Human Genetics

Human Genetics Publications

  1. Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol. 2013; 4:107-13.
  2. Bandyopadhyay U, Cotney J, Nagy M, Oh S, Leng J, Mahajan M, Mane S, Fenton WA, Noonan JP, Horwich AL. RNA-Seq profiling of spinal cord motor neurons from a presymptomatic SOD1 ALS mouse. PLoS One. 2013; 8:e53575.
  3. Berger KA, Lynch J, Prows CA, Siegel RM, Myers MF. Mothers' perceptions of family health history and an online, parent-generated family health history tool. Clin Pediatr (Phila). 2013; 52:74-81.
  4. Bous SM, Solomon BD, Graul-Neumann L, Neitzel H, Hardisty EE, Muenke M. Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature. Clin Dysmorphol. 2012; 21:183-90.
  5. Burrow TA, Grabowski GA. Emerging Treatments and Future Outcomes. In: A Mehta, B Winchester, eds. Lysosomal Storage Disorders: A Practical Guide. New York: John Wiley & Sons, Ltd; 2013:174-180.
  6. Chen X, Yang Y, Huang Y, Tan J, Chen Y, Yang J, Dou H, Zou L, Yu J, Bao L. WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute myeloid leukemia in a Chinese population. Leuk Lymphoma. 2012; 53:2195-204.
  7. Dai Y, Yang J, Chen Y, Bao L, Cheng Q. Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. Pediatr Int. 2013; 55:368-70.
  8. Esmailpour T, Huang T. TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner. Stem Cells. 2012; 30:2152-63.
  9. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Jr., Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, C NK, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR. Seven new loci associated with age-related macular degeneration. Nat Genet. 2013; 45:433-9, 439e1-2.
  10. Fukuda T, Goebel J, Cox S, Maseck D, Zhang K, Sherbotie JR, Ellis EN, James LP, Ward RM, Vinks AA. UGT1A9, UGT2B7, and MRP2 genotypes can predict mycophenolic acid pharmacokinetic variability in pediatric kidney transplant recipients. Ther Drug Monit. 2012; 34:671-9.
  11. Gao H, Liu Y, Zhang T, Yang R, Prows DR. Parametric proportional hazards model for mapping genomic imprinting of survival traits. J Appl Genet. 2013; 54:79-88.
  12. George-Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Hopkin RJ, Stevens AM, Hanson H, Schorry EK. Fractures in children with neurofibromatosis type 1 from two NF clinics. Am J Med Genet A. 2013; 161A:921-6.
  13. George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ. Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation. Am J Med Genet A. 2012; 158A:1971-6.
  14. Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, Clark PO, Adamson PC, Childhood Absence Epilepsy Study T. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. Epilepsia. 2013; 54:141-55.
  15. Grabowski GA. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012; 2012:13-18.
  16. Greinwald J, Dealarcon A, Cohen A, Uwiera T, Zhang K, Benton C, Halstead M, Meinzen-Derr J. Significance of unilateral enlarged vestibular aqueduct. Laryngoscope. 2013; 123:1537-46.
  17. Grote L, Myers M, Lovell A, Saal H, Lipscomb Sund K. Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing. Genet Med. 2012; 14:971-6.
  18. He XY, Wang XB, Zhang R, Yuan ZJ, Tan JJ, Peng B, Huang Y, Liu EM, Fu Z, Bao LM, Zou L. Investigation of Mycoplasma pneumoniae infection in pediatric population from 12,025 cases with respiratory infection. Diagn Microbiol Infect Dis. 2013; 75:22-7.
  19. Hinks A, Cobb J, Marion MC, Prahalad S, Sudman M, Bowes J, Martin P, Comeau ME, Sajuthi S, Andrews R, Brown M, Chen WM, Concannon P, Deloukas P, Edkins S, Eyre S, Gaffney PM, Guthery SL, Guthridge JM, Hunt SE, James JA, Keddache M, Moser KL, Nigrovic PA, Onengut-Gumuscu S, Onslow ML, Rosé CD, Rich SS, Steel KJ, Wakeland EK, Wallace CA, Wedderburn LR, Woo P, Bohnsack JF, Haas JP, Glass DN, Langefeld CD, Thomson W, Thompson SD. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet. 2013; 45:664-9.
