Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenoty...

le von Oettingen, Julia E., Tan, Wen-Hann, Dauber, Andrew
Foilsithe in Am J Med Genet A (2014)

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

le Pozzi, Sara, Tan, Wen‐Hann, Martinez‐Barbera, JuanPedro
Foilsithe in Clin Case Rep (2017)

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

le Khan, Nasreen, Cabo, Raquel, Tan, Wen‐Hann, Tayag, Regina, Bird, Lynne M.
Foilsithe in Mol Genet Genomic Med (2019)

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

le Khan, Nasreen, Cabo, Raquel, Tan, Wen-Hann, Tayag, Regina, Bird, Lynne M.
Foilsithe in Orphanet J Rare Dis (2019)

Two Angelman Families with Unusually Advanced Neurodevelopment Carry a Start Codon Variant in the Most Highly Expressed UBE3A Isoform

le Sadhwani, Anjali, Sanjana, Neville E., Willen, Jennifer M., Calculator, Stephen N., Black, Emily D., Bean, Lora J.H., Li, Hong, Tan, Wen-Hann
Foilsithe in Am J Med Genet A (2018)

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

le Rajabi, Farrah, Rodan, Lance H., Jonas, Maureen M., Soul, Janet S., Ullrich, Nicole J., Wessel, Ann, Waisbren, Susan E., Tan, Wen-Hann, Berry, Gerard T.
Foilsithe in JIMD Rep (2017)

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

le Tan, Wen‐Hann, Baris, Hagit N, Burrows, Patricia E, Robson, Caroline D, Alomari, Ahmad I, Mulliken, John B, Fishman, Steven J, Irons, Mira B
Foilsithe 2007

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome

le Wojcik, Monica H., Thiele, Katri, Grant, Carly F., Chao, Katherine, Goodrich, Julia, O’Donnell-Luria, Anne, Lacro, Ronald V., Tan, Wen-Hann, Agrawal, Pankaj B.
Foilsithe in J Pediatr (2019)

Neurodevelopmental Profile of Siblings with Angelman Syndrome due to pathogenic UBE3A variants

le Sadhwani, Anjali, Willen, Jennifer M., Miller, Hillary, Barbieri-Welge, Rene, Horowitz, Lucia T., Noll, Lisa M., Peters, Sarika, Hundley, Rachel, Bird, Lynne M., Tan, Wen-Hann
Foilsithe in J Intellect Disabil Res (2019)

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III

le Sadhwani, Anjali, Wheeler, Anne, Gwaltney, Angela, Peters, Sarika U., Barbieri-Welge, Rene L., Horowitz, Lucia T., Noll, Lisa M., Hundley, Rachel J., Bird, Lynne M., Tan, Wen-Hann
Foilsithe in J Autism Dev Disord (2023)

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

le Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Pankaj B.
Foilsithe in Neurogenetics (2015)

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

le 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.
Foilsithe in Neurology (2021)

Electrophysiological phenotype in Angelman syndrome differs between genotypes

le Frohlich, Joel, Miller, Meghan, Bird, Lynne M., Garces, Pilar, Purtell, Hannah, Hoener, Marius C., Philpot, Benjamin D., Sidorov, Michael S., Tan, Wen-Hann, Hernandez, Maria-Clemencia, Rotenberg, Alexander, Jeste, Shafali S., Krishnan, Michelle, Khwaja, Omar, Hipp, Joerg F.
Foilsithe in Biol Psychiatry (2019)

Infant Mortality: the Contribution of Genetic Disorders

le 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.
Foilsithe in J Perinatol (2019)

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

le 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
Foilsithe 2010

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations

le Gentile, Jennifer K., Tan, Wen-Hann, Horowitz, Lucia T., Bacino, Carlos A., Skinner, Steven A., Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Lee, Hye-Seung, Sahoo, Trilochan, Waisbren, Susan E., Bird, Lynne M., Peters, Sarika U.
Foilsithe 2010

Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

le Russell, Bianca, Johnston, Jennifer J, Biesecker, Leslie G., Kramer, Nancy, Pickart, Angela, Rhead, William, Tan, Wen-Hann, Brownstein, Catherine A, Clarkson, L Kate, Dobson, Amy, Rosenberg, Avi Z, Schrier Vergano, Samantha A., Helm, Benjamin M., Harrison, Rachel E, Graham, John M
Foilsithe in Am J Med Genet A (2015)

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

le Mochida, Ganeshwaran H., Ganesh, Vijay S., Felie, Jillian M., Gleason, Danielle, Hill, R. Sean, Clapham, Katie Rose, Rakiec, Daniel, Tan, Wen-Hann, Akawi, Nadia, Al-Saffar, Muna, Partlow, Jennifer N., Tinschert, Sigrid, Barkovich, A. James, Ali, Bassam, Al-Gazali, Lihadh, Walsh, Christopher A.
Foilsithe 2010

A Therapeutic Trial of Pro-methylation Dietary Supplements in Angelman Syndrome

le Bird, Lynne M., Tan, Wen-Hann, Bacino, Carlos A., Peters, Sarika U., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Mohan, K. Naga, Nespeca, Mark P., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Beaudet, Arthur L.
Foilsithe 2011

Expansion of phenotype and genotypic data in CRB2-related syndrome

le Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M
Foilsithe in Eur J Hum Genet (2016)