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Human Genetics

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Division Publications

  1. Miller E, Warren NS. (2009) The impact of a career ladder in genetic counseling on professional development. Perspect Genet Couns. Chicago, National Society of Genetic Counselors. 30:
  2. Prows CA. "New models for service delivery: Cincinnati Children’s Hospital Medical Center." Innovations in service delivery in the age of genomics: workshop summary. Washington, DC: National Academies Press; 2009: 27-31.
  3. Wallace J, Baugh C, Cornett S, Hood B, Prows C, Ryan N, Warren N, Au M, Brewster R, Brown MK, Glandorf K, Jarrell J, Sorrell J, Walters J, Myers M. A family history demonstration project among women in an urban Appalachian community. . Prog Commun Health Partnerships Res Educ Action. 2009; 3: 155-163.
  4. Leslie ND, Tinkle BT, Strauss AW, Shooner K, Zhang K. (2009) Very long chain acyl-coenzyme A dehydrogenase deficiency. GeneReviews. Seattle, WA, University of Washington.
  5. Black JH, Braverman AC, Byers P, Oderich G, Sundt T, Tinkle B, Wyse P. (2009) Vascular type: medical resource guide. Los Angeles, CA, Ehlers-Danlos National Foundation.
  6. Ding Y, Li Y, You J, Yang L, Chen B, Lu J, Guan MX. Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family. J Genet Genomics. 2009; 36: 241-50.
  7. Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: resetting the clinical and scientific agenda. Am J Hematol. 2009; 84: 205-7.
  8. Stevenson DA, Viskochil DH, Carey JC, Slater H, Murray M, Sheng X, D'Astous J, Hanson H, Schorry E, Moyer-Mileur LJ. Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography. Bone. 2009; 44: 585-9.
  9. Warren NS, Ormond KE. Diversity in genetic counseling: past, present and future. J Genet Couns. 2009; 18: 197-9.
  10. Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009; 11: 92-100.
  11. Wang S, Ware SM. Use of FOXJ1CreER2T mice for inducible deletion of embryonic node gene expression. Genesis. 2009; 47: 132-6.
  12. Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR. Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. Mol Genet Metab. 2009; 96: S3-5.
  13. Qu P, Du H, Li Y, Yan C. Myeloid-specific expression of Api6/AIM/Sp alpha induces systemic inflammation and adenocarcinoma in the lung. J Immunol. 2009; 182: 1648-59.
  14. Gilbert DL, Leslie EJ, Keddache M, Leslie ND. A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. Mov Disord. 2009; 24: 364-70.
  15. Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet. 2009; 84: 44-51.
  16. Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet. 2009; 124: 593-605.
  17. Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology. 2009; 72: 310-6.
  18. Ahmed F, Osman N, Lucas F, Neff G, Smolarek T, Bennett JM, Komrokji RS. Therapy related CMML: a case report and review of the literature. Int J Hematol. 2009; 89: 699-703.
  19. Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009; 135: 543-7.
  20. Liu Y, Li R, Li Z, Wang XJ, Yang L, Wang S, Guan MX. Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree. Hypertension. 2009; 53: 1083-90.
  21. Owens TA, Tabangin ME, Huether CA, Bowling BV, Warren NS. High school biology/life science teachers' presentation of genetic counseling and health care career options in their classrooms. J Genet Couns. 2009; 18: 275-86.
  22. Pestian J, Spencer M, Matykiewicz P, Zhang K, Vinks S, Glauser T. Personalizing drug selection using advanced clinical decision support. Biomed Inform Insights. 2009; 2: 19-29.
  23. Prows CA, Saldana SN. Nurses' genetic/genomics competencies when medication therapy is guided by pharmacogenetic testing: children with mental health disorders as an exemplar. J Pediatr Nurs. 2009; 24: 179-88.
  24. Woo JG, Guerrero ML, Altaye M, Ruiz-Palacios GM, Martin LJ, Dubert-Ferrandon A, Newburg DS, Morrow AL. Human milk adiponectin is associated with infant growth in two independent cohorts. Breastfeed Med. 2009; 4: 101-9.
  25. Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Phenotypic and microscopic description of a new case of Ermine phenotype. Am J Med Genet A. 2009; 149A: 1253-6.
  26. Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T. Variation in GIGYF2 is not associated with Parkinson disease. Neurology. 2009; 72: 1886-92.
  27. Liang M, Guan M, Zhao F, Zhou X, Yuan M, Tong Y, Yang L, Wei QP, Sun YH, Lu F, Qu J, Guan MX. Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation. Biochem Biophys Res Commun. 2009; 383: 286-92.
  28. Pankratz N, Nichols WC, Elsaesser VE, Pauciulo MW, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Pfeiffer RF, Foroud T. Alpha-synuclein and familial Parkinson's disease. Mov Disord. 2009; 24: 1125-31.
  29. Sumegi J, Johnson J, Filipovich A, Marsch R, Zhang K. (2009) Lymphoproliferative disease, x-linked. GeneReviews. Seattle, WA, University of Washington.
  30. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tato L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009; 11: 210-9.
  31. Qu J, Zhou X, Zhang J, Zhao F, Sun YH, Tong Y, Wei QP, Cai W, Yang L, West CE, Guan MX. Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation. Ophthalmology. 2009; 116: 558-564 e3.
  32. Qu P, Du H, Wilkes DS, Yan C. Critical roles of lysosomal acid lipase in T cell development and function. Am J Pathol. 2009; 174: 944-56.
