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Neoreviews|March 1, 2024
A Practical Guide to Whole Genome Sequencing in the NICUKatelyn Seither, Whitney Thompson, Kristen Suhrie
Molecular Genetics & Genomic Medicine|April 11, 2020
Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndromeAmelle Shillington, Ernest Pedapati, Robert Hopkin, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|February 19, 2022
Detection and impact of genetic disease in a level IV neonatal intensive care unitLeanne Hagen, Divya Khattar, Katie Whitehead, et al.
Molecular Genetics & Genomic Medicine|September 16, 2021
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteriesAmelle Shillington, Alonso Zea Vera, Tanya Perry, et al.
Prenatal Diagnosis|January 24, 2026
Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing PotentialAllison Schartman, Olivia Woods, Leah Wetherill, et al.
Pediatrics|June 25, 2025
Standardized Criteria for Genomic Testing in the NICUBenjamin M Helm, Matthew Hays, Kayleigh A Swaggart, et al.
The Journal of Pediatrics|May 18, 2023
The Potential Impact of Preemptive Pharmacogenetic Genotyping in the Neonatal Intensive Care UnitKatherine A Gallaway, Kayla Cann, Katherine Oetting, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
Provision and availability of genomic medicine services in Level IV neonatal intensive care unitsMonica H Wojcik, Katharine P Callahan, Austin Antoniou, et al.
The Journal of Pediatrics|November 11, 2018
Neonatal Lung Disease Associated with TBX4 MutationsKristen Suhrie, Nathan M Pajor, Shawn K Ahlfeld, et al.
JAMA Pediatrics|February 15, 2021
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) StudyJill L Maron, Stephen F Kingsmore, Kristen Wigby, et al.
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