Alicia Guemez-Gamboa

Rockefeller University, New York, NY, United States 
Neurodevelopment, human genetics, neural circuits
"Alicia Guemez-Gamboa"
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Rakotomamonjy J, Rylaarsdam L, Guemez-Gamboa A. (2020) PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye. Neuron. 107: 3-5
Li H, Saucedo-Cuevas L, Yuan L, et al. (2019) Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors. Neuron
Guemez-Gamboa A, Çağlayan AO, Stanley V, et al. (2018) Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome. Annals of Neurology
Marin-Valencia I, Gerondopoulos A, Zaki MS, et al. (2017) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American Journal of Human Genetics
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
Baek ST, Copeland B, Yun EJ, et al. (2015) An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nature Medicine
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
Guemez-Gamboa A, Xu L, Meng D, et al. (2014) Non-cell-autonomous mechanism of activity-dependent neurotransmitter switching. Neuron. 82: 1004-16
Guemez-Gamboa A, Coufal NG, Gleeson JG. (2014) Primary cilia in the developing and mature brain. Neuron. 82: 511-21
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
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