Simeon Boyd

Title(s)Professor, Pediatrics
SchoolSchool of Veterinary Medicine
AddressMIND Bldg/UCDMC
CA 95817
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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. 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 05; 42(3):534-544. 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. PMID: 30834538.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansCTClinical Trials
    2. 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. 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. PMID: 30777729; PMCID: PMC6454209.
      View in: PubMed   Mentions:    Fields:    
    3. 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. 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. PMID: 29674126; PMCID: PMC5970090.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    4. 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. 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. PMID: 29215649.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    5. 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. Justice CM, Kim J, Kim SD, Kim K, Yagnik G, Cuellar A, Carrington B, Lu CL, Sood R, Boyadjiev SA, Wilson AF. PMID: 28985029; PMCID: PMC5659764.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    6. ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. Sci Rep. 2017 02 08; 7:42170. 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. PMID: 28176844; PMCID: PMC5296905.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimals
    7. Genetic advances in craniosynostosis. Am J Med Genet A. 2017 May; 173(5):1406-1429. Lattanzi W, Barba M, Di Pietro L, Boyadjiev SA. PMID: 28160402; PMCID: PMC5397362.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    8. Muenke syndrome: An international multicenter natural history study. Am J Med Genet A. 2016 Apr; 170A(4):918-29. 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. PMID: 26740388.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    9. 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. 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. PMID: 25683121; PMCID: PMC4375534.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansAnimalsCells
    10. 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. 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. PMID: 24993530; PMCID: PMC4203712.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCTClinical Trials
    11. 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. 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. PMID: 24852367; PMCID: PMC4168827.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    12. 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. 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. PMID: 24764164.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    13. 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. 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. PMID: 24578066; PMCID: PMC4029055.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCTClinical Trials
    14. 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. Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. PMID: 24458983.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    15. Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 2014 Apr; 16(4):302-10. Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. PMID: 24071792; PMCID: PMC4143991.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    16. 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. Qi L, Wang M, Yagnik G, Mattheisen M, Gearhart JP, Lakshmanan Y, Ebert AK, Rösch W, Ludwig M, Draaken M, Reutter H, Boyadjiev SA. PMID: 23913486.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    17. 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. 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. PMID: 23810381; PMCID: PMC3738832.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    18. MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis. Cleft Palate Craniofac J. 2014 Jan; 51(1):115-9. Kim SD, Yagnik G, Cunningham ML, Kim J, Boyadjiev SA. PMID: 23566293; PMCID: PMC3708983.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    19. 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. 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. PMID: 23160099; PMCID: PMC3736322.
      View in: PubMed   Mentions: 62     Fields:    Translation:Humans
    20. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec; 33(12):1626-9. 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. PMID: 22829454; PMCID: PMC3495992.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    21. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012 Jun; 49(6):373-9. 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. PMID: 22577225.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    22. Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. FEBS Lett. 2012 May 21; 586(10):1516-21. Kim SD, Liu JL, Roscioli T, Buckley MF, Yagnik G, Boyadjiev SA, Kim J. PMID: 22673519; PMCID: PMC3372856.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    23. 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. Heuzé Y, Martínez-Abadías N, Stella JM, Senders CW, Boyadjiev SA, Lo LJ, Richtsmeier JT. PMID: 22532473; PMCID: PMC3315613.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    24. 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):10134-10144. Kim SD, Pahuja KB, Ravazzola M, Yoon J, Boyadjiev SA, Hammamoto S, Schekman R, Orci L, Kim J. PMID: 22298774; PMCID: PMC3323018.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimalsCells
    25. 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. Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT. PMID: 22106187.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    26. Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior. PLoS One. 2011; 6(10):e25990. Bhat A, Boyadjiev SA, Senders CW, Leach JK. PMID: 21998741; PMCID: PMC3187840.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    27. 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. 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. PMID: 21931569; PMCID: PMC3169541.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansAnimalsCells
    28. 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. 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. PMID: 21679965; PMCID: PMC3409088.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    29. 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. 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. PMID: 21431277.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    30. 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. Ching BJ, Wittler L, Proske J, Yagnik G, Qi L, Draaken M, Reutter H, Gearhart JP, Ludwig M, Boyadjiev SA. PMID: 21042780.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    31. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Clin Genet. 2011 Aug; 80(2):169-76. Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J. PMID: 21039434; PMCID: PMC4143380.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    32. New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis. J Anat. 2010 Aug; 217(2):85-96. Heuzé Y, Boyadjiev SA, Marsh JL, Kane AA, Cherkez E, Boggan JE, Richtsmeier JT. PMID: 20572900; PMCID: PMC2913018.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    33. 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. Monitto CL, Hamilton RG, Levey E, Jedlicka AE, Dziedzic A, Gearhart JP, Boyadjiev SA, Brown RH. PMID: 20418295.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    34. Bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 2009 Jun; 85(6):509-22. Ludwig M, Ching B, Reutter H, Boyadjiev SA. PMID: 19161161.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimals
    35. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May; 30(5):724-33. Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. PMID: 19338053.
