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CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.
Dajani R, Li J, Wei Z, Glessner JT, Chang X, Cardinale CJ, Pellegrino R, Wang T, Hakooz N, Khader Y, Sheshani A, Zandaki D, Hakonarson H. Dajani R, et al. Among authors: pellegrino r. Sci Rep. 2015 Aug 21;5:13391. doi: 10.1038/srep13391. Sci Rep. 2015. PMID: 26292654 Free PMC article.
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.
Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF. Matsunami N, et al. Among authors: pellegrino r. Mol Autism. 2014 Jan 27;5(1):5. doi: 10.1186/2040-2392-5-5. Mol Autism. 2014. PMID: 24467814 Free PMC article.
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM. Araujo AN, et al. Among authors: pellegrino r. J Clin Endocrinol Metab. 2014 Jun;99(6):E1104-12. doi: 10.1210/jc.2013-2993. Epub 2014 Mar 6. J Clin Endocrinol Metab. 2014. PMID: 24601688
A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI. Pellegrino R, et al. Sleep. 2014 Aug 1;37(8):1327-36. doi: 10.5665/sleep.3924. Sleep. 2014. PMID: 25083013 Free PMC article.
Thus, clock mechanisms are likely involved in setting sleep length and the magnitude of sleep homeostasis. CITATION: Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI. ...
Thus, clock mechanisms are likely involved in setting sleep length and the magnitude of sleep homeostasis. CITATION: Pellegrino R …
Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.
Li J, Fung I, Glessner JT, Pandey R, Wei Z, Bakay M, Mentch FD, Pellegrino R, Wang T, Kim C, Hou C, Wang F, Chiavacci RM, Thomas KA, Spergel JM, Hakonarson H, Sleiman PM. Li J, et al. Among authors: pellegrino r. J Immunol. 2015 Aug 15;195(4):1599-607. doi: 10.4049/jimmunol.1402310. Epub 2015 Jul 17. J Immunol. 2015. PMID: 26188062
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C. Almoguera B, et al. Among authors: pellegrino r. PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015. PLoS One. 2015. PMID: 26197217 Free PMC article.
Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.
Gadelha A, Coleman J, Breen G, Mazzoti DR, Yonamine CM, Pellegrino R, Ota VK, Belangero SI, Glessner J, Sleiman P, Hakonarson H, Hayashi MA, Bressan RA. Gadelha A, et al. Among authors: pellegrino r. Schizophr Res. 2016 Apr;172(1-3):60-7. doi: 10.1016/j.schres.2016.01.043. Epub 2016 Feb 2. Schizophr Res. 2016. PMID: 26851141 Free article.
An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.
Lima Lde A, Feio-dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H. Lima Lde A, et al. Among authors: pellegrino r. Sci Rep. 2016 Mar 7;6:22851. doi: 10.1038/srep22851. Sci Rep. 2016. PMID: 26947246 Free PMC article.
Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.
Lima Lde A, Feio-Dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H. Lima Lde A, et al. Among authors: pellegrino r. Sci Rep. 2016 May 24;6:25861. doi: 10.1038/srep25861. Sci Rep. 2016. PMID: 27216920 Free PMC article. No abstract available.
513 results