WILLIAM CRAIGEN to Genetic Diseases, Inborn
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Genetic Diseases, Inborn.
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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).
Score: 0.130
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.105
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
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Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn. 2016 05; 18(3):446-453.
Score: 0.023