Back to Main

Faculty Detail    
Campus Address KAUL 210 Zip 0024
Phone  205-934-4983
Other websites

Undergraduate  Spring Hill College    1980  BS Dual Major in Chemistry and Mathematics 
Medical School  University of South Alabama College of Medicine    1984  MD 
Residency  University of Texas Southwestern Medical School    1988  Pediatric Residency/Chief Resident 
Fellowship  Stanford University     1989  Fellowship in Developmental Biology 
Fellowship  Harvard University Combined Genetics     1993  Clinical Genetics 

Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Genetics   Clinical Genetics Assistant Professor
Secondary  Pediatrics   Ped - General Pediatrics Assistant Professor

Graduate Biomedical Sciences Affiliations
Integrative Biomedical Sciences 

Biographical Sketch 
1980 BS Spring Hill College
1984 MD Univ. South Alabama
1989 Pediatrics UT Southwestern Medical Center Dallas, TX
1990 Developmental Biology Stanford University Medical Center Palo Alto, CA
1993 Genetics Harvard Combined Genetics The Children's Hospital Boston, MA

Research/Clinical Interest
Clinical Genetics, Dysmorphology, Developmental and Intellectual Delay, Fragile X syndrome
Down syndrome clinical care adults and children Persons with intellectual/developmental delay - genomic sequencing Persons with Fragile X syndrome - developing a treatment protocol grant

Selected Publications 
Publication PUBMEDID
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium.
Am J Hum Genet. 2016 Jun 2;98(6):1051-66. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12.  
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.   26385305 
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.
Am J Med Genet A. 2011 Oct;155A(10):2386-96. 
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
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.
Hum Genet. 2011 Oct;130(4):495-504. Epub 2011 Feb 22.

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.
Burnside RD, Lose EJ, Domínguez MG, Sánchez-Corona J, Rivera H, Carroll AJ, Mikhail FM. Am J Med Genet A. 2009 Jul;149A(7):1516-22.
The emerging role of primary care in genetics.
Lose EJ. Curr Opin Pediatr. 2008 Dec;20(6):634-8.

The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay. Chen MJ, Holt CL, Lose EJ, Robin NH. Am J Med Genet A. 2008 Feb 15;146A(4):421-5.

Caring for adults with pediatric genetic diseases: a growing need.
Lose EJ, Robin NH. Curr Opin Pediatr. 2007 Dec;19(6):611-2. No abstract available.

Chromosome mapping of the murine syndecan gene.
Oettinger HF, Streeter H, Lose E, Copeland NG, Gilbert DJ, Justice MJ, Jenkins NA, Mohandas T, Bernfield M.
Genomics. 1991 Oct;11(2):334-8.

Biology of the syndecans: a family of transmembrane heparan sulfate proteoglycans. Bernfield M, Kokenyesi R, Kato M, Hinkes MT, Spring J, Gallo RL, Lose EJ. Annu Rev Cell Biol. 1992;8:365-93. Review. No abstract available.


Down syndrome, autism, cystic fibrosis, satellite clinic Huntsville, clinical genetics, genomic sequencing