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Author Details

Angela Del Pozo
Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
2008
43
17
PMIDPaper TitleJournal TitlePublished Year
36661516<i>OPA1</i> Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.Curr Issues Mol Biol2023
37958660Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.Int J Mol Sci2023
37511188Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.Int J Mol Sci2023
36083290Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.Genet Med2022
35457050Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.Int J Mol Sci2022
35779070Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.Am J Med Genet A2022
33305909Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.Am J Med Genet A2021
33618039Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.Eur J Med Genet2021
33923544Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.Genes (Basel)2021
33863366A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.Genome Biol2021
33863344Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.Genome Biol2021
34500087Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.Eur J Med Genet2021
34516402High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.Eur J Endocrinol2021
34065151Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus.Genes (Basel)2021
33226119Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.Clin Genet2021
32311039Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.J Clin Endocrinol Metab2020
32808430Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.Am J Med Genet A2020
30591517Somatic activating mutations in <i>PIK3CA</i> cause generalized lymphatic anomaly.J Exp Med2019
31120642Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.Am J Med Genet A2019
30625039PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.J Clin Oncol2019
28892148mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.Clin Genet2018
30591955Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of <i>TBL1X</i>.J Endocr Soc2018
29446767CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.Genet Med2018
29464738Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.Clin Endocrinol (Oxf)2018
29408330New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.J Allergy Clin Immunol2018
28571903Next generation sequencing in the diagnosis of Stargardt's disease.Arch Soc Esp Oftalmol (Engl Ed)2018
28074499Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.Clin Genet2017
28116244A new variant in <i>PHKA2</i> is associated with glycogen storage disease type IXa.Mol Genet Metab Rep2017
28730625FGF9 mutation causes craniosynostosis along with multiple synostoses.Hum Mutat2017
28640240Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.Genet Med2017
28067412Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Clin Genet2017
26991965Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.Am J Med Genet A2016
28116328Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.Mol Genet Genomic Med2016
26374189Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.Am J Med Genet A2016
27604469An expanded evaluation of protein function prediction methods shows an improvement in accuracy.Genome Biol2016
26061177Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level.PLoS Comput Biol2015
26496066The potential clinical impact of the release of two drafts of the human proteome.Expert Rev Proteomics2015
25196541A new overgrowth syndrome is due to mutations in RNF125.Hum Mutat2014
24289158wKinMut: an integrated tool for the analysis and interpretation of mutations in human protein kinases.BMC Bioinformatics2013
22588898Chimeras taking shape: potential functions of proteins encoded by chimeric RNA transcripts.Genome Res2012
22759651Prioritization of pathogenic mutations in the protein kinase superfamily.BMC Genomics2012
22446687Comparative proteomics reveals a significant bias toward alternative protein isoforms with conserved structure and function.Mol Biol Evol2012
18221506Defining functional distances over gene ontology.BMC Bioinformatics2008
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Collaborators

Pablo Lapunzina
Institute of Medical and Molecular Genetics
Co-authored papers 14
Kristina Iba??ez
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 8
Alfonso Valencia
Josep Carreras Leukaemia Research Institute (IJC)
Co-authored papers 8
Juli??n Nevado
Institute of Medical and Molecular Genetics
Co-authored papers 7
Michael L Tress
Spanish National Cancer Research Centre (CNIO)
Co-authored papers 6
Wendell D Jones
Department of Bioinformatics and Clinical Systems
Co-authored papers 2
Zhichao Liu
Co-authored papers 2
Simon Cawley
Clinical Sequencing Division
Co-authored papers 2
Jonathan Foox
Co-authored papers 2
Jos?? Manuel Rodr??guez
Campus Universitario
Co-authored papers 2
Todd A Richmond
Co-authored papers 2
Anne Bergstrom Lucas
Co-authored papers 2
Jair Tenorio
Institute of Medical and Molecular Genetics, Hospital University La Paz
Co-authored papers 2
Rebecca Kusko
Immuneering Corporation
Co-authored papers 2
James C Willey
Co-authored papers 2
Joshua Xu
Co-authored papers 2
Quan-Zhen Li
Co-authored papers 2
Wenzhong Xiao
Stanford University
Co-authored papers 2
Sayed Mohammad Ebrahim Sahraeian
Roche Sequencing Solutions Inc.
Co-authored papers 2
Miguel Vazquez
Norwegian University of Science and Technology
Co-authored papers 2
Marco Chierici
Fondazione Bruno Kessler
Co-authored papers 2
Pierre R Bushel
Co-authored papers 2
Zhining Wen
Co-authored papers 2
Wenjun Bao
SAS Institute Inc Cary
Co-authored papers 2
Ming Shi
Co-authored papers 2
Guiomar Perez de Nanclares
Bioaraba Health Research Institute, Araba University Hospital
Co-authored papers 2
Andreas Scherer
Institute for Molecular Medicine Finland (FIMM), University of Helsinki
Co-authored papers 2
Zhiguang Li
Co-authored papers 2
Tieliu Shi
Co-authored papers 2
Weida Tong
National Center for Toxicological Research
Co-authored papers 2
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