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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 10, 2025
Long-term follow-up of children who received rapid genomic sequencingErica Sanford Kobayashi, Laura E Tobin, Madison Arenchild, et al.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.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|November 2, 2023
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recyclingMaximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, 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.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.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.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.American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.Pageof 3