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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: goodkin hp. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Pediatric status epilepticus management by Emergency Medical Services (the pSERG cohort).
Amengual-Gual M, Sánchez Fernández I, Vasquez A, Abend NS, Anderson A, Arya R, Barcia Aguilar C, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Lai YC, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Reece L, Riviello JJ, Sannagowdara K, Sheehan T, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG). Amengual-Gual M, et al. Among authors: goodkin hp. Seizure. 2023 Oct;111:51-55. doi: 10.1016/j.seizure.2023.07.010. Epub 2023 Jul 16. Seizure. 2023. PMID: 37523933
Pediatric Status Epilepticus: Treat Early and Avoid Delays.
Morgan LA, Hrachovec JB, Goodkin HP. Morgan LA, et al. Among authors: goodkin hp. Paediatr Drugs. 2023 Jul;25(4):411-424. doi: 10.1007/s40272-023-00570-1. Epub 2023 May 13. Paediatr Drugs. 2023. PMID: 37178271 Review.
Leveraging electronic patient diaries in SUDEP risk evaluation.
Berl MM, Moss R, Bumbut A, Donner EJ, Gaillard WD, Goodkin HP, Grinspan ZM, Kroner BL, Mbwana J, Patel AD, Lapham G. Berl MM, et al. Among authors: goodkin hp. Epilepsy Res. 2022 May;182:106924. doi: 10.1016/j.eplepsyres.2022.106924. Epub 2022 Apr 11. Epilepsy Res. 2022. PMID: 35436674
120 results