Human Genetics

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Human Genetics

 

Division Publications

  1. Ayoub AE, Oh S, Xie Y, Leng J, Cotney J, Dominguez MH, Noonan JP, Rakic P. Transcriptional programs in transient embryonic zones of the cerebral cortex defined by high-resolution mRNA sequencing. Proc Natl Acad Sci U S A. 2011; 108:14950-5.
  2. Baye TM, He H, Ding L, Kurowski BG, Zhang X, Martin LJ. Population structure analysis using rare and common functional variants. BMC Proc. 2011; 5 Suppl 9:S8.
  3. Bookman LB, Melton KR, Pan BS, Bender PL, Chini BA, Greenberg JM, Saal HM, Taylor JA, Elluru RG. Neonates with tongue-based airway obstruction: a systematic review. Otolaryngol Head Neck Surg. 2012; 146:8-18.
  4. Chartier-Harlin MC, Dachsel JC, Vilarino-Guell C, Lincoln SJ, Lepretre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destee A, Farrer MJ. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet. 2011; 89:398-406.
  5. Chen H, Zheng J, Xue L, Meng Y, Wang Y, Zheng B, Fang F, Shi S, Qiu Q, Jiang P, Lu Z, Mo JQ, Lu J, Guan MX. The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees. Eur J Hum Genet. 2012; 20:607-12.
  6. Cotney J, Leng J, Oh S, Demare LE, Reilly SK, Gerstein MB, Noonan JP. Chromatin state signatures associated with tissue-specific gene expression and enhancer activity in the embryonic limb. Genome Res. 2012; 22:1069-80.
  7. Ding L, Baye TM, He H, Zhang X, Kurowski BG, Martin LJ. Detection of associations with rare and common SNPs for quantitative traits: a nonparametric Bayes-based approach. BMC Proc. 2011; 5 Suppl 9:S10.
  8. Ding L, Wiener H, Abebe T, Altaye M, Go RC, Kercsmar C, Grabowski GA, Martin LJ, Hershey GK, Chakorborty R, Baye TM. Comparison of measures of marker informativeness for ancestry and admixture mapping. BMC Genomics. 2011; 12:622.
  9. Epstein TG, LeMasters GK, Bernstein DI, Ericksen MB, Martin LJ, Ryan PH, Biagini Myers JM, Butsch Kovacic MS, Lindsey MA, He H, Reponen T, Villareal MS, Lockey JE, Bernstein CK, Hershey GK. Genetic variation in small proline rich protein 2B as a predictor for asthma among children with eczema. Ann Allergy Asthma Immunol. 2012; 108:145-50.
  10. Grabowski GA, Charnas LW, Du H. (2012) Lysosomal Acid Lipase Deficiencies: The Wolman Disease/Cholesteryl Ester Storage Disease Spectrum. The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill. .
  11. Grabowski GA, Hopkin RJ. Lysosomal Storage Diseases. Harrison’s Principles of Internal Medicine. New York: McGraw-Hill; 2012:3191-3197.
  12. He H, Zhang X, Ding L, Baye TM, Kurowski BG, Martin LJ. Effect of population stratification analysis on false-positive rates for common and rare variants. BMC Proc. 2011; 5 Suppl 9:S116.
  13. He X, Galpin JD, Tropak MB, Mahuran D, Haselhorst T, von Itzstein M, Kolarich D, Packer NH, Miao Y, Jiang L, Grabowski GA, Clarke LA, Kermode AR. Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants. Glycobiology. 2012; 22:492-503.
  14. Kanetzke EE, Lynch J, Prows CA, Siegel RM, Myers MF. Perceived utility of parent-generated family health history as a health promotion tool in pediatric practice. Clin Pediatr (Phila). 2011; 50:720-8.
  15. Karns R, Zhang G, Sun G, Rao Indugula S, Cheng H, Havas-Augustin D, Novokmet N, Rudan D, Durakovic Z, Missoni S, Chakraborty R, Rudan P, Deka R. Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. Ann Hum Genet. 2012; 76:121-7.
  16. Kovacic MB, Myers JM, Wang N, Martin LJ, Lindsey M, Ericksen MB, He H, Patterson TL, Baye TM, Torgerson D, Roth LA, Gupta J, Sivaprasad U, Gibson AM, Tsoras AM, Hu D, Eng C, Chapela R, Rodriguez-Santana JR, Rodriguez-Cintron W, Avila PC, Beckman K, Seibold MA, Gignoux C, Musaad SM, Chen W, Burchard EG, Hershey GK. Identification of KIF3A as a novel candidate gene for childhood asthma using RNA expression and population allelic frequencies differences. PLoS One. 2011; 6:e23714.
  17. Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Kohler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab. 2012; 97:E257-67.
  18. Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T. Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord. 2011; 26:2039-44.
  19. Leon L, Tatituri RV, Grenha R, Sun Y, Barral DC, Minnaard AJ, Bhowruth V, Veerapen N, Besra GS, Kasmar A, Peng W, Moody DB, Grabowski GA, Brenner MB. Saposins utilize two strategies for lipid transfer and CD1 antigen presentation. Proc Natl Acad Sci U S A. 2012; 109:4357-64.