  20. Hogart A, Lichtenberg J, Ajay SS, Anderson S, Center NIHIS, Margulies EH, Bodine DM. Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites. Genome Res. 2012; 22:1407-18.
  21. Huber AK, Finkelman FD, Li CW, Concepcion E, Smith E, Jacobson E, Latif R, Keddache M, Zhang W, Tomer Y. Genetically driven target tissue overexpression of CD40: a novel mechanism in autoimmune disease. J Immunol. 2012; 189:3043-53.
  22. Hufnagel RB, Ahmed ZM, Correa ZM, Sisk RA. Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol. 2012; 250:1117-28.
  23. Hufnagel RB, Riesenberg AN, Quinn M, Brzezinski JA 4th, Glaser T, Brown NL. Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exit. Mol Cell Neurosci. 2013; 54:108-20.
  24. Hutton JJ, Dexheimer P, Grabowski GA. Genetic Variation and Gene Discovery . In: X Wang, ed. Pediatric Biomedical Informatics Computer Applications in Biomedical Research. Heidlberg; New York; London: Springer; 2013:379-393.
  25. Johnson KJ, Fisher MJ, Listernick RL, North KN, Schorry EK, Viskochil D, Weinstein M, Rubin JB, Gutmann DH. Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Fam Cancer. 2012; 11:653-6.
  26. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012; 35:1037-49.
  27. Kamath-Rayne BD, Saal H, Lang S, Habli M. Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation. Obstet Gynecol. 2013; 121:499-501.
  28. Kansra AR, Dolan LM, Martin LJ, Deka R, Chernausek SD. IGF receptor gene variants in normal adolescents: effect on stature. Eur J Endocrinol. 2012; 167:777-81.
  29. Karsten CM, Pandey MK, Figge J, Kilchenstein R, Taylor PR, Rosas M, McDonald JU, Orr SJ, Berger M, Petzold D, Blanchard V, Winkler A, Hess C, Reid DM, Majoul IV, Strait RT, Harris NL, Köhl G, Wex E, Ludwig R, Zillikens D, Nimmerjahn F, Finkelman FD, Brown GD, Ehlers M, Köhl J. Anti-inflammatory activity of IgG1 mediated by Fc galactosylation and association of FcγRIIB and dectin-1. Nat Med. 2012; 18:1401-6.
  30. Kim D, Yan Y, Valencia CA, Liu R. Heptameric targeting ligands against EGFR and HER2 with high stability and avidity. PLoS One. 2012; 7:e43077.
  31. Klein BE, Howard KP, Lee KE, Iyengar SK, Sivakumaran TA, Klein R. The relationship of cataract and cataract extraction to age-related macular degeneration: the Beaver Dam Eye Study. Ophthalmology. 2012; 119:1628-33.
  32. Klein R, Cruickshanks KJ, Myers CE, Sivakumaran TA, Iyengar SK, Meuer SM, Schubert CR, Gangnon RE, Klein BE. The Relationship of Atherosclerosis to the 10-Year Cumulative Incidence of Age-related Macular Degeneration: The Beaver Dam Studies. Ophthalmology. 2013; 120:1012-9.
  33. Klein R, Myers CE, Meuer SM, Gangnon RE, Sivakumaran TA, Iyengar SK, Lee KE, Klein BE. Risk alleles in CFH and ARMS2 and the long-term natural history of age-related macular degeneration: the Beaver Dam Eye Study. JAMA Ophthalmol. 2013; 131:383-92.
  34. Kottyan LC, Woo JG, Keddache M, Banach W, Crimmins NA, Dolan LM, Martin LJ. Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes. SpringerPlus. 2012; 1:66.
  35. Kurowski B, Martin LJ, Wade SL. Genetics and outcomes after traumatic brain injury (TBI): what do we know about pediatric TBI?. J Pediatr Rehabil Med. 2012; 5:217-31.
