Naiara Akizu
Affiliations: | Children’s Hospital of Philadelphia / University of Pennsylvania, Philadelphia, PA, United States |
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| Li D, Wang Q, Bayat A, et al. (2023) Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of Clinical Investigation |
| Gracia-Diaz C, Zhou Y, Yang Q, et al. (2023) Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications. 14: 4109 |
| Sheppard SE, Bryant L, Wickramasekara RN, et al. (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances. 9: eade1463 |
| Guemez-Gamboa A, Çağlayan AO, Stanley V, et al. (2018) Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome. Annals of Neurology |
| Lardelli RM, Schaffer AE, Eggens VR, et al. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics |
| Guemez-Gamboa A, Nguyen LN, Yang H, et al. (2015) Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47: 809-13 |
| Akizu N, Cantagrel V, Zaki MS, et al. (2015) Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34 |
| Petazzi P, Akizu N, García A, et al. (2014) An increase in MECP2 dosage impairs neural tube formation. Neurobiology of Disease. 67: 49-56 |
| Novarino G, Fenstermaker AG, Zaki MS, et al. (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11 |
| Akizu N, Silhavy JL, Rosti RO, et al. (2014) Mutations in CSPP1 lead to classical Joubert syndrome. American Journal of Human Genetics. 94: 80-6 |