15 results on '"Genetti, Casie"'
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2. “It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs
3. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
4. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
5. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
6. Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project
7. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing
8. P645: Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series
9. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
10. P672: Long-read sequencing reveals a novel pathogenic variant in IKBKGwith associated skewed X-inactivation in affected females
11. P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
12. P410: The effect of newborn genomic screening on downstream health care utilization and costs: Evidence from the BabySeq Project*
13. P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
14. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease
15. Prevalence of Rate of Deleterious Copy Number Variants Similar in Early Onset Psychosis and Autism Spectrum Disorders: Implications for Clinical Practice
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