and coronary artery disease (2010) (0)
Resolving variant-to-function relationships in hematopoiesis (2019) (0)
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology. (2022) (0)
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation (2018) (0)
The epigenetic landscape of platelet and red blood cell traits (2013) (0)
Erratum: Ischemic stroke is associated with the ABO locus: The EuroCLOT study (2014) (0)
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome (2017) (0)
GeneSeqToFamily: the Ensembl GeneTrees pipeline as a Galaxy workflow (2016) (0)
Advisory Board and Contents (2020) (0)
Advisory Board and Contents (2020) (0)
A42 A GENOME-WIDE ASSOCIATION STUDY REVEALS A NOVEL LOCUS FOR HAND OSTEOARTHRITIS (2008) (0)
Long term conservation of human metabolic phenotypes and link to heritability (2014) (0)
Aequatus.js: a plugin to visualise gene trees in Galaxy (2019) (0)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (0)
University of Groningen A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function Porcu, (2013) (0)
Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
Correction: Identification of PLCL1 Gene for Hip Bone Size Variation in Females in a Genome-Wide Association Study (2009) (0)
S108 Genome-wide association study in chronic thromboembolic pulmonary hypertension reveals new insights into aetiology (2017) (0)
Disentangling the proteome: re-evaluations of topological insights from yeast protein interaction networks (2011) (0)
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits (2021) (0)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2018) (0)
Abstract 17360: Genome-Wide Meta-Analysis of Plasminogen Activator Inhibitor Type 1 (PAI-1) Identifies a New Locus Independent of the Serpine1 4G/5G Polymorphism (2010) (0)
the CyVerse UK cyberinfrastructure offer to support open science and FAIRness (2020) (0)
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome (2019) (0)
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2021) (0)
A bird’s-eye view of Italian genomic variation through whole-genome sequencing (2019) (0)
Supplementary Material (nature09270-s1) (2012) (0)
Discovery and visualisation of homologous genes using Galaxy (2017) (0)
Novel Associations of TNFRSF 13 B , TNFSF 13 , and ANXA 3 with Serum levels of Non-albumin Protein and Immunoglobulin Isotypes in the Japanese Population ” (2011) (0)
regulatory sequence variation at hematological trait loci restricted patterns of − Maps of open chromatin highlight cell type Material Supplemental (2013) (0)
Characterising and visualising gene families with GeneSeqToFamily and Aequatus (2018) (0)
Training data for 'From peaks to gene' tutorial (Galaxy Training Material) (2017) (0)
Whole-genome sequencing identifies non-coding variants near EN 1 with large effects on bone mineral density (2014) (0)
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
Genetic Determinants of Major Blood Lipids in Pakistan Is Compared with Europeans Running title: Saleheen et al.; Genetic loci for major lipids in Pakistan (2010) (0)
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size SORANZO (2019) (0)
Variants in the DGKB Gene Influence Fasting Glucose Levels in Populations of European and East Asian Descent (2009) (0)
Title : Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (0)
Whole-genome sequencing and deep imputation identifies non-coding variants near Engrailed-1 with large effects on bone mineral density and fracture (2015) (0)
Large Scale Discoveries of Genes and Polymorphisms Associated with Variation in Hematologic Traits (2016) (0)
Corrigendum (2009) (0)
Mechanisms of pharmacoresistance in epilepsy (2004) (0)
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis (2021) (0)
Galaxy tool shed: tool discovery and repository management (2018) (0)
A Galaxy-based training resource for single-cell RNA-seq quality control and analyses (2019) (0)
Strategies and Resources for Marker Selection and Genotyping in Genetic Association Studies (2008) (0)
Discovery and visualisation of homologous genes and gene families using Galaxy (2017) (0)
Erratum (2012) (0)
StatSeq Systems Genetics Benchmark (2012) (0)
consortiumwith hand osteoarthritis: the Treat-OA locus within the ataxin 2 binding protein 1 gene is A genome-wide association study suggests that a (2009) (0)
Aequatus-vis, a JavaScript library to visualise homologous gene families (2016) (0)
Adding Python 3 support to Galaxy: a status report (2018) (0)
Towards a systematic screen of cytoplasmic dynein-dynactin genes and other candidates for association with motor neuron degeneration disorders by tagging SNP analysis. (2005) (0)
Scripting Galaxy using the API and BioBlend (2016) (0)
On the distance to monotonicity of a biological network: A graph-theoretical approach (2009) (0)
Modeling the genome-wide transient response to stimuli in yeast: Adaptation through integral feedback (2008) (0)
Galaxy Planemo 0.35.0 (2016) (0)
Genomic atlas of the human plasma proteome (2018) (0)
reactivity in a knock-in mouse model of essential thrombocythemia JAK2V617F leads to intrinsic changes in platelet formation and (2014) (0)
Abstract 16605: Alterations of a Cellular Cholesterol Metabolism Network is a Molecular Feature of Obesity-Related Type 2 Diabetes and Cardiovascular Disease (2014) (0)
A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (0)
FUT6 deficiency compromises basophil function by selectively abrogating their sialyl-Lewis x expression (2021) (0)
Network inference from gene expression profiles : what ” physical ” network are we seeing ? ( Prokaryotes vs Eukaryotes ) (0)
Genetic loci for major lipids in Pakistan (2010) (0)
An associated interval approach for identifying candidate causal variants underlying altered activity of the ABCB1 multi-drug resistance gene. (2003) (0)
Building pangenome graphs (2023) (0)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (0)
University of Groningen Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation (2018) (0)
Whole-genome sequence-based analysis of thyroid function (vol 6, 5681, 2015) (2015) (0)
promoter in megakaryocytes near a MEIS1 binding site DNM3 A GWAS sequence variant for platelet volume marks an alternative (2013) (0)
Metabolomic Profiling of Age-Related Cataract (2012) (0)
MultiMeta: an R package for meta-analysing multi-phenotype genome-wide association studies (2015) (0)
Biomarkers of skin ageing using genome wide transcriptomics (2011) (0)
Higher body mass index raises immature platelet count: evidence from Mendelian randomization analyses (2021) (0)
Fine-mapping and colocalisation analysis of GWAS risk loci in Primary Sclerosing Cholangitis suggests role for proto-oncogene ETS2 in disease pathogenesis (2018) (0)
GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals (2019) (0)
A brief history of human disease genetics (2020) (0)
Functional Genomics Approaches to Platelet Signaling (2010) (0)
Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types (2017) (0)
GeneSeqToFamily: the Ensembl Compara GeneTrees pipeline as a Galaxy workflow (2016) (0)
M olecular B iology and E volution (2013) (0)
204Effects of adiposity on the human proteome: Mendelian randomization study using individual-level data (2021) (0)
Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (2018) (0)
Short title: Cellular cholesterol in obesity-related disease (2015) (0)
Genome-Wide Analysis Identifies Regulators of Hematologic Parameters (2010) (0)

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