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Faculty Detail    
Name EDWARD J LOSE
 
Campus Address KAUL 210 Zip 0024
Phone  205-934-4983
E-mail  elose@uab.edu
Other websites
     

Education
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
Title
Clinical Genetics, Dysmorphology, Developmental and Intellectual Delay, Fragile X syndrome
Description
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
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. Nat Genet. 2016 Nov 14. doi: 10.1038/ng.3720.   27841880 
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
Hollenbeck D, Williams CL, Drazba K, Descartes M, Korf BR, Rutledge SL, Lose EJ, Robin NH, Carroll AJ, Mikhail FM.
Genet Med. 2016 Sep 15. doi: 10.1038/gim.2016.132. 
27632688 
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Brothers KB, East KM, Kelley WV, Wright MF, Westbrook MJ, Rich CA, Bowling KM, Lose EJ, Bebin EM, Simmons S, Myers JA, Barsh G, Myers RM, Cooper GM, Pulley JM, Rothstein MA, Clayton EW.
Genet Med. 2016 Aug 25. doi: 10.1038/gim.2016.110.

 
27561086  
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.  
27181682 
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. 
22031302 
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.

 
21340693 
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.
 
19533774 
The emerging role of primary care in genetics.
Lose EJ. Curr Opin Pediatr. 2008 Dec;20(6):634-8.

 
19005331 
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.

 
18203192 
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.

 
18025925 
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.

 
1769649 
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.

 
1335744 

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