List of works by Mariona Bustamante

A Genome-Wide Association Study of Attention Function in a Population-Based Sample of Children

scientific article

A Haplotype-Based Analysis of theLRP5Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women

article

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity

scientific article published on 20 February 2014

A genome-wide association meta-analysis identifies new childhood obesity loci

scientific article

A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.

scientific article

A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women.

scientific article

A novel common variant in DCST2 is associated with length in early life and height in adulthood

scientific article published on 3 October 2014

A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).

scientific article

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019

Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.

scientific article published in July 2010

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

scientific article

Association of early-life exposure to household gas appliances and indoor nitrogen dioxide with cognition and attention behavior in preschoolers.

scientific article published on 24 April 2009

Author Correction: Validating a breast cancer score in Spanish women. The MCC-Spain study

scientific article published on 01 April 2020

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

article

CYP3A genes and the association between prenatal methylmercury exposure and neurodevelopment

scientific article published on 9 May 2017

Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder

scientific article

Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk

scientific article published on 5 March 2018

Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium

scientific article published on 13 September 2017

Colorectal Cancer and Disinfection Byproducts in Italy and Spain

article

Comparison of smoking-related DNA methylation between newborns from prenatal exposure and adults from personal smoking

scientific article published on 19 September 2019

Correction: Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study

scientific article published on 30 May 2006

Corrigendum to ‘Genome-wide copy number variation analysis in adult Attention-Deficit and Hyperactivity Disorder’ [J Psychiatr Res 49 (2014) 60–67]

scholarly article published in Journal of Psychiatric Research

Corrigendum: Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study

scientific article published on 17 May 2017

DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis

scientific article published on 30 March 2016

DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood

scientific article

DNA methylation and body mass index from birth to adolescence: meta-analyses of epigenome-wide association studies

scientific article published on 25 November 2020

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

scientific article published on 26 February 2018

DNA methylation levels and long-term trihalomethane exposure in drinking water: an epigenome-wide association study

scientific article

Dietary benzo(a)pyrene and fetal growth: effect modification by vitamin C intake and glutathione S-transferase P1 polymorphism

scientific article published on 05 May 2012

Differential Genetic Effects of ESR1 Gene Polymorphisms on Osteoporosis Outcomes

scientific article published in The Journal of the American Medical Association

Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome

scientific article published on 16 September 2019

Drinking Water Disinfection By-products, Genetic Polymorphisms, and Birth Outcomes in a European Mother-Child Cohort Study

scientific article published on 27 July 2016

Early life environment, neurodevelopment and the interrelation with atopy

scientific article

Epigenome-Wide Meta-Analysis of Methylation in Children Related to Prenatal NO2 Air Pollution Exposure

scientific article published on 22 July 2016

Epigenome-wide meta-analysis of DNA methylation and childhood asthma

scientific article published in December 2018

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

scientific article published on 02 March 2020

Fruit and vegetable intake and vitamin C transporter gene (SLC23A2) polymorphisms in chronic lymphocytic leukaemia

scientific article published on 2 February 2016

Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation.

scientific article published on December 2005

Gene expression changes in blood RNA after swimming in a chlorinated pool.

scientific article published on 16 May 2017

Gene expression of desaturase (FADS1 and FADS2) and Elongase (ELOVL5) enzymes in peripheral blood: association with polyunsaturated fatty acid levels and atopic eczema in 4-year-old children.

scientific article

Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder.

scientific article

Genetic and epigenetic regulation of YKL-40 in childhood

scientific article

Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition

scientific article

Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy

scientific article

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.

