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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: yuskaitis cj. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Among authors: yuskaitis cj. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
Delays to care in infantile epileptic spasms syndrome: Racial and ethnic inequities.
Abath CB, Gupta N, Hadjinicolaou A, Donatelli S, Singh A, Merchant S, Ryan ME, Soby M, Ryan C, Nelson AK, Maldonado Pacheco JE, Zhang B, Williams DN, Yuskaitis CJ, Harini C. Abath CB, et al. Among authors: yuskaitis cj. Epilepsia. 2024 Jan;65(1):107-114. doi: 10.1111/epi.17827. Epub 2023 Dec 7. Epilepsia. 2024. PMID: 37953072
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. Among authors: yuskaitis cj. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Clinical characteristics of children with infantile epileptic spasms syndrome from a tertiary-care hospital in Dhaka, Bangladesh.
Abath CB, Chandra Saha N, Hoque SA, Islam A, Chowdhury YS, Ara Begum MS, Davalji Kanjiker TS, Yuskaitis CJ, Harini C, Alam MB, Mohammed QD, Mazumdar M. Abath CB, et al. Among authors: yuskaitis cj. Heliyon. 2023 Mar 5;9(3):e14323. doi: 10.1016/j.heliyon.2023.e14323. eCollection 2023 Mar. Heliyon. 2023. PMID: 36950644 Free PMC article.
Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms.
Yuskaitis CJ, Mytinger JR, Baumer FM, Zhang B, Liu S, Samanta D, Hussain SA, Yozawitz EG, Keator CG, Joshi C, Singh RK, Bhatia S, Bhalla S, Shellhaas R, Harini C; Pediatric Epilepsy Research Consortium. Yuskaitis CJ, et al. Neurology. 2022 Nov 29;99(22):e2494-e2503. doi: 10.1212/WNL.0000000000201232. Epub 2022 Aug 29. Neurology. 2022. PMID: 36038267 Free PMC article.
40 results