Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype

por O’Connor, Bridget C., Macke, Erica L., Keegan, Catherine E.
Publicado em 2011

Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

por Boczek, Nicole J., Macke, Erica L., Kemppainen, Jennifer, Klee, Eric W., Renaud, Deborah L., Gavrilova, Ralitza H.
Publicado no Child Neurol Open (2020)

Genetic basis of age-dependent synaptic abnormalities in the retina

por Higuchi, Hitoshi, Macke, Erica L., Lee, Wei-Hua, Miller, Sam A., Xu, James C., Ikeda, Sakae, Ikeda, Akihiro
Publicado no Mamm Genome (2014)

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

por Macke, Erica L., Morales-Rosado, Joel A., Gupta, Aditi, Schmitz, Christopher T., Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric W.
Publicado no Cold Spring Harb Mol Case Stud (2020)

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

por Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Publicado no Mol Genet Genomic Med (2020)

Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy

por Mezu-Ndubuisi, Olachi J., Macke, Erica L., Kalavacherla, Raja, Nwaba, Amy Amanda, Suscha, Andrew, Zaitoun, Ismail S., Ikeda, Akihiro, Sheibani, Nader
Publicado no Mol Vis (2020)

Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice

por Macke, Erica L., Henningsen, Erika, Jessen, Erik, Zumwalde, Nicholas A., Landowski, Michael, Western, Daniel E., Lee, Wei-Hua, Liu, Che, Gruenke, Nathan P., Doebley, Anna-Lisa, Miller, Samuel, Pattnaik, Bikash, Ikeda, Sakae, Gumperz, Jenny E., Ikeda, Akihiro
Publicado no Genetics (2020)

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

por Srivastava, Siddharth, Macke, Erica L., Swanson, Lindsay C., Coulter, David, Klee, Eric W., Mullegama, Sureni V., Xie, Yili, Lanpher, Brendan C., Bedoukian, Emma C., Skraban, Cara M., Villard, Laurent, Milh, Mathieu, Leppert, Mary L. O., Cohen, Julie S.
Publicado no Brain Sci (2021)

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

por Lee, Wei-Hua, Higuchi, Hitoshi, Ikeda, Sakae, Macke, Erica L, Takimoto, Tetsuya, Pattnaik, Bikash R, Liu, Che, Chu, Li-Fang, Siepka, Sandra M, Krentz, Kathleen J, Rubinstein, C Dustin, Kalejta, Robert F, Thomson, James A, Mullins, Robert F, Takahashi, Joseph S, Pinto, Lawrence H, Ikeda, Akihiro
Publicado no eLife (2016)

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

por Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco
Publicado no Am J Hum Genet (2021)