      View in: PubMed   Mentions: 101     Fields:    Translation:HumansCells
    36. Genome-wide linkage scan for bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 2009 Feb; 85(2):174-8. Ludwig M, Rüschendorf F, Saar K, Hübner N, Siekmann L, Boyadjiev SA, Reutter H. PMID: 19086019.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    37. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol. 2008 Apr; 179(4):1539-43. 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. PMID: 18295266; PMCID: PMC2674109.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    38. Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet A. 2007 Nov 15; 143A(22):2751-6. Reutter H, Qi L, Gearhart JP, Boemers T, Ebert AK, Rösch W, Ludwig M, Boyadjiev SA. PMID: 17937426.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    39. The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Dev Cell. 2007 Nov; 13(5):623-634. Fromme JC, Ravazzola M, Hamamoto S, Al-Balwi M, Eyaid W, Boyadjiev SA, Cosson P, Schekman R, Orci L. PMID: 17981132; PMCID: PMC2262049.
      View in: PubMed   Mentions: 103     Fields:    Translation:HumansCells
    40. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep; 14(3):150-61. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. PMID: 17980312.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    41. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res. 2007 Aug; 10(3):129-37. Boyadjiev SA, International Craniosynostosis Consortium. PMID: 17651129.
      View in: PubMed   Mentions: 52     Fields:    Translation:Humans
    42. 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. Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W. PMID: 16980979.
      View in: PubMed   Mentions: 157     Fields:    Translation:HumansAnimalsCells
    43. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Hum Genet. 2006 Nov; 120(4):501-18. 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. PMID: 16953426.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    44. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics. 2006 Aug; 118(2):e514-21. 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. PMID: 16816004.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    45. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J. 2006 Mar; 43(2):148-51. Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. PMID: 16526918.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    46. 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. Aldridge K, Boyadjiev SA, Capone GT, DeLeon VB, Richtsmeier JT. PMID: 16158436; PMCID: PMC4443686.
      View in: PubMed   Mentions: 110     Fields:    Translation:Humans
    47. Brain morphology in nonsyndromic unicoronal craniosynostosis. Anat Rec A Discov Mol Cell Evol Biol. 2005 Aug; 285(2):690-8. Aldridge K, Kane AA, Marsh JL, Panchal J, Boyadjiev SA, Yan P, Govier D, Ahmad W, Richtsmeier JT. PMID: 15977220.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    48. 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. 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. PMID: 15857417.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    49. 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. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA. PMID: 15810001.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    50. 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. Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur DJ, Thomas GH, Gearhart JP, Stetten G. PMID: 15820314.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    51. Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. BJU Int. 2004 Dec; 94(9):1337-43. Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, Mathews RI, Broman KW, Gearhart JP. PMID: 15610117.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    52. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet. 2003 Jul; 113(1):1-9. Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. PMID: 12677423.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    53. 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. Al-Hassnan ZN, Boyadjiev SA, Praphanphoj V, Hamosh A, Braverman NE, Thomas GH, Geraghty MT. PMID: 12872849.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    54. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb; 72(2):408-18. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. PMID: 12457340; PMCID: PMC379233.
      View in: PubMed   Mentions: 240     Fields:    Translation:HumansCells
    55. 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. 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. PMID: 12584438.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    56. Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. Clin Genet. 2000 Apr; 57(4):253-66. Boyadjiev SA, Jabs EW. PMID: 10845565.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    57. 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. Praphanphoj V, Boyadjiev SA, Waber LJ, Brusilow SW, Geraghty MT. PMID: 10801054.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    58. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000 Mar; 66(3):768-77. 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. PMID: 10712195; PMCID: PMC1288162.
      View in: PubMed   Mentions: 50     Fields:    Translation:Humans
    59. 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. Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. PMID: 10330345; PMCID: PMC1377901.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    60. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. 1999 May 15; 58(1):34-40. 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. PMID: 10331943.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    61. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. J Med Genet. 1998 Sep; 35(9):763-6. Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT. PMID: 9733036; PMCID: PMC1051430.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    62. High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination. Cancer Res. 1997 Mar 15; 57(6):1188-93. Gupta PK, Sahota A, Boyadjiev SA, Bye S, Shao C, O'Neill JP, Hunter TC, Albertini RJ, Stambrook PJ, Tischfield JA. PMID: 9067291.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    63. 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. Nance MA, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR. PMID: 8909455.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    64. Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene. Hum Mutat. 1996; 8(3):214-5. Boyadjiev SA, Sahota A, Tischfield JA. PMID: 8889579.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    65. 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. Pratt VM, Boyadjiev S, Green K, Hodes ME, Dlouhy SR. PMID: 7573159.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    66. 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. Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. PMID: 7539212.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    67. Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Mol Genet. 1994 May; 3(5):817-8. Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA. PMID: 7915931.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    68. Germline and somatic mutation at the APRT locus of mice and man. Adv Exp Med Biol. 1994; 370:661-4. Tischfield JA, Engle SJ, Gupta PK, Bye S, Boyadjiev S, Shao C, O'Neill P, Albertini RJ, Stambrook PJ, Sahota AS. PMID: 7660991.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    69. Identification of polymorphic markers flanking the human APRT gene. Adv Exp Med Biol. 1994; 370:657-60. Boyadjiev SA, Sahota A, Tischfield JA. PMID: 7660990.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    70. Analysis of in vivo somatic mutations at the APRT locus. Adv Exp Med Biol. 1994; 370:653-6. Gupta PK, Sahota A, Boyadjiev SA, Bye S, O'Neill JP, Hunter TC, Albertini RJ, Tischfield JA. PMID: 7660989.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
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