Dr. Berkley Powell is board certified in Pediatrics by the American Board of Pediatrics and Clinical Genetics by the American Board of Medical Genetics. His professional activities include numerous presentations and articles in professional publications such as Human Molecular Genetics, Pediatrics and the American Journal of Medical Genetics. He is also a member of several professional societies including the American Academy of Pediatrics, the Society for Inherited Metabolic Disorders, the Western Society for Pediatric Research and the American Society of Human Genetics.
Active in the community, Dr. Powell provided years of community service, such as serving on community advisory committees, and has provided volunteer medical service abroad at rural health clinics in countries including Peru, St. Lucia, and India.
Dr. Powell earned his medical degree from the Medical College of Virginia (Virginia Commonwealth University). He completed his internship, pediatric residency and a fellowship in pediatric metabolism/biochemical genetics at the Oregon Health Sciences University Hospital in Portland, Oregon.
Publications
Han XD, Powell BR, Phalin JL, Chehab FF. “Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.” Am J Med Genet A. 2006; 140(13):1463-71.
PMID: 16761284
Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. “Clinical diagnoses that overlap with choroideremia.” Can J Ophthalmol. 2003; 38(5):364-72; quiz 372.
PMID: 12956277
Burns C, Powell BR, Hsia YE, Reinker K. “Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.” J Pediatr Orthop. 2003; 23(1):88-93.
PMID: 12499951
Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. “Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.” Am J Hum Genet. 2003; 72(2):419-28. Epub 2002 Dec 16.
PMID: 12491225
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. “Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.” Am J Hum Genet. 2002; 71(4):947-51. Epub 2002 Aug 2.
PMID: 12161821
Reinker K, Hsia YE, Rimoin DL, Henry G, Yuen J, Powell B, Wilcox WR. “Orthopaedic manifestations of Marinesco-Sjögren syndrome.” J Pediatr Orthop. 2002; 22(3):399-403.
PMID: 11961464
Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. “Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).” Hum Mol Genet. 2001; 10(8):865-74.
PMID: 11285252