Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample

ανά Moreno-De-Luca, Daniel, Kavanaugh, Brian C., Best, Carrie R., Sheinkopf, Stephen J., Phornphutkul, Chanika, Morrow, Eric M.
Τόπος έκδοσης JAMA Psychiatry (2020)

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

ανά Kavanaugh, Brian C., Warren, Emily B., Baytas, Ozan, Schmidt, Michael, Merck, Derek, Buch, Karen, Liu, Judy S., Phornphutkul, Chanika, Caruso, Paul, Morrow, Eric M.
Τόπος έκδοσης Am J Med Genet A (2019)

Complex Neurological Phenotype in Female Carriers of NHE6 Mutations

ανά Pescosolido, Matthew F., Kavanaugh, Brian C., Pochet, Nathalie, Schmidt, Michael, Jerskey, Beth A., Rogg, Jeffrey M., De Jager, Philip L., Young-Pearse, Tracy L., Liu, Judy S., Morrow, Eric M.
Τόπος έκδοσης Mol Neuropsychiatry (2019)

GPT2 mutations in autosomal recessive developmental disability: Extending the clinical phenotype and population prevalence estimates

ανά Ouyang, Qing, Kavanaugh, Brian C., Joesch-Cohen, Lena, Dubois, Bethany, Wu, Qing, Schmidt, Michael, Baytas, Ozan, Pastore, Stephen F., Harripaul, Ricardo, Mishra, Sasmita, Hussain, Abrar, Kim, Katherine H., Holler-Managan, Yolanda F., Ayub, Muhammad, Mir, Asif, Vincent, John B., Liu, Judy S., Morrow, Eric M.
Τόπος έκδοσης Hum Genet (2019)

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies

ανά Lizarraga, Sofia B., Ma, Li, Maguire, Abbie M., van Dyck, Laura I., Wu, Qing, Ouyang, Qing, Kavanaugh, Brian C., Nagda, Dipal, Livi, Liane L., Pescosolido, Matthew F., Schmidt, Michael, Alabi, Shanique, Cowen, Mara H., Brito-Vargas, Paul, Hoffman-Kim, Diane, Uzun, Ece D. Gamsiz, Schlessinger, Avner, Jones, Richard N., Morrow, Eric M.
Τόπος έκδοσης Sci Transl Med (2021)

Autism Heterogeneity in a Densely-Sampled US Population: Results From the First 1,000 Participants in the RI-CART Study

ανά McCormick, Carolyn E.B., Kavanaugh, Brian C., Sipsock, Danielle, Righi, Giulia, Oberman, Lindsay M., Moreno-De-Luca, Daniel, Gamsiz Uzun, Ece D., Best, Carrie R., Jerskey, Beth A., Quinn, Joanne G., Jewel, Susan B., Wu, Pei-Chi, McLean, Rebecca L., Levine, Todd P., Tokadjian, Hasmik, Perkins, Kayla A., Clarke, Elaine B., Dunn, Brittany, Gerber, Alan H., Tenenbaum, Elena J., Anders, Thomas F., Sheinkopf, Stephen J., Morrow, Eric M.
Τόπος έκδοσης Autism Res (2020)