Edward J Lose, MD

1. Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet A. 2011 Oct;155A(10):2386-96. 2. Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011 Oct;130(4):495-504. 3. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States Reference: YMGME5945 4. Chen MJ, Holt CL, Lose EJ, Robin NH. The Use By Alabama Pediatricians of Genetics Consultation in the Evaluation of Developmental Delay. American Journal of Medical Genetics Part A 146A, 2008 5. Lose EJ, Robin NH. Caring for Adults with Pediatric Genetic Diseases: a Growing Need. Current Opinion in Pediatrics 2007.