Omenn syndrome in a 10-month-old male with athymia and VACTERL association

por Pangli, Bimaljit K., Braddock, Stephen R., Knutsen, Alan P.
Publicado 2023

Cohen Syndrome: Review of the Literature

por Rodrigues, Jonathan M, Fernandes, Hermina D, Caruthers, Carrie, Braddock, Stephen R, Knutsen, Alan P
Publicado 2018

Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant

por Gauntner, Timothy D., Karumuri, Manasa, Guzman, Miguel A., Starnes, Sara E., Besmer, Sherri, Pinz, Hailey, Braddock, Stephen R., Andreone, Teresa L.
Publicado 2021

Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study

por Chambers, Christina D., Johnson, Diana L., Xu, Ronghui, Luo, Yunjun, Lopez-Jimenez, Janina, Adam, Margaret P., Braddock, Stephen R., Robinson, Luther K., Vaux, Keith, Lyons Jones, Kenneth
Publicado 2019

Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

por Johnson, Tyler B., Mechels, Keegan, Anderson, Ruth Ellen, Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.
Publicado 2018

Author Correction: Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

por Johnson, Tyler B., Mechels, Keegan, Anderson, Ruthellen H., Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.
Publicado 2020

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

por Wang, Raymond Y., Rudser, Kyle D., Dengel, Donald R., Evanoff, Nicholas, Steinberger, Julia, Movsesyan, Nina, Garrett, Robert, Christensen, Katherine, Boylan, Deborah, Braddock, Stephen R., Shinawi, Marwan, Gan, Qi, Montaño, Adriana M.
Publicado 2020

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

por Burton, Barbara K., Charrow, Joel, Hoganson, George E., Fleischer, Julie, Grange, Dorothy K., Braddock, Stephen R., Hitchins, Lauren, Hickey, Rachel, Christensen, Katherine M., Groepper, Daniel, Shryock, Heather, Smith, Pamela, Shao, Rong, Basheeruddin, Khaja
Publicado 2020

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

por Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W., Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T., Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M., Lee, Brendan H.L., Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco
Publicado 2015

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

por Akula, Shyam K., Chen, Allen Y., Neil, Jennifer E., Shao, Diane D., Mo, Alisa, Hylton, Norma K., DiTroia, Stephanie, Ganesh, Vijay S., Smith, Richard S., O’Kane, Katherine, Yeh, Rebecca C., Marciano, Jack H., Kirkham, Samantha, Kenny, Connor J., Song, Janet H. T., Al Saffar, Muna, Millan, Francisca, Harris, David J., Murphy, Andrea V., Klemp, Kara C., Braddock, Stephen R., Brand, Harrison, Wong, Isaac, Talkowski, Michael E., O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H., Doan, Ryan N., Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A.
Publicado 2023

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

por Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Haskins Olney, Ann, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Köhler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke
Publicado 2012

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

por Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-Mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Stephen, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, McKinnon, Margaret, Addor, Marie-Claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, Dobyns, William B.
Publicado 2016

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

por Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan
Publicado 2021