Tyler N. Kruer
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View article: Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy Open
Cerebral palsy (CP) is a neurodevelopmental disorder of motor function, with genetic etiologies, particularly de novo variants, identified in approximately one-third of cases. The contribution of consanguinity – long-recognized as a CP ris…
View article: Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies
Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies Open
Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant comprehension and satisfaction with traditional face-to-face approaches. In parallel, interest in electronic consents for clin…
View article: Damaging de novo missense variants in<i>EEF1A2</i>lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy
Damaging de novo missense variants in<i>EEF1A2</i>lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy Open
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heter…