Contributors

Autor: Steven H. Abman, Noorjahan Ali, Karel Allegaert, Jamie E. Anderson, Deidra A. Ansah, Bhawna Arya, David Askenazi, Susan W. Aucott, Stephen A. Back, Gerri R. Baer, H. Scott Baldwin, Jerasimos Ballas, Maneesh Batra, Cheryl Bayart, Gary A. Bellus, John T. Benjamin, Gerard T. Berry, Zeenia C. Billimoria, Gil Binenbaum, Matthew S. Blessing, Markus D. Boos, Brad Bosse, Maryse L. Bouchard, Heather A. Brandling-Bennett, Colleen Brown, Erin G. Brown, Katherine H. Campbell, Katie Carlberg, Brian S. Carter, Shilpi Chabra, Irene J. Chang, Edith Y. Cheng, Kai-wen Chiang, Robert D. Christensen, Terrence Chun, Ronald I. Clyman, Donna, Maria E. Cortezzo, C.M. Cotten, Sherry E. Courtney, Jonathan M. Davis, Alejandra G. de Alba Campomanes, Benjamin Dean, Ellen Dees, Sara B. De, Mauro, Scott C. Denne, Emöke Deschmann, Carolina Cecilia Di Blasi, Sara A. Di, Vall, Dan Doherty, David J. Durand, Nicolle Fernández Dyess, Eric C. Eichenwald, Kelsey B. Eitel, Rachel M. Engen, Kelly N. Evans, Diana L. Farmer, Emily Fay, Patricia Y. Fechner, Rachel Fleishman, Bobbi Fleiss, Joseph Flynn, Katherine T. Flynn-O’Brien, G. Kyle Fulton, Renata C. Gallagher, Estelle B. Gauda, W. Christopher Golden, Michelle M. Gontasz, Natasha González Estévez, Sidney M. Gospe, Pierre Gressens, Deepti Gupta, Sangeeta Hingorani, Ashley P. Hinson, Susan R. Hintz, W. Alan Hodson, Kara K. Hoppe, Alyssa Huang, Benjamin Huang, Kathy Huen, Katie A. Huff, Cristian Ionita, J. Craig Jackson, Jordan E. Jackson, Tom Jaksic, Patrick J. Javid, Julia Johnson, Cassandra D. Josephson, Emily S. Jungheim, Sandra E. Juul, Mohammad Nasser Kabbany, Heidi Karpen, Gregory Keefe, Jennifer C. Keene, Amaris M. Keiser, Roberta L. Keller, Thomas F. Kelly, Kate Khorsand, Grace Kim, John P. Kinsella, Allison S. Komorowski, Ildiko H. Koves, Joanne M. Lagatta, Satyan Lakshminrusimha, Christina Lam, John D. Lantos, Janessa B. Law, Su Yeon Lee, Ofer Levy, David B. Lewis, Philana Ling Lin, Scott A. Lorch, Tiffany L. Lucas, Akhil Maheshwari, Emin Maltepe, Erica Mandell, Winston M. Manimtim, Richard J. Martin, Dennis E. Mayock, Irene Mc, Aleer, Patrick McQuillen, Ann J. Melvin, Paul A. Merguerian, Lina Merjaneh, J. Lawrence Merritt, Valerie Mezger, Marian G. Michaels, Ulrike Mietzsch, Steven P. Miller, Thomas R. Moore, Karen F. Murray, Debika Nandi-Munshi, Niranjana Natarajan, Kathryn D. Ness, Josef Neu, Shahab Noori, Thomas Michael O’Shea, Julius T. Oatts, Nigel Paneth, Thomas A. Parker, Ravi Mangal Patel, Simran Patel, Anna A. Penn, Christian M. Pettker, Shabnam Peyvandi, Catherine Pihoker, Erin Plosa, Brenda Poindexter, Michael A. Posencheg, Mihai Puia-Dumitrescu, Vilmaris Quiñones Cardona, Samuel E. Rice-Townsend, Art Riddle, Elizabeth Robbins, Mark D. Rollins, Mark A. Rosen, Courtney K. Rowe, Inderneel Sahai, Sulagna C. Saitta, Parisa Salehi, Pablo J. Sanchez, Taylor Sawyer, Matthew A. Saxonhouse, Katherine M. Schroeder, David T. Selewski, T. Niroshi Senaratne, Istvan Seri, Emily E. Sharpe, Sarah E. Sheppard, Margarett Shnorhavorian, Robert Sidbury, La, Vone Simmons, Rebecca A. Simmons, Rachana Singh, Martha C. Sola-Visner, Lakshmi Srinivasan, Heidi J. Steflik, Robin H. Steinhorn, Caleb Stokes, Helen Stolp, Jennifer Sucre, Angela Sun, Dalal K. Taha, Jessica Tenney, Janet A. Thomas, George E. Tiller, Benjamin A. Torres, William E. Truog, Kirtikumar Upadhyay, Gregory C. Valentine, John N. van den Anker, Betty Vohr, Linda D. Wallen, Peter (Zhan Tao) Wang, Bradley A. Warady, Robert M. Ward, Jon F. Watchko, Elias Wehbi, Joern-Hendrik Weitkamp, David Werny, Klane K. White, K. Taylor Wild, Susan Wiley, Laurel Willig, George A. Woodward, Clyde J. Wright, Karyn Yonekawa, Elizabeth Yu, Elaine H. Zackai

