Katerina Kucera

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A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early check implementation

Age-related blood levels of creatine kinase-MM in newborns and patients with Duchenne muscular dystrophy: Considerations for the development of newborn screening algorithms

P536: Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy

Two years of newborn screening for Duchenne Muscular Dystrophy as a part of the statewide Early Check research program in North Carolina

Improved dried blood spot PCR assay for universal congenital cytomegalovirus screening in newborns

Multi-laboratory evaluation of prototype dried blood spot quality control materials for creatine kinase-mm newborn screening assays

P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina:: Results from Early Check*

Evaluation of the GSP creatine kinase-MM assay and assessment of CK-MM stability in newborn, patient, and contrived dried blood spots for newborn screening for Duchenne muscular dystrophy

Screening for Duchenne and related muscular dystrophies in North Carolina through the early check newborn screening pilot study

A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from early check

Correction to 'Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits'

Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits

Toward robust functional neuroimaging genetics of cognition

Rare variants in axonogenesis genes connect three families with sound-color synesthesia

Effects of sequence variation on differential allelic transcription factor occupancy and gene expression

Allele-specific distribution of RNA polymerase II on female X chromosomes

Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation

Heritable individual-specific and allele-specific chromatin signatures in humans

Callipyge mutation affects gene expression in cis: A potential role for chromatin structure

Protein phosphatase 5 is required for ATR-mediated checkpoint activation