Kristin M. Abbott

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

Matthew Tyreman, Kristin M. Abbott, Lionel Willatt et al. · Journal of Medical Genetics · 2009 · 158 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Patrick Deelen, Sipko van Dam, Johanna C. Herkert et al. · Nature Communications · 2019 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rapid Targeted Genomics in Critically Ill Newborns

Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman et al. · PEDIATRICS · 2017 · 149 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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

Patrick Deelen, Daria V. Zhernakova, Mark de Haan et al. · Genome Medicine · 2015 · 105 citations · Full text

Life Sciences, Bioinformatics, Genetics +14