Publikováno v: Avery's Diseases of the Newborn ISBN: 9780323828239

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae2e380d47048c29830835b82b680e24
https://doi.org/10.1016/b978-0-323-82823-9.00101-x

Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by ade novomutation in a case of epilepsy

Autor: Maki Kaneko, Lucie Delemotte, Antonios Pantazis, Sulagna C. Saitta, Marina Angelini, Federica Steccanella, Sarah H. Lindstrom, Riccardo Olcese, Annie M. Westerlund, Michelle Nilsson

Publikováno v: The Journal of Physiology. 598:5245-5269

KEY POINTS KV 1.2 channels, encoded by the KCNA2 gene, regulate neuronal excitability by conducting K+ upon depolarization. A new KCNA2 missense variant was discovered in a patient with epilepsy, causing amino acid substitution F302L at helix S4, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::854bfaf78db77703da057546c194b6f5
https://doi.org/10.1113/jp280438

Tracking the motion of the K

Autor: Antonios, Pantazis, Maki, Kaneko, Marina, Angelini, Federica, Steccanella, Annie M, Westerlund, Sarah H, Lindström, Michelle, Nilsson, Lucie, Delemotte, Sulagna C, Saitta, Riccardo, Olcese

Publikováno v: J Physiol

An exome-based diagnostic panel in an infant with epilepsy revealed a previously unreported de novo missense variant in KCNA2, which encodes voltage-gated K(+) channel K(V)1.2. This variant causes substitution F302L, in helix S4 of the K(V)1.2 voltag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b833116bb6cbc340383374702a8866f6
https://pubmed.ncbi.nlm.nih.gov/32833227

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

Autor: Elaine H. Zackai, Jennifer M. Kalish, Angela Myers, Sulagna C. Saitta, Michael R. Epstein, Richard J. Czosek, Angela E. Lin, Kathryn C. Chatfield, Tara L. Wenger, Rosemarie Smith, Stephanie M. Ware, Matthew J. Gillespie, Karen W. Gripp, Mark D. Levin, Jaya Ganesh, Paula Goldenberg

Publikováno v: American Journal of Medical Genetics Part A. 176:1711-1722

Multifocal atrial tachycardia (MAT) has a well-known association with Costello syndrome, but is rarely described with related RAS/MAPK pathway disorders (RASopathies). We report 11 patients with RASopathies (Costello, Noonan, and Noonan syndrome with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f536ac77f4266b24ea4ec7368dd35dd5
https://doi.org/10.1002/ajmg.a.38854

Inherited germline ATRX mutation in two brothers with ATR‐X syndrome and osteosarcoma

Autor: David M. Parham, Leo Mascarenhas, Dennis T. Maglinte, David Ruble, Catherine Quindipan, Jaclyn A. Biegel, Moiz Bootwalla, Lishuang Shen, Jianling Ji, Sulagna C. Saitta, Xiaowu Gai

Publikováno v: Am J Med Genet A

We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d2615c3abdd89d317ffa662a05630f
https://doi.org/10.1002/ajmg.a.38184