Selected Publications

Academic Article

Year Title Altmetric
2021 The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible LifeAJOB empirical bioethics.  12:179-189. 2021
2019 Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion)Molecular Genetics and Genomic Medicine.  7. 2019
2018 Genomic sequencing identifies secondary findings in a cohort of parent study participantsGenetics in Medicine.  20:1635-1643. 2018
2018 Schaaf-Yang syndrome overview: Report of 78 individualsAmerican Journal of Medical Genetics Part A.  176:2564-2574. 2018
2018 Systematic reanalysis of genomic data improves quality of variant interpretation 2018
2017 Genomic diagnosis for children with intellectual disability and/or developmental delay 2017
2017 Clinical relevance of small copy-number variants in chromosomal microarray clinical testingGenetics in Medicine.  19:377-385. 2017
2017 Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary ResultsGenetics in Medicine.  19:337-344. 2017
2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismAmerican Journal of Human Genetics.  100:117-127. 2017
2017 The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesNature Genetics.  49:36-45. 2017
2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMolecular Genetics and Metabolism.  116:139-145. 2015
2011 BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndromeHuman Genetics.  130:495-504. 2011
2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disordersAmerican Journal of Medical Genetics Part A.  155:2386-2396. 2011
2009 Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplicationAmerican Journal of Medical Genetics Part A.  149:1516-1522. 2009
2009 AsktheGeneticistSM: Five years of online experienceGenetics in Medicine.  11:294-304. 2009
2008 The emerging role of primary care in geneticsCurrent Opinion in Pediatrics.  20:634-638. 2008
2008 Advances in genetic testing and applications in newborn medicine 2008
2008 The use by alabama pediatricians of genetics consultation in the evaluation of developmental delayAmerican Journal of Medical Genetics Part A.  146:421-425. 2008
2007 Caring for adults with pediatric genetic diseases: A growing needCurrent Opinion in Pediatrics.  19:611-612. 2007

Education And Training

  • Doctor of Medicine, University of South Alabama 1984
  • Full Name

  • Edward Lose