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Aubrie Soucy

Showing results (1-10 of 10) 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2025
Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care UnitsAlissa M D'Gama, Jessica Douglas, Sonia Hills, et al.
Nature Genetics|June 19, 2019
Recessive gene disruptions in autism spectrum disorderRyan N Doan, Elaine T Lim, Silvia De Rubeis, 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.
American Journal of Medical Genetics. Part A|August 29, 2024
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorderIsabel Haviland, Ralph D Hector, Lindsay C Swanson, et al.
Nature|July 12, 2023
A framework for individualized splice-switching oligonucleotide therapyJinkuk Kim, Sijae Woo, Claudio M de Gusmao, et al.
Nature Medicine|April 14, 2026
Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathyTojo Nakayama, Christelle M El Achkar, Lisseth E Burbano, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
The New England Journal of Medicine|October 10, 2019
Patient-Customized Oligonucleotide Therapy for a Rare Genetic DiseaseJinkuk Kim, Chunguang Hu, Christelle Moufawad El Achkar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Pageof 1

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

Sort By:
Pageof 1
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2025
Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care UnitsAlissa M D'Gama, Jessica Douglas, Sonia Hills, et al.
Nature Genetics|June 19, 2019
Recessive gene disruptions in autism spectrum disorderRyan N Doan, Elaine T Lim, Silvia De Rubeis, 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.
American Journal of Medical Genetics. Part A|August 29, 2024
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorderIsabel Haviland, Ralph D Hector, Lindsay C Swanson, et al.
Nature|July 12, 2023
A framework for individualized splice-switching oligonucleotide therapyJinkuk Kim, Sijae Woo, Claudio M de Gusmao, et al.
Nature Medicine|April 14, 2026
Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathyTojo Nakayama, Christelle M El Achkar, Lisseth E Burbano, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
The New England Journal of Medicine|October 10, 2019
Patient-Customized Oligonucleotide Therapy for a Rare Genetic DiseaseJinkuk Kim, Chunguang Hu, Christelle Moufawad El Achkar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Pageof 1