  36. Leikauf GD, Pope-Varsalona H, Concel VJ, Liu P, Bein K, Berndt A, Martin TM, Ganguly K, Jang AS, Brant KA, Dopico RA, Jr., Upadhyay S, Di YP, Li Q, Hu Z, Vuga LJ, Medvedovic M, Kaminski N, You M, Alexander DC, McDunn JE, Prows DR, Knoell DL, Fabisiak JP. Integrative assessment of chlorine-induced acute lung injury in mice. Am J Respir Cell Mol Biol. 2012; 47:234-44.
  37. Leikauf GD, Prows DR. Inorganic Compounds of Carbon, Nitrogen and Oxygen. In: E Bingham, B Cohrssen, eds. Patty's Toxicology. New York: Wiley & Sons; 2012:949-1032.
  38. Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Mutation mapping and identification by whole-genome sequencing. Genome Res. 2012; 22:1541-8.
  39. Liu B, Ha M, Meng X-Y, Khaleduzzaman M, Zhang Z, Li X, Cui M. Functional characterization of the heterodimeric sweet taste receptor T1R2 and T1R3 from a New World monkey species (squirrel monkey) and its response to sweet-tasting proteins. Biochem Biophys Res Commun. 2012; 427:431-437.
  40. Lu TX, Lim EJ, Wen T, Plassard AJ, Hogan SP, Martin LJ, Aronow BJ, Rothenberg ME. MiR-375 is downregulated in epithelial cells after IL-13 stimulation and regulates an IL-13-induced epithelial transcriptome. Mucosal Immunol. 2012; 5:388-96.
  41. Lyddon R, Dwork AJ, Keddache M, Siever LJ, Dracheva S. Serotonin 2c receptor RNA editing in major depression and suicide. World J Biol Psychiatry. 2012; Epub.
  42. Maglo KN, Martin LJ. Researching vs. Reifying Race: The Case of Obesity Research. Humana Mente: Journal of Philosophical Studies. 2012; 22:111-143.
  43. Maradiegue AH, Lyon DE, Meyers MF. Using family history and health risk behaviors to determine predictors of depressive symptoms in Central American immigrant mothers. Nurs Health Sci. 2012; Epub.
  44. Mellor-Heineke S, Villanueva J, Jordan MB, Marsh R, Zhang K, Bleesing JJ, Filipovich AH, Risma KA. Elevated Granzyme B in Cytotoxic Lymphocytes is a Signature of Immune Activation in Hemophagocytic Lymphohistiocytosis. Front Immunol. 2013; 4:72.
  45. Miao J, Chen Q, Bao L, Huang Y, Zhang J, Wan K, Yi J, Wang S, Zou L, Li T. Determination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates. Clin Chim Acta. 2013; 424C:131-135.
  46. Najafian B, Mauer M, Hopkin RJ, Svarstad E. Renal complications of Fabry disease in children. Pediatr Nephrol. 2013; 28:679-87.
  47. Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013; 70:727-35.
  48. Namjou B, Keddache M, Fletcher D, Dillon S, Kottyan L, Wiley G, Gaffney PM, Wakeland BE, Liang C, Wakeland EK, Scofield RH, Kaufman K, Harley JB. Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency. Lupus. 2012; 21:1113-8.
  49. Nebert DW, Zhang G. Personalized medicine: temper expectations. Science. 2012; 337:910; author reply 910-1.
  50. Nebert DW, Zhang G, Vesell ES. Genetic risk prediction: individualized variability in susceptibility to toxicants. Annu Rev Pharmacol Toxicol. 2013; 53:355-75.
  51. Oh S, Song S, Grabowski G, Zhao H, Noonan JP. Time series expression analyses using RNA-seq: a statistical approach. BioMed Res Int. 2013; 2013:203681.
  52. Pandey MK, Grabowski GA. Immunological cells and functions in Gaucher disease. Crit Rev Oncog. 2013; 18:197-220.
  53. Pandey MK, Rani R, Zhang W, Setchell K, Grabowski GA. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Mol Genet Metab. 2012; 106:310-22.
