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European Urology Focus|April 15, 2022
What Is a Variant of Uncertain Significance in Genetic Testing?Piper Nicolosi, Brandie Heald, Edward D Esplin
Pharmacogenomics|December 11, 2014
Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of diseaseEdward D Esplin, Ling Oei, Michael P Snyder
American Journal of Medical Genetics. Part A|April 25, 2013
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndromeClaudia Algaze, Edward D Esplin, Alexander Lowenthal, et al.
Genes, Chromosomes & Cancer|November 9, 2005
The glycine 90 to aspartate alteration in the Abeta subunit of PP2A (PPP2R1B) associates with breast cancer and causes a deficit in protein functionEdward D Esplin, Purita Ramos, Bobbie Martinez, et al.
Annals of Surgical Oncology|August 3, 2017
Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer RiskErin O'Leary, Daniela Iacoboni, Jennifer Holle, et al.
Gynecologic Oncology|June 12, 2022
Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancerBrandie Heald, Sara Mokhtary, Sarah M Nielsen, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactylyEdward D Esplin, Hassan Chaib, Michael Haney, et al.
American Journal of Medical Genetics. Part A|May 8, 2014
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomaliesEdward D Esplin, Ben Li, Anne Slavotinek, et al.
Breast Cancer Research and Treatment|September 12, 2022
Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysisYael Laitman, Sarah M Nielsen, Rinat Bernstein-Molho, et al.
Frontiers in Genetics|July 5, 2022
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among RelativesTara J Schmidlen, Sara L Bristow, Kathryn E Hatchell, et al.
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