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| 36927505 | Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning. | Genome Med | 2023 |
| 37987476 | NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. | Int J Neonatal Screen | 2023 |
| 37085539 | 3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. | Nat Commun | 2023 |
| 37077433 | Isolated Absent Aortic Valves: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation. | JACC Case Rep | 2023 |
| 37267897 | Response to Grosse et al. | Am J Hum Genet | 2023 |
| 37432431 | Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. | JAMA | 2023 |
| 36999085 | Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system. | Front Pediatr | 2023 |
| 37429778 | Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining. | Clin Ther | 2023 |
| 36788231 | Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots. | NPJ Genom Med | 2023 |
| 36651673 | Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. | Am J Med Genet A | 2023 |
| 36691939 | Are we prepared to deliver gene-targeted therapies for rare diseases? | Am J Med Genet C Semin Med Genet | 2023 |
| 36701310 | The Genomic landscape of short tandem repeats across multiple ancestries. | PLoS One | 2023 |
| 36757698 | Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing. | JAMA Netw Open | 2023 |
| 35141181 | Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit. | Front Pediatr | 2022 |
| 35411350 | Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission. | medRxiv | 2022 |
| 35676073 | The Role of Genome Sequencing in Neonatal Intensive Care Units. | Annu Rev Genomics Hum Genet | 2022 |
| 35798029 | Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission. | Nature | 2022 |
| 35882841 | An automated 13.5â¿¿hour system for scalable diagnosis and acute management guidance for genetic diseases. | Nat Commun | 2022 |
| 36007526 | A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. | Am J Hum Genet | 2022 |
| 35217563 | 2022: a pivotal year for diagnosis and treatment of rare genetic diseases. | Cold Spring Harb Mol Case Stud | 2022 |
| 34852708 | Maternal, infant, and environmental risk factors for sudden unexpected infant deaths: results from a large, administrative cohort. | J Matern Fetal Neonatal Med | 2022 |
| 35141907 | Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results. | Prenat Diagn | 2022 |
| 34089648 | Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. | Am J Hum Genet | 2021 |
| 33587123 | 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) Study. | JAMA Pediatr | 2021 |
| 33888711 | Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. | NPJ Genom Med | 2021 |
| 34645491 | Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. | Genome Med | 2021 |
| 34429451 | Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. | Sci Rep | 2021 |
| 34390697 | Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation. | J Pediatr | 2021 |
| 34449988 | Perspectives of Pediatric Providers Regarding Clinical Use of Pharmacogenetics. | S D Med | 2021 |
| 34077649 | Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. | N Engl J Med | 2021 |
| 33938716 | Discriminating Bacterial and Viral Infection Using a Rapid Host Gene Expression Test. | Crit Care Med | 2021 |
| 34039997 | Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. | NPJ Genom Med | 2021 |
| 34039980 | Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. | NPJ Genom Med | 2021 |
| 34117075 | Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. | Cold Spring Harb Mol Case Stud | 2021 |
| 34007000 | One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation. | Genet Med | 2021 |
| 32843431 | Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of <i>WT1</i>-associated nephrotic syndrome type 4. | Cold Spring Harb Mol Case Stud | 2020 |
| 32014857 | Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. | Cold Spring Harb Mol Case Stud | 2020 |
| 33028643 | Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis. | Cold Spring Harb Mol Case Stud | 2020 |
| 33157008 | A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants. | Am J Hum Genet | 2020 |
| 33154820 | Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. | NPJ Genom Med | 2020 |
| 32609850 | Commentary. | Clin Chem | 2020 |
| 32768470 | Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units? | J Pediatr | 2020 |
| 32620939 | Diagnosis of cytomegalovirus infection from clinical whole genome sequencing. | Sci Rep | 2020 |
| 32847406 | Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease. | Circ Genom Precis Med | 2020 |
| 30755602 | Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. | Nat Commun | 2019 |
| 31788263 | Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy. | Clin Case Rep | 2019 |
| 31839987 | FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. | NPJ Genom Med | 2019 |
| 31246743 | Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. | Pediatr Crit Care Med | 2019 |
| 31624069 | Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastoma. | Cold Spring Harb Mol Case Stud | 2019 |
| 31196892 | Neonatal diabetes mellitus due to a novel variant in the <i>INS</i> gene. | Cold Spring Harb Mol Case Stud | 2019 |