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Darrel J. Waggoner

TitleClinical Professor
InstitutionUniversity of Chicago
DepartmentHuman Genetics
AddressChicago IL 60637
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    Collapse Overview 
    Collapse overview
    I am a clinical geneticist and 50% of my effort is devoted to patient activity. I participate in a general genetics clinic one full day where with a team of genetic counselors and fellows we see a wide range of both adult and pediatric patients for evaluation, diagnosis, counseling and treatment for genetic disorders. In addition I am involved in several multidisciplinary clinics including Marfan and Craniofacial clinic.

    I am also involved in education throughout the university specifically in the medical school. I am interested in developing new and unique curriculum for integrating genetics into the four years of the medical school training and residency programs. I am the Program Director for the Genetics Laboratory Training Program in molecular and cytogenetics and soon to be Laboratory Genetics and Genomics program. I am also interested in developing curriculum to facilitate the training of clinical genetics professionals on new technology. Specifically I have been involved in developing tools that help counselors and clinicians to interpret new genetic technology such as microarray and Next Generation sequencing results for panels and exome sequencing.

    Since I am mostly involved in the clinical aspects of the Department of Human Genetics my research is collaborative where I provide a clinical perspective for others research programs. My goal is to provide clinical correlation for the basic science research projects in the department. I have been involved in projects looking at telomere genotype/phenotype correlations, Soto syndrome, and chromosome abnormalities. I have recently been involved in a project with Dr.Carole Ober studying different clinic phenotypes in the Hutterite populations.


    Collapse Biography 
    Collapse education and training
    Washington University School of Medicine, St Louis, MOMD1992Medicine
    Washington University School of Medicine, St Louis, MO2000Medical Genetics Post DOc

