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Author Details

Kristina Iba??ez
William Harvey Research Institute, Queen Mary University of London
2013
23
16
PMIDPaper TitleJournal TitlePublished Year
36797998Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.Brain2023
37461547POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.medRxiv2023
35948990REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.Genome Med2022
33226119Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.Clin Genet2021
33758299Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.Commun Biol2021
34732400Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.BMJ2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32777174Neuronal intranuclear inclusion disease is genetically heterogeneous.Ann Clin Transl Neurol2020
30591517Somatic activating mutations in <i>PIK3CA</i> cause generalized lymphatic anomaly.J Exp Med2019
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
31007884Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer.Mol Autism2019
31134279ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.Bioinformatics2019
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
29446767CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.Genet Med2018
28074499Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.Clin Genet2017
28667284A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer.Sci Rep2017
28640240Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.Genet Med2017
25454820Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian cancer patients.Mol Oncol2015
23900790A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms.Proteins2014
25196541A new overgrowth syndrome is due to mutations in RNF125.Hum Mutat2014
24586201Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses.PLoS Genet2014
23143107ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data.Nucleic Acids Res2013
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Collaborators

Angela Del Pozo
Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Co-authored papers 8
Pablo Lapunzina
Institute of Medical and Molecular Genetics
Co-authored papers 8
Alfonso Valencia
Josep Carreras Leukaemia Research Institute (IJC)
Co-authored papers 5
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 5
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 4
Juli??n Nevado
Institute of Medical and Molecular Genetics
Co-authored papers 4
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 2
Jair Tenorio
Institute of Medical and Molecular Genetics, Hospital University La Paz
Co-authored papers 2
Michael A Eberle
Illumina Inc.
Co-authored papers 2
Ben Weisburd
Broad Institute of MIT and Harvard
Co-authored papers 2
Helen Brittain
Queen Mary University of London
Co-authored papers 2
Ellen M McDonagh
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 2
Dalia Kasperaviciute
Genomics England Ltd.
Co-authored papers 2
David R Bentley
Illumina Cambridge Ltd.
Co-authored papers 2
Ivone U S Leong
Queen Mary University of London
Co-authored papers 2
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 2
Louise C Daugherty
Queen Mary University of London, United Kingdom Healx Ltd
Co-authored papers 2
Wei Wei
University of Cambridge
Co-authored papers 2
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
Jana Vandrovcova
UCL Queen Square Institute of Neurology
Co-authored papers 2
James M Polke
National Hospital for Neurology and Neurosurgery
Co-authored papers 2
Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 2
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Charu Deshpande
Guy's Hospital
Co-authored papers 2
Augusto Rendon
Genomics England Ltd
Co-authored papers 2
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 2
Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
Co-authored papers 2
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
Dragana Josifova
Guy's and St Thomas' Hospital
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Antonio Rueda Martin
Queen Mary University of London
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