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Pediatrics|January 3, 2019
Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq ProjectIngrid A Holm, Amy McGuire, Stacey Pereira, et al.
Journal of Personalized Medicine|January 26, 2016
Information Technology Support for Clinical Genetic Testing within an Academic Medical CenterSamuel Aronson, Lisa Mahanta, Lei Lei Ros, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 16, 2016
CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?Kathryn Y Noonan, Jack Russo, Jun Shen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2021
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Catherine Rehder, Lora J H Bean, David Bick, et al.
Genome Medicine|May 29, 2020
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinicChristian R Marshall, David Bick, John W Belmont, et al.
Human Mutation|July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledgeBrianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative diseaseSameer S Chopra, Ignaty Leshchiner, Hatice Duzkale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2019
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsyHenrike O Heyne, Mykyta Artomov, Florian Battke, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 15, 2013
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisBertrand Coste, Gunnar Houge, Michael F Murray, et al.
NPJ Genomic Medicine|April 10, 2026
Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant callingJunko Tsuji, Micah Rickles-Young, Justin Abreu, et al.
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