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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Muir AM, et al. Among authors: zafar m. Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473207 Free PMC article.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: zafar m. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
Source Localization of Normal Variants Seen on EEG.
Rahman S, Burch M, Parikh P, Zafar M. Rahman S, et al. Among authors: zafar m. J Clin Neurophysiol. 2024 Feb 1;41(2):155-160. doi: 10.1097/WNP.0000000000000948. Epub 2022 Sep 28. J Clin Neurophysiol. 2024. PMID: 38306223
Stereotactic EEG Practices: A Survey of United States Tertiary Referral Epilepsy Centers.
Gavvala J, Zafar M, Sinha SR, Kalamangalam G, Schuele S; American SEEG Consortium, supported by The American Clinical Neurophysiology Society. Gavvala J, et al. Among authors: zafar m. J Clin Neurophysiol. 2022 Sep 1;39(6):474-480. doi: 10.1097/WNP.0000000000000794. Epub 2020 Nov 10. J Clin Neurophysiol. 2022. PMID: 33181594
Vagus nerve stimulation therapy in people with drug-resistant epilepsy (CORE-VNS): rationale and design of a real-world post-market comprehensive outcomes registry.
Sen A, Verner R, Valeriano JP, Lee R, Zafar M, Thomas R, Kotulska K, Jespers E, Dibué M, Kwan P; CORE-VNS Registry Group. Sen A, et al. Among authors: zafar m. BMJ Neurol Open. 2021 Dec 23;3(2):e000218. doi: 10.1136/bmjno-2021-000218. eCollection 2021. BMJ Neurol Open. 2021. PMID: 35018342 Free PMC article.
1,262 results