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Page 1
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.
Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Santucci K, et al. Among authors: angione k. Clin Genet. 2024 Oct 10. doi: 10.1111/cge.14626. Online ahead of print. Clin Genet. 2024. PMID: 39390634
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Abbott M, et al. Among authors: angione k. Am J Med Genet A. 2024 Oct;194(10):e63725. doi: 10.1002/ajmg.a.63725. Epub 2024 May 22. Am J Med Genet A. 2024. PMID: 38775384
CDKL5 Deficiency Disorder.
Benke TA, Demarest S, Angione K, Downs J, Leonard H, Saldaris J, Marsh ED, Olson H, Haviland I. Benke TA, et al. Among authors: angione k. 2024 Apr 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Apr 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38603524 Free Books & Documents. Review.
SLC6A1-Related Neurodevelopmental Disorder.
Goodspeed K, Demarest S, Johannesen K, Kang J, Lal D, Angione K. Goodspeed K, et al. Among authors: angione k. 2023 Feb 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Feb 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36780407 Free Books & Documents. Review.
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: angione k. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
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