| 1 | EML1, OVGRH
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| A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects
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| Markus F, Kannengießer A, Näder P, Atigbire P, Scholten A, Vössing C, Bültmann E, Korenke GC, Owczarek-Lipska M, Neidhardt J.
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| J Hum Genet. Dec;66(12):1159-1167. doi: 10.1038/s10038-021-00947-5. Epub 2021 Jul 1. 2021
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| 2 | EML1, OVGRH
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| EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
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| Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH.
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| Am J Med Genet C Semin Med Genet. Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11. 2019
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| 3 | EML1, OVGRH
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| Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human
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| Kielar M, Tuy FP, Bizzotto S, Lebrand C, de Juan Romero C, Poirier K, Oegema R, Mancini GM, Bahi-Buisson N, Olaso R, Le Moing AG, Boutourlinsky K, Boucher D, Carpentier W, Berquin P, Deleuze JF, Belvindrah R, Borrell V, Welker E, Chelly J, Croquelois A, Francis F.
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| Nat Neurosci. Jul;17(7):923-33. doi: 10.1038/nn.3729. Epub 2014 May 25 2014
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