  33. Qu P, Roberts J, Li Y, Albrecht M, Cummings OW, Eble JN, Du H, Yan C. Stat3 downstream genes serve as biomarkers in human lung carcinomas and chronic obstructive pulmonary disease. Lung Cancer. 2009; 63: 341-7.
  34. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009; 18: 861-71.
  35. Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol. 2009; 53: 1065-71.
  36. Guimaraes CV, Linam LE, Kline-Fath BM, Donnelly LF, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM. Prenatal MRI findings of fetuses with congenital high airway obstruction sequence. Korean J Radiol. 2009; 10: 129-34.
  37. Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet A. 2009; 149A: 887-93.
  38. Liou B, Grabowski GA. Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. Mol Genet Metab. 2009; 97: 65-74.
  39. Prausa SE, Fukuda T, Maseck D, Curtsinger KL, Liu C, Zhang K, Nick TG, Sherbotie JR, Ellis EN, Goebel J, Vinks AA. UGT genotype may contribute to adverse events following medication with mycophenolate mofetil in pediatric kidney transplant recipients. Clin Pharmacol Ther. 2009; 85: 495-500.
  40. Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009; 46: 308-14.
  41. Kitatani K, Sheldon K, Anelli V, Jenkins RW, Sun Y, Grabowski GA, Obeid LM, Hannun YA. Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J Biol Chem. 2009; 284: 12979-88.
  42. Kitatani K, Sheldon K, Rajagopalan V, Anelli V, Jenkins RW, Sun Y, Grabowski GA, Obeid LM, Hannun YA. Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation. J Biol Chem. 2009; 284: 12972-8.
  43. Brown B, Warren NS, Brehm B, Breen P, Beirschbach JL, Smith R, Wall A, VanLoon RA. The design and evaluation of an interprofessional elective course with a cultural competence component. J Allied Health. 2008; 37: 316E-337E.
  44. Kardia SL, Kelly RJ, Keddache MA, Aronow BJ, Grabowski GA, Hahn HS, Case KL, Wagoner LE, Dorn GW, 2nd, Liggett SB. Multiple interactions between the alpha 2C- and beta1-adrenergic receptors influence heart failure survival. BMC Med Genet. 2008; 9: 93.
  45. Sun Y, Jia L, Williams MT, Zamzow M, Ran H, Quinn B, Aronow BJ, Vorhees CV, Witte DP, Grabowski GA. Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice. BMC Neurosci. 2008; 9: 76.
  46. Tinkle BT. Issues and management of joint hypermobility : a guide for the Ehlers-Danlos syndrome hypermobility type and the hypermobility syndrome. Greens Fork, IN; Left Paw Press
  47. Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, Smolarek T, Bleesing J, Hansen M, Jodele S, Jordan M, Filipovich AH, Mehta PA. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant. 2008; 42: 159-65.
  48. Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA. Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. J Lipid Res. 2008; 49: 1646-57.
  49. Tada Y, Laudi S, Harral J, Carr M, Ivester C, Tanabe N, Takiguchi Y, Tatsumi K, Kuriyama T, Nichols WC, West J. Murine pulmonary response to chronic hypoxia is strain specific. Exp Lung Res. 2008; 34: 313-23.
  50. Sun Y, Witte DP, Ran H, Zamzow M, Barnes S, Cheng H, Han X, Williams MT, Skelton MR, Vorhees CV, Grabowski GA. Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet. 2008; 17: 2345-56.
  51. Koochekpour S, Lee TJ, Sun Y, Hu S, Grabowski GA, Liu Z, Garay J. Prosaposin is an AR-target gene and its neurotrophic domain upregulates AR expression and activity in prostate stromal cells. J Cell Biochem. 2008; 104: 2272-85.
  52. Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genomics. 2008; 18: 1059-70.
  53. Bowling BV, Huether CA, Wang L, Myers MF, Markle GC, Dean GE, Acra EE, Wray FP, Jacob GA. Genetic literacy of undergraduate non-science majors and the impact of introductory biology and genetics courses. BioScience. 2008; 58: 654-60.
  54. Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008; 38: 1170-7.
  55. Cai W, Fu Q, Zhou X, Qu J, Tong Y, Guan MX. Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation. J Genet Genomics. 2008; 35: 649-55.
  56. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008; 64: 550-5.
  57. Mattheis PJ, Hickey F, Tinkle BT, Hopkin R. Prenatal diagnosis: beyond decisions about termination. J Pediatr. 2008; 153: 728; author reply 728-9.
  58. Pankratz N, Marder KS, Halter CA, Rudolph A, Shults CW, Nichols WC, Foroud T. Clinical correlates of depressive symptoms in familial Parkinson's disease. Mov Disord. 2008; 23: 2216-23.
  59. Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski GA, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008; 205: 2703-10.
  60. Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008; 146A: 2512-9.
  61. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008; 372: 1263-71.
  62. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008; 372: 1427-35.
  63. Chen J, Yuan H, Lu J, Liu X, Wang G, Zhu Y, Cheng J, Wang X, Han B, Yang L, Yang S, Yang A, Sun Q, Kang D, Zhang X, Dai P, Zhai S, Han D, Young WY, Guan MX. Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. Mitochondrion. 2008; 8: 285-92.
  64. Gross SA, Zhu X, Bao L, Ryder J, Le A, Chen Y, Wang XQ, Irons RD. A prospective study of 728 cases of non-Hodgkin lymphoma from a single laboratory in Shanghai, China. Int J Hematol. 2008; 88: 165-73.
  65. Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, Binstadt BA, Filipovich A, Grom AA. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008; 58: 2892-6.