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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.The Journal of Allergy and Clinical Immunology|March 27, 2021
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndromeYin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesFrancis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.The New England Journal of Medicine|May 31, 2023
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory SyndromeHratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.The New England Journal of Medicine|July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.Pageof 13