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NPJ Genomic Medicine|July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesMichelle M Clark, Zornitza Stark, Lauge Farnaes, et al.Cold Spring Harbor Molecular Case Studies|February 14, 2018
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1Erica Sanford, Kelly Watkins, Shareef Nahas, et al.Clinical Case Reports|December 3, 2019
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancySejal Kadakia, Lauge Farnaes, David Dimmock, et al.Journal of Inherited Metabolic Disease|July 5, 2023
Genomic newborn screening: Are we entering a new era of screening?Ute Spiekerkoetter, David Bick, Richard Scott, et al.American Journal of Medical Genetics. Part A|February 9, 2020
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?Conor I MacKay, David Bick, Jeremy W Prokop, et al.Molecular Genetics and Metabolism|June 25, 2013
Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemiasUta Lichter-Konecki, Vinay Nadkarni, Asha Moudgil, et al.Pediatric Pulmonology|December 3, 2020
Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive populationChelsea Gatcliffe, Aparna Rao, Matthew Brigger, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 22, 2020
An online compendium of treatable genetic disordersDavid Bick, Sarah L Bick, David P Dimmock, et al.Cold Spring Harbor Molecular Case Studies|October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisErica Sanford, Marilyn C Jones, Matthew Brigger, et al.The Journal of Pediatrics|June 1, 2023
Neuropsychiatric Function Improvement in Pediatric Patients with PhenylketonuriaMitzie L Grant, Elaina R Jurecki, Shawn E McCandless, et al.Pageof 13