Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature

by Julie Simon, Katie Stoll, Roger Fick, Jared Mott, Amy Lawson‐Yuen
Published 2019-12-01

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

by Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters
Published 2017-01-01

Cytokine Profiles of Severe Influenza Virus-Related Complications in Children

by Andrew Fiore-Gartland, Angela Panoskaltsis-Mortari, Anna A. Agan, Anushay J. Mistry, Paul G. Thomas, Michael A. Matthay, Michael A. Matthay, PALISI PICFlu Investigators, Tomer Hertz, Tomer Hertz, Tomer Hertz, Adrienne G. Randolph, Adrienne G. Randolph, Adrienne G. Randolph, Ronald C. Sanders, Glenda Hefley, David Tellez, Courtney Bliss, Aimee Labell, Danielle Liss, Ashley L. Ortiz, Katri Typpo, Jen Deschenes, Barry Markovitz, Jeff Terry, Rica Sharon P. Morzov, Ana Lia Graciano, Melita Baldwin, Nick Anas, Adam Schwarz, Chisom Onwunyi, Stephanie Osborne, Tiffany Patterson, Ofelia Vargas-Shiraishi, Anil Sapru, Maureen Convery, Victoria Lo, Heidi Flori, Becky Brumfield, Julie Simon, Angela Czaja, Peter Mourani, Valeri Batara Aymami, Susanna Burr, Megan Brocato, Stephanie Huston, Emily Jewett, Danielle Loyola, Christopher Carroll, Kathleen Sala, Sherell Thornton-Thompson, John S. Giuliano, Joana Tala, Gwenn McLaughlin, Matthew Paden, Chee-Chee Manghram, Stephanie Meisner, Cheryl L. Stone, Juliane Bubeck Wardenburg, Andrea DeDent, Vicki Montgomery, Janice Sullivan, Tracy Evans, Kara Richardson, Melissa Thomas, Adrienne Randolph, Anna A. Agan, Anushay J. Mistry, Ryan M. Sullivan, Stephanie Cobb, Melania Bembea, Elizabeth D. White, Stephen Kurachek, Angela A. Doucette, Erin Olson, Mary Hartman, Rachel Jacobs, Edward Truemper, Machelle Dawson, Daniel L. Levin, J. Dean Jarvis, Chhavi Katyal, Kate Ackerman, L. Eugene Daugherty, Laurel Baglia, Mark W. Hall, Kristin Greathouse, Lisa Steele, Neal Thomas, Jill Raymond, Debra Spear, Julie Fitzgerald, Mark Helfaer, Scott Weiss, Jenny L. Bush, Mary Ann Diliberto, Brooke B. Park, Martha Sisko, Frederick E. Barr, Renee Higgerson, LeeAnn Christie, Cindy Darnell, Shanda Johnson, Laura L. Loftis, Nancy Jaimon, Ursula Kyle, Rainer Gedeit, Briana E. Horn, Kate Luther, Kathy Murkowski, Douglas F. Willson, Robin L. Kelly, Philippe A. Jouvet, Anne-Marie Fontaine, Marc-André Dugas
Published 2017-11-01