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Scientific Reports|July 5, 2020
Diagnosis of cytomegalovirus infection from clinical whole genome sequencingNanda Ramchandar, Yan Ding, Lauge Farnaes, et al.Prenatal Diagnosis|February 10, 2022
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing resultsKathy Zhang-Rutledge, Mallory Owen, Nathaly M Sweeney, et al.Cold Spring Harbor Molecular Case Studies|November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhageBenjamin Briggs, Kiely N James, Shimul Chowdhury, et al.Plos One|January 26, 2023
The Genomic landscape of short tandem repeats across multiple ancestriesPrashanth Vijayaraghavan, Sergey Batalov, Yan Ding, et al.American Journal of Medical Genetics. Part A|March 22, 2021
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case reportIndira Chandrasekar, Anne Tourney, Kamela Loo, et al.Pediatrics|March 3, 2007
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate dietDavid Dimmock, Keiko Kobayashi, Mikio Iijima, et al.Journal of Clinical Immunology|April 15, 2021
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 MutationHye Sun Kuehn, Nicholas J Gloude, David Dimmock, et al.NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.Journal of Intensive Care Medicine|December 9, 2024
Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome SequencingKatherine Perofsky, Ami Doshi, Zaineb Boulil, et al.Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.Pageof 13