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NPJ Digital Medicine|January 30, 2025
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unitEdwin F Juarez, Bennet Peterson, Erica Sanford Kobayashi, et al.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
Human Mutation|January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymesJennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.
Journal of Medical Genetics|October 8, 2025
<i>ACTB</i> deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literatureMarion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
American Journal of Human Genetics|June 5, 2021
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of careDavid Dimmock, Sara Caylor, Bryce Waldman, et al.
American Journal of Human Genetics|December 6, 2024
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trialStephen F Kingsmore, Meredith Wright, Lauren Olsen, et al.
Frontiers in Cell and Developmental Biology|March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.
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