List of works - Kristin Abbott

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

scientific article published on 01 July 2010

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

scientific article

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

scientific article

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

scientific article published on 17 January 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

scientific article published on 11 February 2019

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

article

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

scientific article published on 16 January 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.

scientific article published on 17 May 2009

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

scientific article published on 28 June 2019

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

scientific article published on 30 July 2020

Odour signals major histocompatibility complex genotype in an Old World monkey

scientific article published on 4 August 2010

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

scientific article published on 4 November 2009

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

scientific article published on 11 May 2016

Proceptive and receptive aspects of oestrus behaviour in gilts

scientific article published on 01 April 1994

Rapid Targeted Genomics in Critically Ill Newborns.

scientific article published on 22 September 2017

Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

scientific article published on 31 October 2016

Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male

scientific article published on 08 October 2010

Testing for post-copulatory selection for major histocompatibility complex genotype in a semi-free-ranging primate population.

scientific article published on 15 May 2013

Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

scientific article published on 08 March 2018

List of works by Kristin Abbott