top of page

At the Library

PUBLICATIONS

Publications

Zieff, M.R., Hoogenhout, M., Eastman, E. et al. Validity of the SNAP-IV For ADHD Assessment in South African Children With Neurodevelopmental Disorders. J Autism Dev Disord (2022). https://doi.org/10.1007/s10803-022-05530-1

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. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. PMID: 35980381.

Schalk A, Cousin MA, Dsouza NR et al., De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet. 2021 Dec 15:jmedgenet-2021-107751. doi: 10.1136/jmedgenet-2021-107751. Epub ahead of print.

Royer-Bertrand B, Jequier Gygax M, Cisarova K, et al., De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Mol Autism. 2021 Oct 26;12(1):69

Rodan LH, Spillmann RC, Kurata HT, et al., Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Erratum in: Genet Med. 2021 Sep 14

De Menil, V., Hoogenhout, M., Kipkemoi, P., Kamuya, D., Eastman, E., Galvin, A., Mwangasha, K., De Vries, J., Kariuki, S.M., Murugasen, S. and Mwangi, P., 2019. The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa. Neuron, 101(1), pp.15-19.

bottom of page