  20. Liou B, Grabowski GA. Is E326K glucocerebrosidase a polymorphic or pathological variant?. Mol Genet Metab. 2012; 105:528-9.
  21. Lu TX, Sherrill JD, Wen T, Plassard AJ, Besse JA, Abonia JP, Franciosi JP, Putnam PE, Eby M, Martin LJ, Aronow BJ, Rothenberg ME. MicroRNA signature in patients with eosinophilic esophagitis, reversibility with glucocorticoids, and assessment as disease biomarkers. J Allergy Clin Immunol. 2012; 129:1064-75 e9.
  22. Lu Z, Chen H, Meng Y, Wang Y, Xue L, Zhi S, Qiu Q, Yang L, Mo JQ, Guan MX. The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree. Eur J Hum Genet. 2011; 19:1181-6.
  23. Lynch J, Parrott A, Hopkin RJ, Myers M. Media coverage of direct-to-consumer genetic testing. J Genet Couns. 2011; 20:486-94.
  24. Martin LJ, Gupta J, Jyothula SS, Butsch Kovacic M, Biagini Myers JM, Patterson TL, Ericksen MB, He H, Gibson AM, Baye TM, Amirisetty S, Tsoras AM, Sha Y, Eissa NT, Hershey GK. Functional variant in the autophagy-related 5 gene promotor is associated with childhood asthma. PLoS One. 2012; 7:e33454.
  25. Martin LJ, Hinton RB, Zhang X, Cripe LH, Benson DW. Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve. Front Genet. 2011; 2:61.
  26. Martin LJ, Kissebah AH, Olivier M. Accounting for a quantitative trait locus for plasma triglyceride levels: utilization of variants in multiple genes. PLoS One. 2012; 7:e34614.
  27. Martin LJ, Lee SY, Couch SC, Morrison J, Woo JG. Shared genetic contributions of fruit and vegetable consumption with BMI in families 20 y after sharing a household. Am J Clin Nutr. 2011; 94:1138-43.
  28. Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 2011; 146:37-52.
  29. Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012; 71:304-13.
  30. Miller EM, Hopkin R, Bao L, Ware SM. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. Am J Med Genet A. 2012; 158A:533-40.
  31. Mushaben EM, Hershey GK, Pauciulo MW, Nichols WC, Le Cras TD. Chronic allergic inflammation causes vascular remodeling and pulmonary hypertension in BMPR2 hypomorph and wild-type mice. PLoS One. 2012; 7:e32468.
  32. Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA. The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. Pediatr Blood Cancer. 2012; 58:462-5.
  33. Myers KC, Bleesing JJ, Davies SM, Zhang X, Martin LJ, Mueller R, Harris RE, Filipovich AH, Kovacic MB, Wells SI, Mehta PA. Impaired immune function in children with Fanconi anaemia. Br J Haematol. 2011; 154:234-40.
  34. Myers M, Baugh C. Genetic contribution to health in Appalachia. Appalachian Health and Well-Being. Lexington, KY: University Press of Kentucky; 2012.
  35. Myers MF. Health care providers and direct-to-consumer access and advertising of genetic testing in the United States. Genome Med. 2011; 3:81.
  36. Myers MF, Bernhardt BA. Direct-to-Consumer Genetic Testing: Introduction to the Special Issue. J Genet Couns. 2012; 21:357-60.
  37. Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC, Myers RH, Foroud T, DeStefano AL. Copy number variation in familial Parkinson disease. PLoS One. 2011; 6:e20988.
  38. Patek KJ, Kline-Fath BM, Hopkin RJ, Pilipenko VV, Crombleholme TM, Spaeth CG. Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes. Prenat Diagn. 2012; 32:75-82.
  39. Prada CE, Al Jasmi F, Kirk EP, Hopp M, Jones O, Leslie ND, Burrow TA. Cardiac disease in methylmalonic acidemia. J Pediatr. 2011; 159:862-4.
  40. Prada CE, Rangwala FA, Martin LJ, Lovell AM, Saal HM, Schorry EK, Hopkin RJ. Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J Pediatr. 2012; 160:461-7.
  41. Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ. Severe cervical scoliosis in the fetus. Prenat Diagn. 2011; 31:1198-202.
  42. Prada CE, Zarate YA, Hopkin RJ. Genetic causes of macroglossia: diagnostic approach. Pediatrics. 2012; 129:e431-7.
  43. Prochniak CF, Martin LJ, Miller EM, Knapke SC. Barriers to and motivations for physician referral of patients to cancer genetics clinics. J Genet Couns. 2012; 21:305-25.
  44. Prows DR, Gibbons WJ, Jr., Burzynski BB. Synchronizing allelic effects of opposing quantitative trait loci confirmed a major epistatic interaction affecting acute lung injury survival in mice. PLoS One. 2012; 7:e38177.
