Clinical/Research Interests

Dr. Boyd's clinical interests focus on: dysmorphology; delineation of new syndromes; congenital anomalies - craniosynostosis, oral clefts, facial asymmetry syndromes, exstrophy-epispadias complex; and lysosomal storage disorders. His research interests focus on: clinical and molecular dysmorphology; genes causing congenital defects; genetic analysis of multifactorial diseases; genetic epidemiology; and disorders of intracellular trafficking.

Philosophy of Care:

Dr. Boyd's mission is to further the understanding of human heredity and genetic medicine, and to use that knowledge to treat and prevent disease.

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Select Recent Publications:

Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergern L, Boyadjiev SA, Bodurtha IN, Wang Jabs E. GJAI mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 30(5):724-33. 2009.

Ludwig M, Ching B, Reutter H, Boyadjiev SA. Bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 85(6):509-22.2009

Gambhir L, Holler T, Muller M, Schott G, Vogt H, Detlefsen B, Ebert AK, Fisch M, Beaudoin S, Stein R, Boyadjiev SA, Rosch W, Utsch B, Boemers TM, Reutter H, Ludwig M. Epidemiological survey of214 European families with Bladder Exstrophy-Epispadias Complex (BEEC). J Urol179(4) 1539-1543,2008.

Ludwig M, Ruschendorf F, Saar K, Hubner N, Siekmann L, Boyadjiev SA, Reutter H. Genome-wide linkage scan for bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 85(2):174-178,2008

Boyadjiev SA for the International Craniosynostosis Consortium. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofacial Res 10(3):129-137,2007.

Reutter H, QiL, GearhartJP, Boemers T, Ebert A, Utsch B, Rosch W, Ludwig M,Boyadjiev SA. Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet 143A:2751-2756, 2007.

Fromme JC, Ravazzola M, Hamamoto S, Al-Balwi M, Eyaid W, Boyadjiev SA, Cosson P, Schekman R, Orci L. The genetic basis of a craniofacial disease provides insight into COPlI coat assembly. Dev Cell 13(5) 623-634, 2007.

Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics, 118(2):514-521, 2006.

Boyadiev SA, Fromme JC, Nauta C, Hur DJ, Zhang G, Schekman R, Orci L, Eyaid W. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal ER-to-Golgi trafficking. Nat Genet, 38(10):1192-1197, 2006.

Beaty TH, Hetmanski JB, Fallin MD, Park JW, Jabs EW, McIntosh I, Liang KY, Vander Kolk CA, Boyadjiev SA, Chong SS, Cheah CS, Wu-Chou YH, Chen KT, Chiu YF, Yeow V, Ng Ivy SL, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Analysis of 64 candidate genes on chromosome 2 in cleft case-parent trios from three populations. Hum Genet, [Epub ahead of print], Sep 5, 2006.