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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". Genet Med. 2019 01; 21(1):262-265. PMID: 30097611.
      View in: PubMed
    2. Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 10; 20(10):1105-1113. PMID: 29915380.
      View in: PubMed
    3. Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206. PMID: 29915382.
      View in: PubMed
    4. Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242. PMID: 29907798.
      View in: PubMed
    5. Mymin D, Salen G, Triggs-Raine B, Waggoner DJ, Dembinski T, Hatch GM. The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis. 2018 02; 269:122-128. PMID: 29353227.
      View in: PubMed
    6. Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr. 2017 11; 190:130-135. PMID: 28728811.
      View in: PubMed
    7. Bennett RL, Waggoner D, Blitzer MG. Medical genetics and genomics education: how do we define success? Where do we focus our resources? Genet Med. 2017 07; 19(7):751-753. PMID: 28617418.
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    8. Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Rep Genet. 2017; 2017:9184265. PMID: 28487785.
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    9. Greeley SA, Littlejohn E, Husain AN, Waggoner D, Gundeti M, Rosenfield RL. The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?. Horm Res Paediatr. 2017; 87(3):205-212. PMID: 28253506.
      View in: PubMed
    10. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084. PMID: 27171546.
      View in: PubMed
    11. Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016 07; 17(3):173-8. PMID: 27094857.
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    12. Metelitsina TI, Waggoner DJ, Grassi MA. BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE. Retin Cases Brief Rep. 2016; 10(3):211-3. PMID: 26510000.
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    13. Triemstra J, Pham A, Rhodes L, Waggoner DJ, Onel K. A Review of Fanconi Anemia for the Practicing Pediatrician. Pediatr Ann. 2015 Oct; 44(10):444-5, 448, 450 passim. PMID: 26473424.
      View in: PubMed
    14. Lyon SM, Waggoner D, Halbach S, Thorland EC, Khorasani L, Reid RR. Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2. Genes Dis. 2015 Dec; 2(4):347-352. PMID: 26966713.
      View in: PubMed
    15. Yano S, McNamara M, Halbach S, Waggoner D. 4q21 microdeletion in a patient with epilepsy and brain malformations. Am J Med Genet A. 2015 Jun; 167(6):1409-13. PMID: 25847229.
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    16. Can NT, Nolan A, Waggoner D, Silver K, Pytel P. A 13-year old female with intractable seizures. Brain Pathol. 2015 Mar; 25(2):231-2. PMID: 25677067.
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    17. Gao Z, Waggoner D, Stephens M, Ober C, Przeworski M. An estimate of the average number of recessive lethal mutations carried by humans. Genetics. 2015 Apr; 199(4):1243-54. PMID: 25697177.
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    18. Anderson RL, Murray K, Chong JX, Ouwenga R, Antillon M, Chen P, Diaz de Leon L, Swoboda KJ, Lester LA, Das S, Ober C, Waggoner DJ. Disclosure of genetic research results to members of a founder population. J Genet Couns. 2014 Dec; 23(6):984-91. PMID: 24777552.
      View in: PubMed
    19. Demmer LA, Waggoner DJ. Professional medical education and genomics. Annu Rev Genomics Hum Genet. 2014; 15:507-16. PMID: 24635717.
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    20. Waggoner DJ. Internet resources in medical genetics. Curr Protoc Hum Genet. 2014 Jan 21; 80:Unit 9.12.. PMID: 24510683.
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    21. Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014 Mar; 2(2):115-23. PMID: 24689074.
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    22. Bhoj E, Halbach S, McDonald-McGinn D, Tan C, Lande R, Waggoner D, Zackai E. Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence. Am J Med Genet A. 2013 Sep; 161A(9):2327-33. PMID: 23913759.
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    23. Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet. 2013 Aug; 6(4):327-36. PMID: 23863954.
      View in: PubMed
    24. Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11; 93(1):181-90. PMID: 23830518.
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    25. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63. PMID: 23632792.
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    26. Greives MR, Odessey EA, Waggoner DJ, Shenaq DS, Aradhya S, Mitchell A, Whitcomb E, Warshawsky N, He TC, Reid RR. RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis. J Craniofac Surg. 2013 Jan; 24(1):126-9. PMID: 23348268.
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    27. Raghavan A, Cade-Bell I, Kahn SA, Waggoner DJ, Hageman J. An unusual case of an infant with failure to thrive. Pediatr Ann. 2012 Dec; 41(12):502-5. PMID: 23205652.
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    28. Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG. Prenatal diagnostic conundrum involving a novel ATP7A duplication. Clin Genet. 2013 Jul; 84(1):97-8. PMID: 23151012.
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    29. Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet. 2012 Oct 05; 91(4):608-20. PMID: 22981120.
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    30. Ross LF, Waggoner DJ. Parents: critical stakeholders in expanding newborn screening. J Pediatr. 2012 Sep; 161(3):385-9. PMID: 22727864.
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    31. Çaliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 01; 20(7):1285-9. PMID: 21212097.
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    32. Waggoner DJ, Tan CA. Expanding newborn screening for lysosomal disorders: opportunities and challenges. Dev Disabil Res Rev. 2011; 17(1):9-14. PMID: 22447749.
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    33. Reshmi SC, Miller JL, Deplewski D, Close C, Henderson LJ, Littlejohn E, Schwartz S, Waggoner DJ. Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype. Eur J Med Genet. 2011 Mar-Apr; 54(2):161-4. PMID: 21078420.
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    34. Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11; 86(6):839-49. PMID: 20493459.
