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Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, Baxter S, Brand H, Bryant S, Buser N, de Menil V, Eastman E, Murugasen S, Galvin A, Kombe M, Ngombo A, Mkubwa B, Mwangi P, Kipkoech C, Lovgren A, MacArthur DG, Melly B, Mwangasha K, Martin A, Nkambule LL, Sanchis-Juan A, Singer-Berk M, Talkowski ME, VanNoy G, van der Merwe C; NeuroDev Project; Newton C, O'Donnell-Luria A, Abubakar A, Donald KA, Robinson EB. Kipkemoi P, et al. Among authors: donald ka. Neuron. 2023 Sep 20;111(18):2800-2810.e5. doi: 10.1016/j.neuron.2023.06.010. Epub 2023 Jul 17. Neuron. 2023. PMID: 37463579 Free article.
Autism Spectrum Disorders in Africa: Current Challenges in Identification, Assessment, and Treatment: A Report on the International Child Neurology Association Meeting on ASD in Africa, Ghana, April 3-5, 2014.
Ruparelia K, Abubakar A, Badoe E, Bakare M, Visser K, Chugani DC, Chugani HT, Donald KA, Wilmshurst JM, Shih A, Skuse D, Newton CR. Ruparelia K, et al. Among authors: donald ka. J Child Neurol. 2016 Jul;31(8):1018-26. doi: 10.1177/0883073816635748. Epub 2016 Mar 15. J Child Neurol. 2016. PMID: 26979098 Free PMC article. Review.
The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa.
de Menil V, Hoogenhout M, Kipkemoi P, Kamuya D, Eastman E, Galvin A, Mwangasha K, de Vries J, Kariuki SM, Murugasen S, Mwangi P, Singh I, Stein DJ, Abubakar A, Newton CR, Donald KA, Robinson E. de Menil V, et al. Among authors: donald ka. Neuron. 2019 Jan 2;101(1):15-19. doi: 10.1016/j.neuron.2018.12.016. Neuron. 2019. PMID: 30605655 Free PMC article. Review.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network; Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A. Royer-Bertrand B, et al. Among authors: donald ka. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 Free PMC article.
What is next in African neuroscience?
Donald KA, Maina M, Patel N, Nguemeni C, Mohammed W, Abubakar A, Brown M, Stoyanova R, Welchman A, Walker N, Willett A, Kariuki SM, Figaji A, Stein DJ, Ihunwo AO, Daniels W, Newton CR. Donald KA, et al. Elife. 2022 Jun 22;11:e80488. doi: 10.7554/eLife.80488. Elife. 2022. PMID: 35731202 Free PMC article.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Among authors: donald ka. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
140 results