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Simeon Boyd, MD

Title(s)Professor, General Pediatrics
SchoolUniversity of California, Davis
Phone916-703-0446
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D. Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial. J Inherit Metab Dis. 2019 May; 42(3):534-544. PMID: 30834538.
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    2. Barba M, Di Pietro L, Massimi L, Geloso MC, Frassanito P, Caldarelli M, Michetti F, Della Longa S, Romitti PA, Di Rocco C, Arcovito A, Parolini O, Tamburrini G, Bernardini C, Boyadjiev SA, Lattanzi W. Corrigendum to "BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche" [Bone 112 (July 2018) 58-70]. Bone. 2019 Apr; 121:293. PMID: 30777729.
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    3. Barba M, Di Pietro L, Massimi L, Geloso MC, Frassanito P, Caldarelli M, Michetti F, Della Longa S, Romitti PA, Di Rocco C, Arcovito A, Parolini O, Tamburrini G, Bernardini C, Boyadjiev SA, Lattanzi W. BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. Bone. 2018 07; 112:58-70. PMID: 29674126.
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    4. Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genet Med. 2018 09; 20(9):1061-1068. PMID: 29215649.
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    5. Justice CM, Kim J, Kim SD, Kim K, Yagnik G, Cuellar A, Carrington B, Lu CL, Sood R, Boyadjiev SA, Wilson AF. A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element. Am J Med Genet A. 2017 Nov; 173(11):2893-2897. PMID: 28985029.
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    6. Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H. ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. Sci Rep. 2017 02 08; 7:42170. PMID: 28176844.
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    7. Lattanzi W, Barba M, Di Pietro L, Boyadjiev SA. Genetic advances in craniosynostosis. Am J Med Genet A. 2017 May; 173(5):1406-1429. PMID: 28160402.
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    8. Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M. Muenke syndrome: An international multicenter natural history study. Am J Med Genet A. 2016 Apr; 170A(4):918-29. PMID: 26740388.
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    9. Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet. 2015 Mar 05; 96(3):432-9. PMID: 25683121.
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    10. Valayannopoulos V, Malinova V, Honzík T, Balwani M, Breen C, Deegan PB, Enns GM, Jones SA, Kane JP, Stock EO, Tripuraneni R, Eckert S, Schneider E, Hamilton G, Middleton MS, Sirlin C, Kessler B, Bourdon C, Boyadjiev SA, Sharma R, Twelves C, Whitley CB, Quinn AG. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014 Nov; 61(5):1135-42. PMID: 24993530.
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    11. Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, Van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder. Hum Mol Genet. 2014 Oct 15; 23(20):5536-44. PMID: 24852367.
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    12. Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert AK, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, Gearhart JP, Lakshmanan Y, Kockum CC, Holmdahl G, Läckgren G, Nordenskjöld A, Boyadjiev SA, Herrmann BG, Nöthen MM, Ludwig M, Reutter H. Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Res A Clin Mol Teratol. 2014 Jun; 100(6):512-7. PMID: 24764164.
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    13. Heuzé Y, Martínez-Abadías N, Stella JM, Arnaud E, Collet C, García Fructuoso G, Alamar M, Lo LJ, Boyadjiev SA, Di Rocco F, Richtsmeier JT. Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes. Birth Defects Res A Clin Mol Teratol. 2014 Apr; 100(4):250-9. PMID: 24578066.
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    14. Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8. PMID: 24458983.
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    15. Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 2014 Apr; 16(4):302-10. PMID: 24071792.
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    16. Qi L, Wang M, Yagnik G, Mattheisen M, Gearhart JP, Lakshmanan Y, Ebert AK, Rösch W, Ludwig M, Draaken M, Reutter H, Boyadjiev SA. Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 2013 Dec; 97(12):759-63. PMID: 23913486.
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    17. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210. PMID: 23810381.
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    18. Kim SD, Yagnik G, Cunningham ML, Kim J, Boyadjiev SA. MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis. Cleft Palate Craniofac J. 2014 Jan; 51(1):115-9. PMID: 23566293.