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    35. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14; 86(5):749-64. PMID: 20466091.
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    36. Schwab J, Pena L, Sigman L, Waggoner D. Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male. Clin Pediatr Endocrinol. 2010 Jan; 19(1):15-8. PMID: 23926373.
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    37. Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42. PMID: 19701948.
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    38. Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct; 2(5):442-9. PMID: 20031619.
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    39. Waggoner DJ, Pagon RA. Internet resources in medical genetics. Curr Protoc Hum Genet. 2009 Jul; Chapter 9:Unit 9.12. PMID: 19582767.
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    40. Kang L, Marty D, Pauli RM, Mendelsohn NJ, Prachand V, Waggoner D. Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis. 2010 Jan-Feb; 6(1):99-101. PMID: 19640801.
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    41. Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL. Microphthalmia with linear skin defects: a case report and review. Pediatr Dermatol. 2008 Sep-Oct; 25(5):548-52. PMID: 18950397.
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    42. Schwab JG, Pena L, Waggoner D, Pytel P. Two Children with macrocephaly, developmental delay, and PTEN mutation. Clin Pediatr (Phila). 2009 Jan; 48(1):89-92. PMID: 18626099.
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    43. Nolan DK, Chen P, Das S, Ober C, Waggoner D. Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A. 2008 Jun 01; 146A(11):1414-22. PMID: 18446860.
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    44. Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ. Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 01; 146A(3):354-60. PMID: 18203180.
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    45. Dempsey MA, Schwartz S, Waggoner DJ. Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome. Am J Med Genet A. 2007 May 15; 143A(10):1082-6. PMID: 17431914.
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    46. Waggoner D. Mechanisms of disease: epigenesis. Semin Pediatr Neurol. 2007 Mar; 14(1):7-14. PMID: 17331879.
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    47. MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, McNally EM. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr; 17(4):285-9. PMID: 17336067.
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    48. Waggoner DJ, Martin CL. Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum. Genet Med. 2006 Jun; 8(6):379-82. PMID: 16778600.
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    49. Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33. PMID: 16247291.
      View in: PubMed
    50. McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov; 58(5):981-6. PMID: 16183809.
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    51. Elinoff JM, Liu D, Guandalini S, Waggoner DJ. Familial pyloric stenosis associated with developmental delays. J Pediatr Gastroenterol Nutr. 2005 Jul; 41(1):129-32. PMID: 15990644.
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    52. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug; 77(2):193-204. PMID: 15942875.
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    53. Eash D, Waggoner D, Chung J, Stevenson D, Martin CL. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet. 2005 May; 67(5):396-403. PMID: 15811006.
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    54. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet. 2005 Apr; 42(4):307-13. PMID: 15805156.
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    55. Gupta B, Waggoner D. Ophthalmoplegia in maple syrup urine disease. J AAPOS. 2003 Aug; 7(4):300-2. PMID: 12917622.
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    56. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002 Oct; 39(10):734-40. PMID: 12362030.
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    57. Piersall LD, Dowton SB, McAlister WH, Waggoner DJ. Vertebral anomalies in a new family with ODED syndrome. Clin Genet. 2000 Jun; 57(6):444-8. PMID: 10905665.
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    58. Waggoner DJ, Towbin J, Gottesman G, Gutmann DH. Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet. 2000 May 15; 92(2):132-5. PMID: 10797438.
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    59. Bartnikas TB, Waggoner DJ, Casareno RL, Gaedigk R, White RA, Gitlin JD. Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase. Mamm Genome. 2000 May; 11(5):409-11. PMID: 10790544.
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    60. Waggoner DJ, Drisaldi B, Bartnikas TB, Casareno RL, Prohaska JR, Gitlin JD, Harris DA. Brain copper content and cuproenzyme activity do not vary with prion protein expression level. J Biol Chem. 2000 Mar 17; 275(11):7455-8. PMID: 10713045.
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    61. Waggoner DJ, Chow CK, Dowton SB, Watson MS. Partial monosomy of distal 10q: three new cases and a review. Am J Med Genet. 1999 Sep 03; 86(1):1-5. PMID: 10440820.
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    62. Waggoner DJ, Bartnikas TB, Gitlin JD. The role of copper in neurodegenerative disease. Neurobiol Dis. 1999 Aug; 6(4):221-30. PMID: 10448050.
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    63. Waggoner DJ, Ciske DJ, Dowton SB, Watson MS. Deletion of 1q in a patient with acrofacial dysostosis. Am J Med Genet. 1999 Feb 12; 82(4):301-4. PMID: 10051162.
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    64. Waggoner DJ, Ueda K, Mantia C, Dowton SB. Methylmalonic aciduria (cblF): case report and response to therapy. Am J Med Genet. 1998 Oct 12; 79(5):373-5. PMID: 9779804.
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    65. Ciske DJ, Waggoner DJ, Dowton SB. Unique cardiac and cerebral anomalies with chondrodysplasia punctata. Am J Med Genet. 1998 Jan 06; 75(1):59-61. PMID: 9450859.
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    66. Dowton SB, Waggoner DJ, Mandl KD. Developmental regulation of expression of C-reactive protein and serum amyloid A in Syrian hamsters. Pediatr Res. 1991 Nov; 30(5):444-9. PMID: 1754300.
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