Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia

por Pozzi, Sara, Tan, Wen‐Hann, Martinez‐Barbera, JuanPedro
Publicado 2017

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

por Khan, Nasreen, Cabo, Raquel, Tan, Wen‐Hann, Tayag, Regina, Bird, Lynne M.
Publicado 2019

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

por Khan, Nasreen, Cabo, Raquel, Tan, Wen-Hann, Tayag, Regina, Bird, Lynne M.
Publicado 2019

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

por Gold, Nina B., Campbell, Ian M., Sheppard, Sarah E., Tan, Wen-Hann
Publicado 2021

Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity

por Hipp, Joerg F., Frohlich, Joel, Keute, Marius, Tan, Wen-Hann, Bird, Lynne M.
Publicado 2021

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

por Keute, Marius, Miller, Meghan T., Krishnan, Michelle L., Sadhwani, Anjali, Chamberlain, Stormy, Thibert, Ronald L., Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.
Publicado 2020

The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome

por Bird, Lynne M., Ochoa-Lubinoff, Cesar, Tan, Wen-Hann, Heimer, Gali, Melmed, Raun D., Rakhit, Amit, Visootsak, Jeannie, During, Matthew J., Holcroft, Christina, Burdine, Rebecca D., Kolevzon, Alexander, Thibert, Ronald L.
Publicado 2021

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

por Awamleh, Zain, Chater-Diehl, Eric, Choufani, Sanaa, Wei, Elizabeth, Kianmahd, Rebecca R., Yu, Anna, Chad, Lauren, Costain, Gregory, Tan, Wen-Hann, Scherer, Stephen W., Arboleda, Valerie A., Russell, Bianca E., Weksberg, Rosanna
Publicado 2022

Infant Mortality: the Contribution of Genetic Disorders

por Wojcik, Monica H., Schwartz, Talia S., Thiele, Katri E., Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E., VanNoy, Grace E., Genetti, Casie A., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Tan, Wen-Hann, Agrawal, Pankaj B.
Publicado 2019

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

por Manzini, M Chiara, Rajab, Anna, Maynard, Thomas M, Mochida, Ganeshwaran H, Tan, Wen-Hann, Nasir, Ramzi, Hill, R Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N, Barry, Brenda J, Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A
Publicado 2010

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

por Tjeertes, Jorrit, Bacino, Carlos A., Bichell, Terry Jo, Bird, Lynne M., Bustamante, Mariana, Crean, Rebecca, Jeste, Shafali, Komorowski, Robert W., Krishnan, Michelle L., Miller, Meghan T., Nobbs, David, Ochoa-Lubinoff, Cesar, Parkerson, Kimberly A., Rotenberg, Alexander, Sadhwani, Anjali, Shen, Mark D., Squassante, Lisa, Tan, Wen-Hann, Vincenzi, Brenda, Wheeler, Anne C., Hipp, Joerg F., Berry-Kravis, Elizabeth
Publicado 2023

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

por Mochida, Ganeshwaran H., Ganesh, Vijay S., de Michelena, Maria I., Dias, Hugo, Atabay, Kutay D., Kathrein, Katie L., Huang, Emily, Hill, R. Sean, Felie, Jillian M., Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D., Malik, Athar N., Barry, Brenda J., Partlow, Jennifer N., Tan, Wen-Hann, Glader, Laurie J., Barkovich, A. James, Dobyns, William B., Zon, Leonard I., Walsh, Christopher A.
Publicado 2012

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

por Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado 2020

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

por Ching, Michael SL, Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai-Lin
Publicado 2010