  45. Qian Y, Zhou X, Liang M, Qu J, Guan MX. The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation. Mitochondrion. 2011; 11:871-7.
  46. Raimundo N, Song L, Shutt TE, McKay SE, Cotney J, Guan MX, Gilliland TC, Hohuan D, Santos-Sacchi J, Shadel GS. Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness. Cell. 2012; 148:716-26.
  47. Sadhasivam S, Chidambaran V, Ngamprasertwong P, Esslinger HR, Prows C, Zhang X, Martin LJ, McAuliffe J. Race and unequal burden of perioperative pain and opioid related adverse effects in children. Pediatrics. 2012; 129:832-8.
  48. Saldana SN, Hooper DK, Froehlich TE, Campbell KM, Prows CA, Sadhasivam S, Nick TG, Seid M, Vinks AA, Glauser TA. Characteristics of successful recruitment in prospective pediatric pharmacogenetic studies. Clin Ther. 2011; 33:2072-81.
  49. Saltzman RW, Monaco-Shawver L, Zhang K, Sullivan KE, Filipovich AH, Orange JS. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity. J Allergy Clin Immunol. 2012; 129:1666-8.
  50. Sardi SP, Clarke J, Kinnecom C, Tamsett TJ, Li L, Stanek LM, Passini MA, Grabowski GA, Schlossmacher MG, Sidman RL, Cheng SH, Shihabuddin LS. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A. 2011; 108:12101-6.
  51. Sheridan R, Lampe K, Shanmukhappa SK, Putnam P, Keddache M, Divanovic S, Bezerra J, Hoebe K. Lampe1: an ENU-germline mutation causing spontaneous hepatosteatosis identified through targeted exon-enrichment and next-generation sequencing. PLoS One. 2011; 6:e21979.
  52. Sivakumaran TA, Igo RP, Jr., Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BE, Nickerson DA, Eichler EE, Iyengar SK. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One. 2011; 6:e25598.
  53. Stottmann RW, Moran JL, Turbe-Doan A, Driver E, Kelley M, Beier DR. Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics. 2011; 188:615-24.
  54. Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR. Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. PLoS Genet. 2011; 7:e1002224.
  55. Sun Y, Liou B, Xu YH, Quinn B, Zhang W, Hamler R, Setchell KD, Grabowski GA. Ex vivo and in vivo effects of isofagomine on acid beta-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem. 2012; 287:4275-87.
  56. Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011; 12:R91.
  57. Tonkin E, Calzone K, Jenkins J, Lea D, Prows C. Genomic Education Resources for Nursing Faculty. J Nurs Scholarsh. 2011; 43:330-340.
  58. Urbina EM, Gao Z, Khoury PR, Martin LJ, Dolan LM. Insulin resistance and arterial stiffness in healthy adolescents and young adults. Diabetologia. 2012; 55:625-31.
  59. Wagner LM, Smolarek TA, Sumegi J, Marmer D. Assessment of minimal residual disease in ewing sarcoma. Sarcoma. 2012; 2012:780129.
  60. Wang C, Wang Z, Prows DR, Wu R. A computational framework for the inheritance pattern of genomic imprinting for complex traits. Brief Bioinform. 2012; 13:34-45.
  61. Williams JK, Prows CA, Conley YP, Eggert J, Kirk M, Nichols F. Strategies to prepare faculty to integrate genomics into nursing education programs. J Nurs Scholarsh. 2011; 43:231-238.
  62. Woo JG, Guerrero ML, Guo F, Martin LJ, Davidson BS, Ortega H, Ruiz-Palacios GM, Morrow AL. Human milk adiponectin affects infant weight trajectory during the second year of life. J Pediatr Gastroenterol Nutr. 2012; 54:532-9.
  63. Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. BMC Med Genet. 2011; 12:169.
  64. Yadav JS, Pradhan S, Kapoor R, Bangar H, Burzynski BB, Prows DR, Levin L. Multigenic control and sex bias in host susceptibility to spore-induced pulmonary anthrax in mice. Infect Immun. 2011; 79:3204-15.
  65. Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX. Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. Journal of Medical Genetics. 2011; 48:682-90.
  66. Zhang G, Karns R, Sun G, Indugula SR, Cheng H, Havas-Augustin D, Novokmet N, Rudan D, Durakovic Z, Missoni S, Chakraborty R, Rudan P, Deka R. Extent of height variability explained by known height-associated genetic variants in an isolated population of the Adriatic coast of Croatia. PLoS One. 2011; 6:e29475.
  67. Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011; 118:5794-8.
  68. Zhang X, He H, Ding L, Baye TM, Kurowski BG, Martin LJ. Family- and population-based designs identify different rare causal variants. BMC Proc. 2011; 5 Suppl 9:S36.
  69. Zheng J, Ji Y, Guan MX. Mitochondrial tRNA mutations associated with deafness. Mitochondrion. 2012; 12:406-13.
  70. Zhou X, Fang M, Li J, Prows DR, Yang R. Characterization of genomic imprinting effects and patterns with parametric accelerated failure time model. Mol Genet Genomics. 2012; 287:67-75.
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