Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

par Rogers, R. Curtis, Aufmuth, Bridgette, Monesson, Stephanie
Publié 2011

Malformations Among the X-Linked Intellectual Disability Syndromes

par Stevenson, Roger E., Schwartz, Charles E., Rogers, R. Curtis
Publié 2013

Behavioral Features in Young Adults with FG Syndrome (Opitz-Kaveggia Syndrome)

par Graham, John M, Clark, Robin D, Moeschler, John B, Rogers, R. Curtis
Publié 2010

Seizures and X-linked intellectual disability

par Stevenson, Roger E., Holden, Kenton R., Rogers, R. Curtis, Schwartz, Charles E.
Publié 2012

Evidence that SIZN1 is a Candidate X-Linked Mental Retardation Gene

par Cho, Ginam, Bhat, Shambhu S, Gao, Jinsong, Collins, Julianne S, Rogers, R. Curtis, Simensen, Richard J, Schwartz, Charles E, Golden, Jeffrey A, Srivastava, Anand K
Publié 2008

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

par Pierce, Sarah B., Gulsuner, Suleyman, Stapleton, Gail A., Walsh, Tom, Lee, Ming K., Mandell, Jessica B., Morales, Augusto, Klevit, Rachel E., King, Mary-Claire, Rogers, R. Curtis
Publié dans Cold Spring Harb Mol Case Stud (2016)

CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α-GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

par Kishnani, Priya Sunil, Nicolino, Marc, Voit, Thomas, Rogers, R. Curtis, Tsai, Anne Chun-Hui, Waterson, John, Herman, Gail E., Amalfitano, Andreas, Thurberg, Beth L., Richards, Susan, Davison, Mark, Corzo, Deyanira, Chen, YT
Publié 2006

Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene

par Graham, John M, Visootsak, Jeannie, Dykens, Elisabeth, Huddleston, Lillie, Clark, Robin D, Jones, Kenneth L, Moeschler, John B, Opitz, John M, Morford, Jackie, Simensen, Richard, Rogers, R. Curtis, Schwartz, Charles E, Friez, Michael J, Stevenson, Roger E
Publié 2008

FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

par Clark, Robin Dawn, Graham, John M., Friez, Michael J., Hoo, Joe J., Jones, Kenneth Lyons, McKeown, Carole, Moeschler, John B., Raymond, F. Lucy, Rogers, R. Curtis, Schwartz, Charles E., Battaglia, Agatino, Lyons, Michael J., Stevenson, Roger E.
Publié 2009

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

par Schwartz, Charles E. , May, Melanie M. , Carpenter, Nancy J. , Rogers, R. Curtis , Martin, Judith , Bialer, Martin G. , Ward, Jewell , Sanabria, Javier , Marsa, Silvana , Lewis, James A. , Echeverri, Roberto , Lubs, Herbert A. , Voeller, Kytja , Simensen, Richard J. , Stevenson, Roger E. 
Publié 2005

Novel Pathogenic Variants in FOXP3 in Fetuses with Echogenic Bowel and Skin Desquamation Identified by Ultrasound

par Louie, Raymond J., Tan, Queenie K.-G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.
Publié dans Am J Med Genet A (2017)

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

par Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Publié 2012

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

par Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Publié 2012

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

par Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim
Publié dans Clin Epigenetics (2019)

KDM5A mutations identified in autism spectrum disorder using forward genetics

par El Hayek, Lauretta, Tuncay, Islam Oguz, Nijem, Nadine, Russell, Jamie, Ludwig, Sara, Kaur, Kiran, Li, Xiaohong, Anderton, Priscilla, Tang, Miao, Gerard, Amanda, Heinze, Anja, Zacher, Pia, Alsaif, Hessa S, Rad, Aboulfazl, Hassanpour, Kazem, Abbaszadegan, Mohammad Reza, Washington, Camerun, DuPont, Barbara R, Louie, Raymond J, Couse, Madeline, Faden, Maha, Rogers, R Curtis, Abou Jamra, Rami, Elias, Ellen R, Maroofian, Reza, Houlden, Henry, Lehman, Anna, Beutler, Bruce, Chahrour, Maria H
Publié dans eLife (2020)

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

par Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovich, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa
Publié 2011

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

par Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovic, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa
Publié 2012

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

par Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.
Publié dans Genet Med (2018)

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

par Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Publié dans Brain (2016)

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

par Rice, Gillian , Patrick, Teresa , Parmar, Rekha , Taylor, Claire F. , Aeby, Alec , Aicardi, Jean , Artuch, Rafael , Montalto, Simon Attard , Bacino, Carlos A. , Barroso, Bruno , Baxter, Peter , Benko, Willam S. , Bergmann, Carsten , Bertini, Enrico , Biancheri, Roberta , Blair, Edward M. , Blau, Nenad , Bonthron, David T. , Briggs, Tracy , Brueton, Louise A. , Brunner, Han G. , Burke, Christopher J. , Carr, Ian M. , Carvalho, Daniel R. , Chandler, Kate E. , Christen, Hans-Jürgen , Corry, Peter C. , Cowan, Frances M. , Cox, Helen , D’Arrigo, Stefano , Dean, John , De Laet, Corinne , De Praeter, Claudine , Déry, Catherine , Ferrie, Colin D. , Flintoff, Kim , Frints, Suzanna G. M. , Garcia-Cazorla, Angels , Gener, Blanca , Goizet, Cyril , Goutières, Françoise , Green, Andrew J. , Guët, Agnès , Hamel, Ben C. J. , Hayward, Bruce E. , Heiberg, Arvid , Hennekam, Raoul C. , Husson, Marie , Jackson, Andrew P. , Jayatunga, Rasieka , Jiang, Yong-Hui , Kant, Sarina G. , Kao, Amy , King, Mary D. , Kingston, Helen M. , Klepper, Joerg , van der Knaap, Marjo S. , Kornberg, Andrew J. , Kotzot, Dieter , Kratzer, Wilfried , Lacombe, Didier , Lagae, Lieven , Landrieu, Pierre Georges , Lanzi, Giovanni , Leitch, Andrea , Lim, Ming J. , Livingston, John H. , Lourenco, Charles M. , Lyall, E. G. Hermione , Lynch, Sally A. , Lyons, Michael J. , Marom, Daphna , McClure, John P. , McWilliam, Robert , Melancon, Serge B. , Mewasingh, Leena D. , Moutard, Marie-Laure , Nischal, Ken K. , Østergaard, John R. , Prendiville, Julie , Rasmussen, Magnhild , Rogers, R. Curtis , Roland, Dominique , Rosser, Elisabeth M. , Rostasy, Kevin , Roubertie, Agathe , Sanchis, Amparo , Schiffmann, Raphael , Scholl-Bürgi, Sabine , Seal, Sunita , Shalev, Stavit A. , Corcoles, C. Sierra , Sinha, Gyan P. , Soler, Doriette , Spiegel, Ronen , Stephenson, John B. P. , Tacke, Uta , Tan, Tiong Yang , Till, Marianne , Tolmie, John L. , Tomlin, Pam , Vagnarelli, Federica , Valente, Enza Maria , Van Coster, Rudy N. A. , Van der Aa, Nathalie , Vanderver, Adeline , Vles, Johannes S. H. , Voit, Thomas , Wassmer, Evangeline , Weschke, Bernhard , Whiteford, Margo L. , Willemsen, Michel A. A. , Zankl, Andreas , Zuberi, Sameer M. , Orcesi, Simona , Fazzi, Elisa , Lebon, Pierre , Crow, Yanick J. 
Publié 2007