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Andrew K Ressler

Showing results (1-10 of 11) with videos related to

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Molecular Genetics & Genomic Medicine|November 14, 2022
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseasesAndrew K Ressler, David B Goldstein
Journal of Medical Genetics|February 12, 2025
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in <i>SMAD4</i>Evon DeBose-Scarlett, Andrew K Ressler, Cassi Friday, et al.
Iscience|January 3, 2023
Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic miceAndrew K Ressler, Gabriela L A Sampaio, Sarah A Dugger, et al.
Nature Communications|November 3, 2023
Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous MalformationsAndrew K Ressler, Daniel A Snellings, Romuald Girard, et al.
Human Genomics|December 10, 2025
Recurrent somatic copy number alterations in resected cerebral cavernous malformationsAndrew K Ressler, Evon Debose-Scarlett, Amanda Fuenzalida, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2025
SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamicsDulcie Lai, Paulina Sosicka, Damian J Williams, et al.
Brain : a Journal of Neurology|May 26, 2025
SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamicsDulcie Lai, Paulina Sosicka, Damian J Williams, et al.
American Journal of Human Genetics|September 19, 2024
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesisEvon DeBose-Scarlett, Andrew K Ressler, Carol J Gallione, et al.
Plos Genetics|October 2, 2023
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiencySarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, et al.
Cancer Discovery|March 28, 2025
Somatic uniparental disomy of PTEN in endothelial cells causes vascular malformations in patients with PTEN Hamartoma Tumor SyndromeSandra D Castillo, Xabier Perosanz, Andrew K Ressler, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Molecular Genetics & Genomic Medicine|November 14, 2022
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseasesAndrew K Ressler, David B Goldstein
Journal of Medical Genetics|February 12, 2025
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in <i>SMAD4</i>Evon DeBose-Scarlett, Andrew K Ressler, Cassi Friday, et al.
Iscience|January 3, 2023
Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic miceAndrew K Ressler, Gabriela L A Sampaio, Sarah A Dugger, et al.
Nature Communications|November 3, 2023
Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous MalformationsAndrew K Ressler, Daniel A Snellings, Romuald Girard, et al.
Human Genomics|December 10, 2025
Recurrent somatic copy number alterations in resected cerebral cavernous malformationsAndrew K Ressler, Evon Debose-Scarlett, Amanda Fuenzalida, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2025
SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamicsDulcie Lai, Paulina Sosicka, Damian J Williams, et al.
Brain : a Journal of Neurology|May 26, 2025
SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamicsDulcie Lai, Paulina Sosicka, Damian J Williams, et al.
American Journal of Human Genetics|September 19, 2024
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesisEvon DeBose-Scarlett, Andrew K Ressler, Carol J Gallione, et al.
Plos Genetics|October 2, 2023
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiencySarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, et al.
Cancer Discovery|March 28, 2025
Somatic uniparental disomy of PTEN in endothelial cells causes vascular malformations in patients with PTEN Hamartoma Tumor SyndromeSandra D Castillo, Xabier Perosanz, Andrew K Ressler, et al.
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