Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations
Ressler, Andrew K., Snellings, Daniel A., Girard, Romuald, Gallione, Carol J., Lightle, Rhonda, Allen, Andrew S., Awad, Issam A., Marchuk, Douglas A.
Published in Nature communications (02.11.2023)
Published in Nature communications (02.11.2023)
Get full text
Journal Article
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency
Dugger, Sarah A, Dhindsa, Ryan S, Sampaio, Gabriela De Almeida, Ressler, Andrew K, Rafikian, Elizabeth E, Petri, Sabrina, Letts, Verity A, Teoh, JiaJie, Ye, Junqiang, Colombo, Sophie, Peng, Yueqing, Yang, Mu, Boland, Michael J, Frankel, Wayne N, Goldstein, David B
Published in PLoS genetics (02.10.2023)
Published in PLoS genetics (02.10.2023)
Get full text
Journal Article
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases
Ressler, Andrew K., Goldstein, David B.
Published in Molecular genetics & genomic medicine (01.01.2023)
Published in Molecular genetics & genomic medicine (01.01.2023)
Get full text
Journal Article
Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice
Ressler, Andrew K., Sampaio, Gabriela L.A., Dugger, Sarah A., Sapir, Tamar, Krizay, Daniel, Boland, Michael J., Reiner, Orly, Goldstein, David B.
Published in iScience (20.01.2023)
Published in iScience (20.01.2023)
Get full text
Journal Article
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis
DeBose-Scarlett, Evon, Ressler, Andrew K., Gallione, Carol J., Sapisochin Cantis, Gonzalo, Friday, Cassi, Weinsheimer, Shantel, Schimmel, Katharina, Spiekerkoetter, Edda, Kim, Helen, Gossage, James R., Faughnan, Marie E., Marchuk, Douglas A.
Published in American journal of human genetics (03.10.2024)
Published in American journal of human genetics (03.10.2024)
Get full text
Journal Article