  54. Park J, Liang D, Kim JW, Luo Y, Huang T, Kim SY, Chang SS. Nail DNA and possible biomarkers: a pilot study. J Prev Med Public Health. 2012; 45:235-43.
  55. Park JK, Martin LJ, Zhang X, Jegga AG, Benson DW. Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Heart Rhythm. 2012; 9:1090-6.
  56. Phillips CL, Davies SM, McMasters R, Absalon M, O'Brien M, Mo J, Broun R, Moscow JA, Smolarek T, Garzon R, Blum W, Schwind S, Marcucci G, Perentesis JP. Low dose decitabine in very high risk relapsed or refractory acute myeloid leukaemia in children and young adults. Br J Haematol. 2013; 161:406-10.
  57. Prada CE, Grabowski GA. Neuronopathic lysosomal storage diseases: Clinical and pathologic findings. Dev Disabil Res Rev. 2013; 17:226-46.
  58. Prada CE, Jefferies JL, Grenier MA, Huth CM, Page KI, Spicer RL, Towbin JA, Leslie ND. Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy. Pediatrics. 2012; 130:e456-60.
  59. Prada CE, Jousma E, Rizvi TA, Wu J, Dunn RS, Mayes DA, Cancelas JA, Dombi E, Kim MO, West BL, Bollag G, Ratner N. Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition. Acta Neuropathol. 2013; 125:159-68.
  60. Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA. Recurrent pancreatitis in ornithine transcarbamylase deficiency. Mol Genet Metab. 2012; 106:482-4.
  61. Prada CE, Zarate YA, Hopkin RJ. Genetic causes of macroglossia: diagnostic approach. Pediatrics. 2012; 129:e431-7.
  62. Prada CF, Alvarez-Velilla R, Diaz-González R, Prieto C, Pérez-Pertejo Y, Balaña-Fouce R, Reguera RM. A pentapeptide signature motif plays a pivotal role in Leishmania DNA topoisomerase IB activity and camptothecin sensitivity. Biochim Biophys Acta. 2012; 1820:2062-71.
  63. Prows CA, Hopkin RJ, Barnoy S, Van Riper M. An update of childhood genetic disorders. Journal of Nursing Scholarship. 2013; 45:34-42.
  64. Qiu Q, Li R, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ, Guan MX. Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees. Hum Mutat. 2012; 33:1285-93.
  65. Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG. Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Mol Syndromol. 2013; 3:247-54.
  66. Ross LF, Saal HM, David KL, Anderson RR. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013; 15:234-45.
  67. Sadhasivam S, Krekels EH, Chidambaran V, Esslinger HR, Ngamprasertwong P, Zhang K, Fukuda T, Vinks AA. Morphine clearance in children: does race or genetics matter?. J Opioid Manag. 2012; 8:217-26.
  68. Schorry EK, Sites E. Clinical Expression of NF1 in Monozygotic Twins. In: M Upadhyaya, DN Cooper, eds. Neurofibromatosis Type 1. Heidelberg; New York; London: Springer; 2012:71-81.
  69. Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Jr., Zhang K. Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngol Head Neck Surg. 2013; 148:1007-16.
  70. Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet. 2012; 49:473-9.
  71. Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schaedle K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Wilkes D, Viskochil DH, Yang FC, Elefteriou F. Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium. J Pediatr Orthop. 2013; 33:269-75.
  72. Strehle EM, Gruszfeld D, Schenk D, Mehta SG, Simonic I, Huang T. The spectrum of 4q- syndrome illustrated by a case series. Gene. 2012; 506:387-91.
  73. Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A. 2012; 158A:2139-51.
  74. Sumegi J, Nestheide SV, Barnes MG, Villanueva J, Zhang K, Grom AA, Filipovich AH. Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. Blood. 2013; 121:e14-24.
  75. Sun Y, Grabowski GA. Altered autophagy in the mice with a deficiency of saposin A and saposin B. Autophagy. 2013; 9:1115-1116.
  76. Sun Y, Zamzow M, Ran H, Zhang W, Quinn B, Barnes S, Witte DP, Setchell KD, Williams MT, Vorhees CV, Grabowski GA. Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. Hum Mol Genet. 2013; 22:2435-50.
