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Neuromuscular Disorders : NMD|December 26, 2022
The discovery of the DNA methylation episignature for Duchenne muscular dystrophyLeighton Schreyer, Jack Reilly, Haley McConkey, et al.
Experimental Astronomy|July 7, 2022
A compact instrument for gamma-ray burst detection on a CubeSat platform II: Detailed design, assembly and validationDavid Murphy, Alexey Ulyanov, Sheila McBreen, et al.
Personalized Medicine|August 1, 2022
COVID-19 telehealth preparedness: a cross-sectional assessment of cardiology practices in the USACarly E Waldman, Jean H Min, Heba Wassif, et al.
Frontiers in Genetics|July 30, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based ApproachPratibha Bhai, Michael A Levy, Kathleen Rooney, et al.
The Journal of Molecular Diagnostics : JMD|July 5, 2016
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel AnalysisLaila C Schenkel, Jennifer Kerkhof, Alan Stuart, et al.
The Journal of Molecular Diagnostics : JMD|August 19, 2017
Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing PanelsJennifer Kerkhof, Laila C Schenkel, Jack Reilly, et al.
European Journal of Human Genetics : EJHG|January 7, 2022
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2024
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acidSadegheh Haghshenas, Audrey Putoux, Jack Reilly, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndromeFlorian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
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