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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M; Undiagnosed Diseases Network; Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. Guillen Sacoto MJ, et al. Among authors: numis al. Am J Hum Genet. 2020 Aug 6;107(2):352-363. doi: 10.1016/j.ajhg.2020.06.013. Epub 2020 Jul 20. Am J Hum Genet. 2020. PMID: 32693025 Free PMC article.
Leveraging expertise and optimizing clinical research: Initial success of a pediatric epilepsy surgery collaborative.
Berl MM, Koop JI, Ailion A, Bearden DJ, Boyer K, Cooper CM, Decrow AM, Duong PH, Espe-Pfeifer P, Gabriel M, Hodges E, Marshall DF, McNally KA, Molnar AE, Olsen EK, Ono KE, Patrick KE, Paul BM, Romain J, Sepeta LN, Stilp RLH, Wilkening GN, Zaccariello M, Zelko F, Perry MS; PERC Surgery Workgroup. Berl MM, et al. Epilepsia. 2023 Jun;64(6):1554-1567. doi: 10.1111/epi.17579. Epub 2023 Mar 24. Epilepsia. 2023. PMID: 36897767
Responsive Neurostimulation in Drug-Resistant Pediatric Epilepsy: Findings From the Epilepsy Surgery Subgroup of the Pediatric Epilepsy Research Consortium.
Singh RK, Eschbach K, Samanta D, Perry MS, Liu G, Alexander AL, Wong-Kisiel L, Ostendorf A, Tatachar P, Reddy SB, McCormack MJ, Manuel CM, Gonzalez-Giraldo E, Numis AL, Wolf S, Karia S, Karakas C, Olaya J, Shrey D, Auguste KI, Depositario-Cabacar D; PERC Surgery Registry Workgroup. Singh RK, et al. Among authors: numis al. Pediatr Neurol. 2023 Jun;143:106-112. doi: 10.1016/j.pediatrneurol.2023.03.001. Epub 2023 Mar 10. Pediatr Neurol. 2023. PMID: 37084698
Early and effective treatment of KCNQ2 encephalopathy.
Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR. Pisano T, et al. Among authors: numis al. Epilepsia. 2015 May;56(5):685-91. doi: 10.1111/epi.12984. Epub 2015 Apr 16. Epilepsia. 2015. PMID: 25880994 Free article.
44 results