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Structural variant calling: the long and the short of it. Genome Biol 20, 246 (2019).
PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience 9, (2020).
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. Front Neurol 10, 946 (2019).
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
Quantifying the regulatory effect size of -acting genetic variation using allelic fold change. Genome Res 27, 1872-1884 (2017).
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351-356 (2019).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet 100, 205-215 (2017).
Cardioembolic Stroke Risk and Recovery After Anticoagulation-Related Intracerebral Hemorrhage. Stroke 49, 2652-2658 (2018).