A perturbed gene network containing PI3K/AKT, RAS/ERK, WNT/β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity

af Gazestani, Vahid H., Pramparo, Tiziano, Nalabolu, Srinivasa, Kellman, Benjamin P., Murray, Sarah, Lopez, Linda, Pierce, Karen, Courchesne, Eric, Lewis, Nathan E.
Udgivet i Nat Neurosci (2019)

Evaluation of the Diagnostic Stability of the Early Autism Spectrum Disorder Phenotype in the General Population Starting at 12 Months

af Pierce, Karen, Gazestani, Vahid H., Bacon, Elizabeth, Barnes, Cynthia Carter, Cha, Debra, Nalabolu, Srinivasa, Lopez, Linda, Moore, Adrienne, Pence-Stophaeros, Sunny, Courchesne, Eric
Udgivet i JAMA Pediatr (2019)

Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing

af Kellman, Benjamin P., Baghdassarian, Hratch M., Pramparo, Tiziano, Shamie, Isaac, Gazestani, Vahid, Begzati, Arjana, Li, Shangzhong, Nalabolu, Srinivasa, Murray, Sarah, Lopez, Linda, Pierce, Karen, Courchesne, Eric, Lewis, Nathan E.
Udgivet i BMC Genomics (2021)

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

af Geisheker, Madeleine R., Heymann, Gabriel, Wang, Tianyun, Coe, Bradley P., Turner, Tychele N., Stessman, Holly A.F., Hoekzema, Kendra, Kvarnung, Malin, Shaw, Marie, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Thompson, Elizabeth M., Haan, Eric, Guo, Hui, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Vandeweyer, Geert, Alberti, Antonino, Avola, Emanuela, Vinci, Mirella, Giusto, Stefania, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Michaelson, Jacob J., Sedlacek, Zdenek, Santen, Gijs W.E., Peeters, Hilde, Hakonarson, Hakon, Courchesne, Eric, Romano, Corrado, Kooy, R. Frank, Bernier, Raphael A., Nordenskjöld, Magnus, Gecz, Jozef, Xia, Kun, Zweifel, Larry S., Eichler, Evan E.
Udgivet i Nat Neurosci (2017)

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

af Stessman, Holly A. F., Xiong, Bo, Coe, Bradley P., Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N., Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R. Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David, Scheffer, Ingrid E., Delatycki, Martin B., Lockhart, Paul J., Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A., Eichler, Evan E.
Udgivet i Nat Genet (2017)