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Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Hunter JM, et al. Among authors: de los reyes e. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006180. doi: 10.1101/mcs.a006180. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091509 Free PMC article.
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Ramadesikan S, et al. Among authors: de los reyes e. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091508 Free PMC article.
Current knowledge of SLC6A1-related neurodevelopmental disorders.
Goodspeed K, Pérez-Palma E, Iqbal S, Cooper D, Scimemi A, Johannesen KM, Stefanski A, Demarest S, Helbig KL, Kang J, Shaffo FC, Prentice B, Brownstein CA, Lim B, Helbig I, De Los Reyes E, McKnight D, Crunelli V, Campbell AJ, Møller RS, Freed A, Lal D. Goodspeed K, et al. Among authors: de los reyes e. Brain Commun. 2020 Oct 13;2(2):fcaa170. doi: 10.1093/braincomms/fcaa170. eCollection 2020. Brain Commun. 2020. PMID: 33241211 Free PMC article. Review.
Danon disease: an unusual presentation of autism.
Burusnukul P, de Los Reyes EC, Yinger J, Boué DR. Burusnukul P, et al. Pediatr Neurol. 2008 Jul;39(1):52-4. doi: 10.1016/j.pediatrneurol.2008.03.011. Pediatr Neurol. 2008. PMID: 18555174
Language Regression in an Atypical SLC6A1 Mutation.
Islam MP, Herman GE, de Los Reyes EC. Islam MP, et al. Among authors: de los reyes ec. Semin Pediatr Neurol. 2018 Jul;26:25-27. doi: 10.1016/j.spen.2018.04.001. Semin Pediatr Neurol. 2018. PMID: 29961511
Pharmacological Intervention in Children with Autism Spectrum Disorder with Standard Supportive Therapies Significantly Improves Core Signs and Symptoms: A Single-Center, Retrospective Case Series.
Alsayouf HA, Talo H, Biddappa ML, Qasaymeh M, Qasem S, De Los Reyes E. Alsayouf HA, et al. Among authors: de los reyes e. Neuropsychiatr Dis Treat. 2020 Nov 16;16:2779-2794. doi: 10.2147/NDT.S277294. eCollection 2020. Neuropsychiatr Dis Treat. 2020. PMID: 33235453 Free PMC article.
57 results