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Author Details

Xavier Estivill
Sidra Medical Center
1983
639
100
PMIDPaper TitleJournal TitlePublished Year
34498682Genome sequencing data analysis for rare disease gene discovery.Brief Bioinform2022
36121467The serotonin receptor 3E variant is a risk factor for female IBS-D.J Mol Med (Berl)2022
36411288Multi-omics signatures of the human early life exposome.Nat Commun2022
35302492Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.Elife2022
34498682Genome sequencing data analysis for rare disease gene discovery.Brief Bioinform2022
35169154A population study of clinically actionable genetic variation affecting drug response from the Middle East.NPJ Genom Med2022
35087123Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.Sci Rep2022
35348702Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.Hum Mol Genet2022
35328790Functional Characterization of the <i>MYO6</i> Variant p.E60Q in Non-Syndromic Hearing Loss Patients.Int J Mol Sci2022
35348702Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.Hum Mol Genet2022
36411288Multi-omics signatures of the human early life exposome.Nat Commun2022
36121467The serotonin receptor 3E variant is a risk factor for female IBS-D.J Mol Med (Berl)2022
35087123Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.Sci Rep2022
35328790Functional Characterization of the <i>MYO6</i> Variant p.E60Q in Non-Syndromic Hearing Loss Patients.Int J Mol Sci2022
35302492Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.Elife2022
35169154A population study of clinically actionable genetic variation affecting drug response from the Middle East.NPJ Genom Med2022
32703790Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas.Haematologica2021
32064741Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.Addict Biol2021
34289836Variability of multi-omics profiles in a population-based child cohort.BMC Med2021
34165249The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome.J Cell Mol Med2021
34137518Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.Mol Genet Genomic Med2021
32703790Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas.Haematologica2021
34428338Actionable genomic variants in 6045 participants from the Qatar Genome Program.Hum Mutat2021
34428338Actionable genomic variants in 6045 participants from the Qatar Genome Program.Hum Mutat2021
34289836Variability of multi-omics profiles in a population-based child cohort.BMC Med2021
34165249The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome.J Cell Mol Med2021
34137518Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.Mol Genet Genomic Med2021
32064741Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.Addict Biol2021
32811491In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children.BMC Med2020
33381478Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.Front Pediatr2020
32811491In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children.BMC Med2020
32671674Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.J Clin Immunol2020
33381478Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.Front Pediatr2020
32671674Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.J Clin Immunol2020
30582445PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.Circ Res2019
31840077GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI.Sci Adv2019
31583916Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus.Epigenomics2019
30353964Allele balance bias identifies systematic genotyping errors and false disease associations.Hum Mutat2019
30582445PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.Circ Res2019
30238381Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis.Clin Rheumatol2019
30634628The Circulating Transcriptome as a Source of Biomarkers for Melanoma.Cancers (Basel)2019
30872671Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.Sci Rep2019
30738969Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.Gene2019
30850646Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.Nat Commun2019
31840077GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI.Sci Adv2019
30238381Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis.Clin Rheumatol2019
31583916Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus.Epigenomics2019
30738969Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.Gene2019
30850646Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.Nat Commun2019
30872671Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.Sci Rep2019
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Joachim Heinrich
Institute and Clinic for Occupational, University Hospital
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The Center for Applied Genomics, Children's Hospital of Philadelphia
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Carlos L??pez-Ot??n
Instituto Universitario de Oncologia, Universidad de Oviedo
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Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
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Release 1.2