Children’s rare disease cohorts: an integrative research and clinical genomics initiative

por Rockowitz, Shira, LeCompte, Nicholas, Carmack, Mary, Quitadamo, Andrew, Wang, Lily, Park, Meredith, Knight, Devon, Sexton, Emma, Smith, Lacey, Sheidley, Beth, Field, Michael, Holm, Ingrid A., Brownstein, Catherine A., Agrawal, Pankaj B., Kornetsky, Susan, Poduri, Annapurna, Snapper, Scott B., Beggs, Alan H., Yu, Timothy W., Williams, David A., Sliz, Piotr
Publicado 2020

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

por Koh, Hyun Yong, Smith, Lacey, Wiltrout, Kimberly N., Podury, Archana, Chourasia, Nitish, D’Gama, Alissa M., Park, Meredith, Knight, Devon, Sexton, Emma L., Koh, Julia J., Oby, Brandon, Pinsky, Rebecca, Shao, Diane D., French, Courtney E., Shao, Wanqing, Rockowitz, Shira, Sliz, Piotr, Zhang, Bo, Mahida, Sonal, Moufawad El Achkar, Christelle, Yuskaitis, Christopher J., Olson, Heather E., Sheidley, Beth Rosen, Poduri, Annapurna H.
Publicado 2023

Assessing the landscape of STXBP1-related disorders in 534 individuals

por Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O’Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo
Publicado 2021