Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

Por Rosenfeld, Jill A., Ballif, Blake C., Lucas, Ann, Spence, Edward J., Powell, Cynthia, Aylsworth, Arthur S., Torchia, Beth A., Shaffer, Lisa G.
Publicado em 2009

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Por Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S
Publicado em 2012

Survival of Children with Trisomy 13 and Trisomy 18: A Multi-State Population-Based Study

Por Meyer, Robert E., Liu, Gang, Gilboa, Suzanne M., Ethen, Mary K., Aylsworth, Arthur S., Powell, Cynthia M., Flood, Timothy J., Mai, Cara T., Wang, Ying, Canfield, Mark A.
Publicado no Am J Med Genet A (2015)

Diagnosis of Human Congenital Cytomegalovirus Infection by Amplification of Viral DNA from Dried Blood Spots on Perinatal Cards

Por Scanga, Lori, Chaing, Shu, Powell, Cynthia, Aylsworth, Arthur S., Harrell, Lizzie J., Henshaw, Nancy G., Civalier, Chris J., Thorne, Leigh B., Weck, Karen, Booker, Jessica, Gulley, Margaret L.
Publicado em 2006

Bayesian Multinomial Probit Modeling of Daily Windows of Susceptibility for Maternal PM(2.5) Exposure and Congenital Heart Defects

Por Warren, Joshua L., Stingone, Jeanette A., Herring, Amy H., Luben, Thomas J., Fuentes, Montserrat, Aylsworth, Arthur S., Langlois, Peter H., Botto, Lorenzo D., Correa, Adolfo, Olshan, Andrew F.
Publicado no Stat Med (2016)

A Population-Based Exploration of the Social Implications Associated with Cleft Lip and/or Palate

Por Glener, Adam D., Allori, Alexander C., Shammas, Ronnie L., Carlson, Anna R., Pien, Irene J., Aylsworth, Arthur S., Meyer, Robert, Pimenta, Luiz, Strauss, Ronald, Watkins, Stephanie, Marcus, Jeffrey R.
Publicado no Plast Reconstr Surg Glob Open (2017)

Maternal Exposure to Nitrogen Dioxide, Intake of Methyl Nutrients, and Congenital Heart Defects in Offspring

Por Stingone, Jeanette A., Luben, Thomas J., Carmichael, Suzan L., Aylsworth, Arthur S., Botto, Lorenzo D., Correa, Adolfo, Gilboa, Suzanne M., Langlois, Peter H., Nembhard, Wendy N., Richmond-Bryant, Jennifer, Shaw, Gary M., Olshan, Andrew F.
Publicado no Am J Epidemiol (2017)

Prenatal Alcohol Exposure in Relation to Autism Spectrum Disorder: Findings from the Study to Explore Early Development (SEED)

Por Singer, Alison B., Aylsworth, Arthur S., Cordero, Christina, Croen, Lisa A., DiGuiseppi, Carolyn, Fallin, M. Daniele, Herring, Amy H., Hooper, Stephen R., Pretzel, Rebecca E., Schieve, Laura A., Windham, Gayle C., Daniels, Julie L.
Publicado no Paediatr Perinat Epidemiol (2017)

Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type 1

Por Vance, Jeffery M., Pericak-Vance, Margaret A., Yamaoka, Larry H., Speer, Marcy C., Rosenwasser, George O. D., Small, Kent, Gaskell, P. C., Hung, Wu-Yen, Alberts, Mark J., Haynes, Carol S., Gilbert, John R., Aylsworth, Arthur S., Roses, Allen D.
Publicado em 1989

Maternal Exposure to Criteria Air Pollutants and Congenital Heart Defects in Offspring: Results from the National Birth Defects Prevention Study

Por Stingone, Jeanette A., Luben, Thomas J., Daniels, Julie L., Fuentes, Montserrat, Richardson, David B., Aylsworth, Arthur S., Herring, Amy H., Anderka, Marlene, Botto, Lorenzo, Correa, Adolfo, Gilboa, Suzanne M., Langlois, Peter H., Mosley, Bridget, Shaw, Gary M., Siffel, Csaba, Olshan, Andrew F.
Publicado em 2014

