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List of works by Kristina Ibanez

A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms.

scientific article published on 10 September 2013

A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer

scientific article

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

scientific article published on 15 February 2018

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data.

scientific article

Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian cancer patients.

scientific article published on 5 October 2014

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

scientific article published on 01 November 2019

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

scientific article published on 11 January 2017

Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses

scientific article (publication date: February 2014)

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

scientific article published on 09 January 2019

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

scientific article published on 22 June 2017

Somatic activating mutations in cause generalized lymphatic anomaly

scientific article published on 27 December 2018

Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

article

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017

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