Edward Lose

Edward Lose
Clinical Assistant Professor

Assistant Professor - Clinical (P), Pediatric - Emergency Medicine , Pediatrics

Selected Publications

Academic Article

Year	Title	Altmetric
2021	The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life. AJOB 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 participants. Genetics in Medicine. 20:1635-1643. 2018
2018	Schaaf-Yang syndrome overview: Report of 78 individuals. American 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 testing. Genetics in Medicine. 19:377-385. 2017
2017	Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary Results. Genetics in Medicine. 19:337-344. 2017
2017	Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. American Journal of Human Genetics. 100:117-127. 2017
2017	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature 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 States. Molecular Genetics and Metabolism. 116:139-145. 2015
2011	BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Human 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 disorders. American Journal of Medical Genetics Part A. 155:2386-2396. 2011
2009	Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication. American Journal of Medical Genetics Part A. 149:1516-1522. 2009
2009	AsktheGeneticist^SM: Five years of online experience. Genetics in Medicine. 11:294-304. 2009
2008	The emerging role of primary care in genetics. Current 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 delay. American Journal of Medical Genetics Part A. 146:421-425. 2008
2007	Caring for adults with pediatric genetic diseases: A growing need. Current Opinion in Pediatrics. 19:611-612. 2007

Principal Investigator On

Healthcare Supervision for Patients with Down Syndrome awarded by UNIVERSITY OF ALABAMA HEALTH SERVICES FOUNDATION

Investigator On

DNA Sequencing for Newborn Nurseries in the South awarded by HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY

Genomic Diagnosis in Children with Developmental Delay: South-seq: DNA Sequencing for Newborn Nurseries in the South awarded by HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY

Private Grant awarded by BIOMARIN PHARMACEUTICAL, INC.

Education And Training

Doctor of Medicine, University of South Alabama 1984

Full Name

Edward Lose