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1. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

2. De novo variants in the RNU4-2snRNA cause a frequent neurodevelopmental syndrome

3. Titin copy number variations associated with dominant inherited phenotypes

4. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders

5. “It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs

6. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

7. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

8. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial

9. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

10. Characterization of SETD1Ahaploinsufficiency in humans and Drosophiladefines a novel neurodevelopmental syndrome

11. RCL1copy number variants are associated with a range of neuropsychiatric phenotypes

12. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

13. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

14. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

15. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

16. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

17. Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

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