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Author Details

Berta Almoguera
Center for Biomedical Research in Rare Diseases Network
2010
52
19
PMIDPaper TitleJournal TitlePublished Year
36375449Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study.Andrology2023
37761804Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review.Genes (Basel)2023
36719180Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.Clin Genet2023
36747006The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.Eur J Hum Genet2023
35087072An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.NPJ Genom Med2022
35708486Novel genes and sex differences in COVID-19 severity.Hum Mol Genet2022
35908153The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.Clin Genet2022
36357507Five years' experience of the clinical exome sequencing in a Spanish single center.Sci Rep2022
35955564Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.Int J Mol Sci2022
34068396Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a Review.Genes (Basel)2021
33767182Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.NPJ Genom Med2021
33623043Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.NPJ Genom Med2021
33707547Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.Sci Rep2021
33662370IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts.J Allergy Clin Immunol2021
34573342Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.Genes (Basel)2021
34712904High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease.Access Microbiol2021
31447229CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.Int J Cardiol2020
33058233Genome-wide association analysis of psoriasis patients treated with anti-TNF drugs.Exp Dermatol2020
32226016Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.PLoS Genet2020
30414857Novel locus for atopic dermatitis in African Americans and replication in European Americans.J Allergy Clin Immunol2019
31070779Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.Acta Neurol Scand2019
29847639Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.Invest Ophthalmol Vis Sci2018
29967039Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at <i>PLEKHG1</i>.Hypertension2018
27611488Identification of Four Novel Loci in Asthma in European American and African American Populations.Am J Respir Crit Care Med2017
28192796Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.Invest Ophthalmol Vis Sci2017
28502727Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.J Mol Diagn2017
26857349Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network.Clin Pharmacol Ther2016
27554823Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma.J Allergy Clin Immunol2016
26861312Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.Int J Mol Sci2016
26746457Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.JAMA2016
24474739Mendelian randomization of blood lipids for coronary heart disease.Eur Heart J2015
26197217Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.PLoS One2015
24144451Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.Ophthalmology2014
25491489Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Orphanet J Rare Dis2014
24808909Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.Front Genet2014
24860591Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.Front Genet2014
24960519Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems.Clin Pharmacol Ther2014
24560520Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.Am J Hum Genet2014
24618335Transplantation genetics: current status and prospects.Am J Transplant2014
24672537Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.Front Genet2014
24462370Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.Am J Hum Genet2014
22212732Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population.Pharmacogenomics J2013
24040389IBC CARe microarray allelic population prevalences in an American Indian population.PLoS One2013
24026091CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment.Pharmacogenet Genomics2013
21821846Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients.Eur Heart J2012
23063622Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.Am J Hum Genet2012
21658228ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.BMC Med Genet2011
21552474Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.Mol Vis2011
20108395Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).Hum Genet2010
20108431Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.Hum Genet2010
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Collaborators

Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 19
Brendan J Keating
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 12
John J Connolly
Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 10
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 9
Patrick M A Sleiman
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 9
Iftikhar J Kullo
Mayo Clinic
Co-authored papers 6
David R Crosslin
University of Washington Medical Center
Co-authored papers 6
Eric B Larson
University of Washington
Co-authored papers 5
Laura J Rasmussen-Torvik
Northwestern University, Center for Genetic Medicine
Co-authored papers 5
Frank D Mentch
Center for Applied Genomics (CAG), Children's Hospital of Philadelphia
Co-authored papers 5
Marylyn D Ritchie
Center for Systems Genomics, Pennsylvania State University, University Park
Co-authored papers 5
Murray H Brilliant
Marshfield Clinic Research Institute
Co-authored papers 5
Sarah C Stallings
Vanderbilt University Medical Center
Co-authored papers 4
Marc S Williams
University of Washington Medical Center
Co-authored papers 4
John B Harley
US Department of Veterans Affairs Medical Center
Co-authored papers 4
Yvonne T van der Schouw
Co-authored papers 4
Pablo Lapunzina
Institute of Medical and Molecular Genetics
Co-authored papers 4
Stuart A Scott
Stanford University
Co-authored papers 4
Adrián Llerena
Co-authored papers 4
Alexander P Reiner
Co-authored papers 4
Yiran Guo
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Co-authored papers 4
Adam S Gordon
Northwestern University Feinberg School of Medicine.
Co-authored papers 4
Paul I W de Bakker
Vertex Pharmaceuticals
Co-authored papers 4
Myriam Fornage
Co-authored papers 4
Juan P Casas
Co-authored papers 4
Susan Redline
Brigham and Women's Hospital
Co-authored papers 4
David S Carrell
Kaiser Permanente Washington Health Research Institute
Co-authored papers 4
Dan M Roden
Vanderbilt University Medical Center
Co-authored papers 4
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 4
Clara C Elbers
Co-authored papers 4
Release 1.2