Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms

by M. Pilar Trelles, Tess Levy, Bonnie Lerman, Paige Siper, Reymundo Lozano, Danielle Halpern, Hannah Walker, Jessica Zweifach, Yitzchak Frank, Jennifer Foss-Feig, Alexander Kolevzon, Joseph Buxbaum
Published 2021-09-01

P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

by Ali AlMail, Ahmed Jamjoom, Amy Pan, Anna Feng, Vann Chau, Alissa D'Gama, Katherine Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Published 2024-01-01

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

by Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman, Anna S. Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, Simon K. Warfield, Benoit Scherrer, Rajna Filip-Dhima, Kira Dies, Paige Siper, Ellen Hanson, Jennifer M. Phillips
Published 2023-01-01

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

by Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Published 2024-04-01