Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

Autor Reinstein, Eyal, DeLozier, Celia Dawn, Simon, Ziv, Bannykh, Serguei, Rimoin, David L, Curry, Cynthia J
Vydáno 2013

Holoprosencephaly and Agnathia Spectrum: Presentation of Two New Patients and Review of the Literature

Autor Kauvar, Emily F., Solomon, Benjamin D., Curry, Cynthia J.R., van Essen, Anthonie J., Janssen, Nicole, Dutra, Amalia, Roessler, Erich, Muenke, Maximilian
Vydáno 2010

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Autor Aldinger, Kimberly A., Mendelsohn, Nancy J., Chung, Brian H.Y., Zhang, Wenjuan, Cohn, Daniel H., Fernandez, Bridget, Alkuraya, Fowzan S., Dobyns, William B., Curry, Cynthia J.
Vydáno v J Med Genet (2015)

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Autor Merrill, Amy E., Sarukhanov, Anna, Krejci, Pavel, Idoni, Brian, Camacho, Natalia, Estrada, Kristine D., Lyons, Karen M., Deixler, Hannah, Robinson, Haynes, Chitayat, David, Curry, Cynthia J., Lachman, Ralph S., Wilcox, William R., Krakow, Deborah
Vydáno 2012

Human-specific evolution of novel SRGAP2 genes by incomplete segmental duplication

Autor Dennis, Megan Y., Nuttle, Xander, Sudmant, Peter H., Antonacci, Francesca, Graves, Tina A., Nefedov, Mikhail, Rosenfeld, Jill A., Sajjadian, Saba, Malig, Maika, Kotkiewicz, Holland, Curry, Cynthia J., Shafer, Susan, Shaffer, Lisa G., de Jong, Pieter J., Wilson, Richard K., Eichler, Evan E.
Vydáno 2012

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27 and 21q2

Autor Dobyns, William B., Mirzaa, Ghayda, Christian, Susan L., Petras, Kristin, Roseberry, Jessica, Clark, Gary D., Curry, Cynthia J.R., McDonald-McGinn, Donna, Medne, Livija, Zackai, Elaine, Parsons, Julie, Zand, Dina J., Hisama, Fuki M., Walsh, Christopher A., Leventer, Richard J., Martin, Christa L., Gajecka, Marzena, Shaffer, Lisa G.
Vydáno 2008

Mutations in PIK3R1 Cause SHORT Syndrome

Autor Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Vydáno 2013

WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

Autor Laine, Christine M., Joeng, Kyu Sang, Campeau, Philippe M., Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T., Pekkinen, Minna, Wessman, Maija, Heino, Terhi J., Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G., Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R., Cohn, Daniel H., Gibbs, Richard A., Lee, Brendan H., Mäkitie, Outi
Vydáno 2013

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Autor Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E., Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J., Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N., Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z., Marshall, Christian R., Costain, Gregory, Wessels, Marja W., Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef
Vydáno v Front Mol Neurosci (2020)

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Autor Doyle, Alexander J., Doyle, Jefferson J., Bessling, Seneca L., Maragh, Samantha, Lindsay, Mark E., Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A., Huso, Nicholas D., Leahy, Dan, Mohr, David W., Caulfield, Mark J., Scott, Alan F., Destrée, Anne, Hennekam, Raoul C., Arn, Pamela H., Curry, Cynthia J., Van Laer, Lut, McCallion, Andrew S., Loeys, Bart L., Dietz, Harry C.
Vydáno 2012

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Autor Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.
Vydáno v Am J Hum Genet (2016)

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Autor Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Vydáno v Am J Hum Genet (2019)

A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

Autor Yamamoto, Shinya, Jaiswal, Manish, Charng, Wu-Lin, Gambin, Tomasz, Karaca, Ender, Mirzaa, Ghayda, Wiszniewski, Wojciech, Sandoval, Hector, Haelterman, Nele A., Xiong, Bo, Zhang, Ke, Bayat, Vafa, David, Gabriela, Li, Tongchao, Chen, Kuchuan, Gala, Upasana, Harel, Tamar, Pehlivan, Davut, Penney, Samantha, Vissers, Lisenka E. L. M., de Ligt, Joep, Jhangiani, Shalini, Xie, Yajing, Tsang, Stephen H., Parman, Yesim, Sivaci, Merve, Battaloglu, Esra, Muzny, Donna, Wan, Ying-Wooi, Liu, Zhandong, Lin-Moore, Alexander T., Clark, Robin D., Curry, Cynthia J., Link, Nichole, Schulze, Karen L., Boerwinkle, Eric, Dobyns, William B., Allikmets, Rando, Gibbs, Richard A., Chen, Rui, Lupski, James R., Wangler, Michael F., Bellen, Hugo J.
Vydáno v Cell (2014)

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

Autor 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
Vydáno v Am J Med Genet A (2013)

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

Autor 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.
Vydáno 2014

Redefining the Etiologic Landscape of Cerebellar Malformations

Autor Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Chi V., Collins, Sarah, Park, Kaylee, Zeiger, Jordan, Overmann, Lynne M., Alkuraya, Fowzan S., Biesecker, Leslie G., Braddock, Stephen R., Cathey, Sara, Cho, Megan T., Chung, Brian H.Y., Everman, David B., Zarate, Yuri A., Jones, Julie R., Schwartz, Charles E., Goldstein, Amy, Hopkin, Robert J., Krantz, Ian D., Ladda, Roger L., Leppig, Kathleen A., McGillivray, Barbara C., Sell, Susan, Wusik, Katherine, Gleeson, Joseph G., Nickerson, Deborah A., Bamshad, Michael J., Gerrelli, Dianne, Lisgo, Steven N., Seelig, Georg, Ishak, Gisele E., Barkovich, A. James, Curry, Cynthia J., Glass, Ian A., Millen, Kathleen J., Doherty, Dan, Dobyns, William B.
Vydáno v Am J Hum Genet (2019)

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

Autor 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.
Vydáno 2005

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Autor Johnston, Jennifer J., Sapp, Julie C., Turner, Joyce T., Amor, David, Aftimos, Salim, Aleck, Kyrieckos A., Bocian, Maureen, Bodurtha, Joann N., Cox, Gerald F., Curry, Cynthia J., Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M., Hedera, Peter, Hennekam, Raoul C.M., Hersh, Joseph H., Hopkin, Robert J., Kayserili, Hülya, Kidd, Alexa M.J., Kimonis, Virginia, Lin, Angela E., Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H., Rope, Alan F., Rosenbaum, Kenneth N., Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J., Steiner, Bernhard, Stephan, Mark J., Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I., Vasudevan, Pradeep C., Zabel, Bernhard, Zunich, Janice, Black, Graeme C.M., Biesecker, Leslie G.
Vydáno 2010