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    19. Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012 Dec; 44(12):1360-4. PMID: 23160099.
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    20. Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec; 33(12):1626-9. PMID: 22829454.
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    21. Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012 Jun; 49(6):373-9. PMID: 22577225.
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    22. Kim SD, Liu JL, Roscioli T, Buckley MF, Yagnik G, Boyadjiev SA, Kim J. Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. FEBS Lett. 2012 May 21; 586(10):1516-21. PMID: 22673519.
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    23. Heuzé Y, Martínez-Abadías N, Stella JM, Senders CW, Boyadjiev SA, Lo LJ, Richtsmeier JT. Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis. J Exp Zool B Mol Dev Evol. 2012 Mar; 318(2):109-22. PMID: 22532473.
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    24. Kim SD, Pahuja KB, Ravazzola M, Yoon J, Boyadjiev SA, Hammamoto S, Schekman R, Orci L, Kim J. The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum. J Biol Chem. 2012 Mar 23; 287(13):10134-44. PMID: 22298774.
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    25. Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT. Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management. Arch Facial Plast Surg. 2011 Nov-Dec; 13(6):415-20. PMID: 22106187.
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    26. Bhat A, Boyadjiev SA, Senders CW, Leach JK. Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior. PLoS One. 2011; 6(10):e25990. PMID: 21998741.
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    27. Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 2011 Sep; 7(9):e1002278. PMID: 21931569.
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    28. Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E. Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. J Pediatr. 2011 Nov; 159(5):825-831.e1. PMID: 21679965.
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    29. Qi L, Chen K, Hur DJ, Yagnik G, Lakshmanan Y, Kotch LE, Ashrafi GH, Martinez-Murillo F, Kowalski J, Naydenov C, Wittler L, Gearhart JP, Draaken M, Reutter H, Ludwig M, Boyadjiev SA. Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. Int J Mol Med. 2011 Jun; 27(6):755-65. PMID: 21431277.
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    30. Ching BJ, Wittler L, Proske J, Yagnik G, Qi L, Draaken M, Reutter H, Gearhart JP, Ludwig M, Boyadjiev SA. p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. Int J Mol Med. 2010 Dec; 26(6):861-7. PMID: 21042780.
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    31. Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Clin Genet. 2011 Aug; 80(2):169-76. PMID: 21039434.
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    32. Heuzé Y, Boyadjiev SA, Marsh JL, Kane AA, Cherkez E, Boggan JE, Richtsmeier JT. New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis. J Anat. 2010 Aug; 217(2):85-96. PMID: 20572900.
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    33. Monitto CL, Hamilton RG, Levey E, Jedlicka AE, Dziedzic A, Gearhart JP, Boyadjiev SA, Brown RH. Genetic predisposition to natural rubber latex allergy differs between health care workers and high-risk patients. Anesth Analg. 2010 May 01; 110(5):1310-7. PMID: 20418295.
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    34. Ludwig M, Ching B, Reutter H, Boyadjiev SA. Bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 2009 Jun; 85(6):509-22. PMID: 19161161.
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    35. Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May; 30(5):724-33. PMID: 19338053.
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    36. Ludwig M, Rüschendorf F, Saar K, Hübner N, Siekmann L, Boyadjiev SA, Reutter H. Genome-wide linkage scan for bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 2009 Feb; 85(2):174-8. PMID: 19086019.
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    37. Gambhir L, Höller T, Müller M, Schott G, Vogt H, Detlefsen B, Ebert AK, Fisch M, Beaudoin S, Stein R, Boyadjiev SA, Gearhart JP, Rösch W, Utsch B, Boemers TM, Reutter H, Ludwig M. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol. 2008 Apr; 179(4):1539-43. PMID: 18295266.
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    38. Reutter H, Qi L, Gearhart JP, Boemers T, Ebert AK, Rösch W, Ludwig M, Boyadjiev SA. Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet A. 2007 Nov 15; 143A(22):2751-6. PMID: 17937426.