Further localization of X-linked hydrocephalus in the chromosomal region Xq28

Por Willems, Patrick J., Vits, Lieve, Raeymaekers, Peter, Beuten, Joke, Coucke, Paul, Holden, Jeanette J. A., Van Broeckhoven, Christine, Warren, Stephen T., Sagi, Michal, Robinson, David, Dennis, Nick, Friedman, Kenneth J., Magnay, Dorothy, Lyonnet, Stanislas, White, Bradley N., Wittwer, Bärbel H., Aylsworth, Arthur S., Reicke, Sigrid
Publicado em 1992

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Por Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S
Publicado no Eur J Hum Genet (2015)

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Por Kondo, Shinji, Schutte, Brian C., Richardson, Rebecca J., Bjork, Bryan C., Knight, Alexandra S., Watanabe, Yoriko, Howard, Emma, Ferreira de Lima, Renata L.L., Daack-Hirsch, Sandra, Sander, Achim, McDonald-McGinn, Donna M., Zackai, Elaine H., Lammer, Edward J., Aylsworth, Arthur S., Ardinger, Holly H., Lidral, Andrew C., Pober, Barbara R., Moreno, Lina, Arcos-Burgos, Mauricio, Valencia, Consuelo, Houdayer, Claude, Bahuau, Michel, Moretti-Ferreira, Danilo, Richieri-Costa, Antonio, Dixon, Michael J., Murray, Jeffrey C.
Publicado em 2002

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Por Korbel, Jan O., Tirosh-Wagner, Tal, Urban, Alexander Eckehart, Chen, Xiao-Ning, Kasowski, Maya, Dai, Li, Grubert, Fabian, Erdman, Chandra, Gao, Michael C., Lange, Ken, Sobel, Eric M., Barlow, Gillian M., Aylsworth, Arthur S., Carpenter, Nancy J., Clark, Robin Dawn, Cohen, Monika Y., Doran, Eric, Falik-Zaccai, Tzipora, Lewin, Susan O., Lott, Ira T., McGillivray, Barbara C., Moeschler, John B., Pettenati, Mark J., Pueschel, Siegfried M., Rao, Kathleen W., Shaffer, Lisa G., Shohat, Mordechai, Van Riper, Alexander J., Warburton, Dorothy, Weissman, Sherman, Gerstein, Mark B., Snyder, Michael, Korenberg, Julie R.
Publicado em 2009

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE)...

Por Schendel, Diana, DiGuiseppi, Carolyn, Croen, Lisa, Fallin, M Danielle, Reed, Philip L., Schieve, Laura, Wiggins, Lisa, Daniels, Julie, Grether, Judith, Levy, Susan, Miller, Lisa, Newschaffer, Craig, Pinto-Martin, Jennifer, Robinson, Cordelia, Windham, Gayle, Alexander, Aimee, Aylsworth, Arthur, Bernal, Pilar, Bonner, Joseph D., Blaskey, Lisa, Bradley, Chyrise, Collins, Jack, Ferretti, Casara, Farzadegan, Homayoon, Giarelli, Ellen, Harvey, Marques, Hepburn, Susan, Herr, Matthew, Kaparich, Kristina, Landa, Rebecca, Lee, Li-Ching, Levenseller, Brooke, Meyerer, Stacey, Rahbar, Mohammad H., Ratchford, Andria, Reynolds, Ann, Rosenberg, Steve, Rusyniak, Julie, Shapira, Stuart K., Smith, Karen, Souders, Margaret, AaronThompson, Patrick, Young, Lisa, Yeargin-Allsopp, Marshalyn
Publicado no J Autism Dev Disord (2012)

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Por Curry, Cynthia J, Rosenfeld, Jill A, Grant, Erica, Gripp, Karen W, Anderson, Carol, Aylsworth, Arthur S, Ben Saad, Taha, Chizhikov, Victor V, Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata JM, Ozmore, Jillian R, Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E, Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J, Barkovich, A James, Aradhya, Swaroop, Shaffer, Lisa G, Dobyns, William B
Publicado no Am J Med Genet A (2013)

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Por McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Publicado em 2014

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Por Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, Raoul C. M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.
Publicado em 2005