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Page 1
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Che… See abstract for full author list ➔ McKnight D, et al. Among authors: lay son g. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Lacassie Y, Johnson B, Lay-Son G, Quintana R, King A, Cortes F, Alvarez C, Gomez R, Vargas A, Chalew S, King A, Guardia S, Sorensen RU, Aradhya S. Lacassie Y, et al. Among authors: lay son g. Am J Med Genet A. 2020 Jul;182(7):1767-1775. doi: 10.1002/ajmg.a.61597. Epub 2020 Apr 16. Am J Med Genet A. 2020. PMID: 32297715
Medical genetics and genetic counseling in Chile.
Margarit SB, Alvarado M, Alvarez K, Lay-Son G. Margarit SB, et al. J Genet Couns. 2013 Dec;22(6):869-74. doi: 10.1007/s10897-013-9607-1. Epub 2013 Jun 7. J Genet Couns. 2013. PMID: 23744184
Skeletal dysplasias in Latin America.
Cavalcanti DP, Fano V, Mellado C, Lacarrubba-Flores MDJ, Silveira C, Silveira KC, Del Pino M, Moresco A, Caino S, Ramos Mejía R, García CJ, Lay-Son G, Ferreira CR. Cavalcanti DP, et al. Among authors: lay son g. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):986-995. doi: 10.1002/ajmg.c.31861. Epub 2020 Nov 21. Am J Med Genet C Semin Med Genet. 2020. PMID: 33219737 Free PMC article. Review.
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, Posey JE, Lupski JR, Repetto GM. Poli MC, et al. Among authors: lay son g. Eur J Hum Genet. 2024 Jan 4. doi: 10.1038/s41431-023-01523-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38177409
20 results