Lista de obras - Kristin Abbott - Dominio Público Uruguay

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

scientific article published on 01 July 2010

A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome

artículo científico publicado en 2010

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

artículo científico publicado en 2015

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

artículo científico publicado en 2015

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations

scientific article published on 16 May 2018

Feasibility of couple-based expanded carrier screening offered by general practitioners

artículo científico publicado en 2019

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

article

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

artículo científico publicado en 2017

GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

scientific article published on 30 September 2019

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

artículo científico publicado en 2009

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

artículo científico publicado en 2019

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

artículo científico publicado en 2020

Odour signals major histocompatibility complex genotype in an Old World monkey

artículo científico publicado en 2010

Opposites attract: MHC-associated mate choice in a polygynous primate.

artículo científico publicado en 2009

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

artículo científico publicado en 2016

Proceptive and receptive aspects of oestrus behaviour in gilts

artículo científico publicado en 1994

Rapid Targeted Genomics in Critically Ill Newborns.