scientific article

Genome-wide associations for birth weight and correlations with adult disease

scientific article

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

scientific article

Genotoxic effects in swimmers exposed to disinfection by-products in indoor swimming pools

scientific article

Green spaces, excess weight and obesity in Spain

scientific article published on 01 November 2019

Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE Consortium

scientific article published on 19 August 2016

Human Early Life Exposome (HELIX) study: a European population-based exposome cohort

scientific article published on 10 September 2018

Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children’s blood

scientific article published in 2022

In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children

scientific article published on 19 August 2020

In utero exposure to mixtures of xenoestrogens and child neuropsychological development

scientific article published in August 2014

In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs

scientific article

Indoor air pollution from gas cooking and infant neurodevelopment

scientific article published in January 2012

Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes

scientific article published on 07 June 2012

Interaction between airborne copper exposure and ATP7B polymorphisms on inattentiveness in scholar children

scientific article

Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study

scientific article published on 3 December 2007

Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study

scientific article

Male specific association between xenoestrogen levels in placenta and birthweight.

scientific article published on 21 December 2012

Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium

scientific article published on October 2017

Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring

scientific article published on 25 October 2010

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

scientific article published on 01 May 2019

Mendelian randomization analysis rules out disylipidaemia as colorectal cancer cause

scientific article published on 16 September 2019

Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight

article

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

scientific article published on 19 October 2015

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder

scientific article published on 14 July 2015

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

scientific article published on 12 October 2020

Placental DNA methylation signatures of maternal smoking during pregnancy and potential impacts on fetal growth

scientific article published on 24 August 2021

Planning the human variome project: the Spain report.

scientific article published in April 2009

Polygenic risk for ADHD and ASD and their relation with cognitive measures in school children

scientific article published on 14 September 2020

Polymorphisms in ABC transporter genes and concentrations of mercury in newborns--evidence from two Mediterranean birth cohorts

scientific article

Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women

article

Prenatal Ambient Air Pollution, Placental Mitochondrial DNA Content, and Birth Weight in the INMA (Spain) and ENVIRONAGE (Belgium) Birth Cohorts

scientific article published on 25 August 2015

Prenatal Particulate Air Pollution and DNA Methylation in Newborns: An Epigenome-Wide Meta-Analysis

scientific article published on 31 May 2019

Prenatal and Childhood Traffic-Related Air Pollution Exposure and Telomere Length in European Children: The HELIX Project

scientific article published on 08 August 2019

Prenatal co-exposure to neurotoxic metals and neurodevelopment in preschool children: The Environment and Childhood (INMA) Project.

scientific article published on 27 November 2017

Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta.

scientific article published on 18 December 2015

Prenatal exposure to mixtures of xenoestrogens and repetitive element DNA methylation changes in human placenta

scientific article

Promoter 2 -1025 T/C Polymorphism in the RUNX2 Gene Is Associated with Femoral Neck BMD in Spanish Postmenopausal Women

article

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

scientific article published on 16 November 2021

Rhinitis associated with asthma is distinct from rhinitis alone: The <scp>ARIA‐MeDALL</scp> hypothesis

scientific article published in 2023

Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study.

scientific article published on 24 February 2017

Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease

scientific article

Shared DNA methylation signatures in childhood allergy: the MeDALL study

scientific article published on 15 December 2020

Short-term changes in respiratory biomarkers after swimming in a chlorinated pool

scientific article

Storage conditions and stability of global DNA methylation in placental tissue

scientific article

The acute effects of ultraviolet radiation on the blood transcriptome are independent of plasma 25OHD3.

scientific article

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

scientific article published in 2021

The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis

scientific article

The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

scientific article published on 12 May 2022

The emerging landscape of dynamic DNA methylation in early childhood

scientific article

The human early-life exposome (HELIX): project rationale and design ⬇️

scientific article (publication date: June 2014)

Urinary metabolite quantitative trait loci in children and their interaction with dietary factors

scientific article published in 2020

Using methylome data to inform exposome-health association studies: An application to the identification of environmental drivers of child body mass index

scientific article published on 14 March 2020

Validating a breast cancer score in Spanish women. The MCC-Spain study

scientific article published on 14 February 2018

Variability of multi-omics profiles in a population-based child cohort

scientific article published on 22 July 2021

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

article

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

scientific article published on 02 September 2019

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