Alicia Guemez‐Gamboa

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang et al. · Nature Genetics · 2015 · 209 citations · Full text

Molecular Neuroscience, Omega-3 Fatty Acid, Physiology +7

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

Seung Tae Baek, Brett Copeland, Eun-Jin Yun et al. · Nature Medicine · 2015 · 122 citations · Full text

Molecular Neuroscience, Developmental Biology, Brain Structure +12

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens et al. · Nature Genetics · 2017 · 99 citations · Full text

Biology, Biallelic Mutations, Mendelian Disorder +5

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Naiara Akizu, Jennifer L. Silhavy, Rasim Özgür Rosti et al. · The American Journal of Human Genetics · 2013 · 86 citations · Full text

Developmental Biology, Mendelian Disorder, Cspp1 Lead +5

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

Hongda Li, Laura Saucedo-Cuevas, Ling Yuan et al. · Neuron · 2019 · 77 citations · Full text

Viral Replication, Developmental Biology, Molecular Virology +8