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Abbe Lai

Showing results (1-10 of 15) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Response to Horta et alAbbe Lai, Aubrie Soucy, Edward Yang, et al.
Clinical Genetics|April 2, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delayAlisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al.
Annals of Neurology|September 22, 2020
Polymicrogyria is Associated With Pathogenic Variants in PTENDiane D Shao, Christelle M Achkar, Abbe Lai, et al.
Annals of Neurology|February 11, 2026
Diverse Genetic Etiologies of Unilateral PolymicrogyriaAbbe Lai, Jennifer E Neil, Shyam K Akula, et al.
American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Neuron|February 26, 2020
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5Andrew Kodani, Connor Kenny, Abbe Lai, et al.
American Journal of Human Genetics|January 19, 2022
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorderNuno Maia, Sven Potelle, Hamide Yildirim, et al.
Nature|May 14, 2025
Spatial transcriptomics reveals human cortical layer and area specificationXuyu Qian, Kyle Coleman, Shunzhou Jiang, et al.
Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Response to Horta et alAbbe Lai, Aubrie Soucy, Edward Yang, et al.
Clinical Genetics|April 2, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delayAlisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al.
Annals of Neurology|September 22, 2020
Polymicrogyria is Associated With Pathogenic Variants in PTENDiane D Shao, Christelle M Achkar, Abbe Lai, et al.
Annals of Neurology|February 11, 2026
Diverse Genetic Etiologies of Unilateral PolymicrogyriaAbbe Lai, Jennifer E Neil, Shyam K Akula, et al.
American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Neuron|February 26, 2020
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5Andrew Kodani, Connor Kenny, Abbe Lai, et al.
American Journal of Human Genetics|January 19, 2022
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorderNuno Maia, Sven Potelle, Hamide Yildirim, et al.
Nature|May 14, 2025
Spatial transcriptomics reveals human cortical layer and area specificationXuyu Qian, Kyle Coleman, Shunzhou Jiang, et al.
Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Pageof 2