  77. Sun Y, Zhang W, Xu YH, Quinn B, Dasgupta N, Liou B, Setchell KD, Grabowski GA. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PLoS One. 2013; 8:e57560.
  78. Sund KL, Zimmerman SL, Thomas C, Mitchell AL, Prada CE, Grote L, Bao L, Martin LJ, Smolarek TA. Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. Genet Med. 2013; 15:70-8.
  79. Thompson SD, Marion MC, Sudman M, Ryan M, Tsoras M, Howard TD, Barnes MG, Ramos PS, Thomson W, Hinks A, Haas JP, Prahalad S, Bohnsack JF, Wise CA, Punaro M, Rosé CD, Pajewski NM, Spigarelli M, Keddache M, Wagner M, Langefeld CD, Glass DN. Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. Arthritis Rheum. 2012; 64:2781-91.
  80. Tomer Y, Hasham A, Davies TF, Stefan M, Concepcion E, Keddache M, Greenberg DA. Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes. J Clin Endocr Metab. 2013; 98:E144-52.
  81. Tran PV, Lachke SA, Stottmann RW. Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile. Wiley Interdiscip Rev Syst Biol Med. 2013; 5:83-100.
  82. Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M. Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One. 2013; 8:e53083.
  83. Valencia CA, Sivakumaran TA, Tinkle BT, Husami A, Zhang K. NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders. In: L-JC Wong, ed. Next Generation Sequencing. New York: Springer; 2013:115-150.
  84. Valencia CA, Zou J, Liu R. In vitro selection of proteins with desired characteristics using mRNA-display. Methods. 2013; 60:55-69.
  85. van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012; 107:456-61.
  86. Vithana EN, Khor CC, Qiao C, Nongpiur ME, George R, Chen LJ, Do T, Abu-Amero K, Huang CK, Low S, Tajudin LS, Perera SA, Cheng CY, Xu L, Jia H, Ho CL, Sim KS, Wu RY, Tham CC, Chew PT, Su DH, Oen FT, Sarangapani S, Soumittra N, Osman EA, Wong HT, Tang G, Fan S, Meng H, Huong DT, Wang H, Feng B, Baskaran M, Shantha B, Ramprasad VL, Kumaramanickavel G, Iyengar SK, How AC, Lee KY, Sivakumaran TA, Yong VH, Ting SM, Li Y, Wang YX, Tay WT, Sim X, Lavanya R, Cornes BK, Zheng YF, Wong TT, Loon SC, Yong VK, Waseem N, Yaakub A, Chia KS, Allingham RR, Hauser MA, Lam DS, Hibberd ML, Bhattacharya SS, Zhang M, Teo YY, Tan DT, Jonas JB, Tai ES, Saw SM, Hon do N, Al-Obeidan SA, Liu J, Chau TN, Simmons CP, Bei JX, Zeng YX, Foster PJ, Vijaya L, Wong TY, Pang CP, Wang N, Aung T. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2012; 44:1142-6.
  87. Wittkowski KM, Sonakya V, Song T, Seybold MP, Keddache M, Durner M. From single-SNP to wide-locus: genome-wide association studies identifying functionally related genes and intragenic regions in small sample studies. Pharmacogenomics. 2013; 14:391-401.
  88. Woo JG, Martin LJ, Ding L, Brown WM, Howard TD, Langefeld CD, Moomaw CJ, Haverbusch M, Sun G, Indugula SR, Cheng H, Deka R, Woo D. Quantitative criteria for improving performance of buccal DNA for high-throughput genetic analysis. BMC Genet. 2012; 13:75.
  89. Yang J, Yang Y, Huang Y, Hu Y, Chen X, Sun H, Lv Z, Cheng Q, Bao L. A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment. BMC Genet. 2013; 14:9.
  90. Zhang C, Huang VH, Simon M, Sharma LK, Fan W, Haas R, Wallace DC, Bai Y, Huang T. Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions. FASEB J. 2012; 26:4914-24.
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