The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

por Baldridge, Dustin, Heeley, Jennifer, Vineyard, Marisa, Manwaring, Linda, Toler, Tomi L, Fassi, Emily, Fiala, Elise, Brown, Sarah, Goss, Charles W., Willing, Marcia, Grange, Dorothy K, Kozel, Beth A, Shinawi, Marwan
Publicado 2017

Phenotypic characteristics of early Wolfram syndrome

por Marshall, Bess A, Permutt, M Alan, Paciorkowski, Alexander R, Hoekel, James, Karzon, Roanne, Wasson, Jon, Viehover, Amy, White, Neil H, Shimony, Joshua S, Manwaring, Linda, Austin, Paul, Hullar, Timothy E, Hershey, Tamara
Publicado 2013

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations

por Starosta, Rodrigo Tzovenos, Hou, Ying-Chen Claire, Leestma, Katelyn, Singh, Prapti, Viehl, Luke, Manwaring, Linda, Granadillo, Jorge Luis, Schroeder, Molly C., Colombo, Jamie N., Whitehead, Halana, Dickson, Patricia Irene, Hulbert, Monica L., Nguyen, Hoanh Thi
Publicado 2022

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

por Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon H., Bhoj, Elizabeth J.
Publicado 2020