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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S. Farwell Hagman KD, et al. Among authors: nunes me. Genet Med. 2017 Feb;19(2):224-235. doi: 10.1038/gim.2016.95. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513193 Free PMC article.
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group. von Spiczak S, et al. Among authors: nunes me. Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30. Neurology. 2017. PMID: 28667181 Free PMC article.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S. Farwell Hagman KD, et al. Among authors: nunes me. Genet Med. 2018 Sep;20(9):1099-1102. doi: 10.1038/gim.2017.263. Genet Med. 2018. PMID: 29388939 Free PMC article.
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM. Khan AA, et al. Among authors: nunes me. Osteoporos Int. 2024 Mar;35(3):431-438. doi: 10.1007/s00198-023-06844-1. Epub 2023 Nov 20. Osteoporos Int. 2024. PMID: 37982857 Free PMC article. Review.
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.
Rush E, Brandi ML, Khan A, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Starling SR, Ward L, Yao L, Brignardello-Petersen R, Simmons JH. Rush E, et al. Among authors: nunes me. Osteoporos Int. 2024 Jan;35(1):1-10. doi: 10.1007/s00198-023-06843-2. Epub 2023 Nov 20. Osteoporos Int. 2024. PMID: 37982855 Free PMC article. Review.
Investigating the impact of Psidium guajava leaf hydroalcoholic extract in improving glutamatergic toxicity-induced oxidative stress in Danio rerio larvae.
Lopes AR, Costa Silva DG, Rodrigues NR, Kemmerich Martins I, Paganotto Leandro L, Nunes MEM, Posser T, Franco J. Lopes AR, et al. Among authors: nunes mem. J Toxicol Environ Health A. 2024 Jun 2;87(11):457-470. doi: 10.1080/15287394.2024.2337366. Epub 2024 Apr 4. J Toxicol Environ Health A. 2024. PMID: 38576186
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Michael Lewiecki E. Khan AA, et al. Among authors: nunes me. Osteoporos Int. 2024 May;35(5):933-934. doi: 10.1007/s00198-024-07048-x. Osteoporos Int. 2024. PMID: 38498158 No abstract available.
Altitudinal distribution and body condition of migratory fish juveniles Megaleporinus obtusidens (Valenciennes) and Salminus brasiliensis (Cuvier) in the main channel of the Uruguay River, Southern Brazil.
Mounic-Silva CE, Porto-Ferreira LSB, Nunes ME, Zaniboni-Filho E, Nuñer APO. Mounic-Silva CE, et al. Among authors: nunes me. Braz J Biol. 2024 Feb 26;84:e276197. doi: 10.1590/1519-6984.276197. eCollection 2024. Braz J Biol. 2024. PMID: 38422283 Free article.
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Jackson S, Freeman R, Noronha A, Jamil H, Chavez E, Carmichael J, Ruiz KM, Miller C, Benke S, Perrot R, Hockley M, Murphy K, Casillan A, Radanovich L, Deforest R, Nunes ME, Galarreta-Aima C, Sidlow R, Einhorn Y, Woods J. Jackson S, et al. Among authors: nunes me. Am J Med Genet A. 2024 May;194(5):e63505. doi: 10.1002/ajmg.a.63505. Epub 2024 Jan 2. Am J Med Genet A. 2024. PMID: 38168469
61 results