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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 28, 2013
Practical challenges in integrating genomic data into the electronic health recordAbel N Kho, Luke V Rasmussen, John J Connolly, et al.
Scientific Data|January 9, 2020
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR PanelMarco L Leung, Deborah J Watson, Courtney N Vaccaro, et al.
Journal of Neurodevelopmental Disorders|June 11, 2022
An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbiditiesIsabella Slaby, Heather S Hain, Debra Abrams, et al.
BMC Genomics|February 25, 2021
MONTAGE: a new tool for high-throughput detection of mosaic copy number variationJoseph T Glessner, Xiao Chang, Yichuan Liu, et al.
Frontiers in Genetics|March 28, 2014
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium effortsJohn J Connolly, Joseph T Glessner, Berta Almoguera, et al.
Nucleic Acids Research|October 4, 2008
Modeling genetic inheritance of copy number variationsKai Wang, Zhen Chen, Mahlet G Tadesse, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twinsTara Wenger, Dong Li, Margaret H Harr, et al.
Pharmacogenetics and Genomics|October 19, 2018
Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patientsNikita Sood, John J Connolly, Frank D Mentch, et al.
BMC Musculoskeletal Disorders|February 17, 2016
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variantAkshatha Desai, John J Connolly, Michael March, et al.
Plos One|June 10, 2020
Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defectsAnshuman Sewda, A J Agopian, Elizabeth Goldmuntz, et al.
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