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    39. 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 COPII coat assembly. Dev Cell. 2007 Nov; 13(5):623-34. PMID: 17981132.
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    40. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep; 14(3):150-61. PMID: 17980312.
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    41. Boyadjiev SA. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res. 2007 Aug; 10(3):129-37. PMID: 17651129.
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    42. Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet. 2006 Oct; 38(10):1192-7. PMID: 16980979.
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    43. Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng IS, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Hum Genet. 2006 Nov; 120(4):501-18. PMID: 16953426.
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    44. 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. 2006 Aug; 118(2):e514-21. PMID: 16816004.
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    45. Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J. 2006 Mar; 43(2):148-51. PMID: 16526918.
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    46. Aldridge K, Boyadjiev SA, Capone GT, DeLeon VB, Richtsmeier JT. Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images. Am J Med Genet A. 2005 Oct 15; 138A(3):247-53. PMID: 16158436.
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    47. Aldridge K, Kane AA, Marsh JL, Panchal J, Boyadjiev SA, Yan P, Govier D, Ahmad W, Richtsmeier JT. Brain morphology in nonsyndromic unicoronal craniosynostosis. Anat Rec A Discov Mol Cell Evol Biol. 2005 Aug; 285(2):690-8. PMID: 15977220.
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    48. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet. 2005 Jun; 67(6):503-10. PMID: 15857417.
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    49. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA. A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A. 2005 May 15; 135(1):36-40. PMID: 15810001.
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    50. Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur DJ, Thomas GH, Gearhart JP, Stetten G. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Genomics. 2005 May; 85(5):622-9. PMID: 15820314.
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    51. Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, Mathews RI, Broman KW, Gearhart JP. Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. BJU Int. 2004 Dec; 94(9):1337-43. PMID: 15610117.
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    52. Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet. 2003 Jul; 113(1):1-9. PMID: 12677423.
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    53. Al-Hassnan ZN, Boyadjiev SA, Praphanphoj V, Hamosh A, Braverman NE, Thomas GH, Geraghty MT. The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia. J Inherit Metab Dis. 2003; 26(1):89-91. PMID: 12872849.
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    54. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb; 72(2):408-18. PMID: 12457340.
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    55. Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW. Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms. Cytogenet Genome Res. 2002; 98(1):29-37. PMID: 12584438.
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    56. Boyadjiev SA, Jabs EW. Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. Clin Genet. 2000 Apr; 57(4):253-66. PMID: 10845565.
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    57. Praphanphoj V, Boyadjiev SA, Waber LJ, Brusilow SW, Geraghty MT. Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia. J Inherit Metab Dis. 2000 Mar; 23(2):129-36. PMID: 10801054.
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    58. Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000 Mar; 66(3):768-77. PMID: 10712195.
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    59. Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet. 1999 Jun; 64(6):1580-93. PMID: 10330345.
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    60. Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptácek LJ, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. 1999 May 15; 58(1):34-40. PMID: 10331943.
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    61. Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. J Med Genet. 1998 Sep; 35(9):763-6. PMID: 9733036.
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    62. Gupta PK, Sahota A, Boyadjiev SA, Bye S, Shao C, O'Neill JP, Hunter TC, Albertini RJ, Stambrook PJ, Tischfield JA. High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination. Cancer Res. 1997 Mar 15; 57(6):1188-93. PMID: 9067291.
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    63. Nance MA, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR. Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease. Neurology. 1996 Nov; 47(5):1333-5. PMID: 8909455.
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    64. Boyadjiev SA, Sahota A, Tischfield JA. Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene. Hum Mutat. 1996; 8(3):214-5. PMID: 8889579.
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    65. Pratt VM, Boyadjiev S, Green K, Hodes ME, Dlouhy SR. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus. Am J Med Genet. 1995 Jul 31; 58(1):70-3. PMID: 7573159.
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    66. Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. Am J Med Genet. 1995 Feb 13; 55(4):402-4. PMID: 7539212.
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