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

le Rogers, R. Curtis, Aufmuth, Bridgette, Monesson, Stephanie
Foilsithe 2011

Malformations Among the X-Linked Intellectual Disability Syndromes

le Stevenson, Roger E., Schwartz, Charles E., Rogers, R. Curtis
Foilsithe 2013

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

le Graham, John M, Clark, Robin D, Moeschler, John B, Rogers, R. Curtis
Foilsithe 2010

Seizures and X-linked intellectual disability

le Stevenson, Roger E., Holden, Kenton R., Rogers, R. Curtis, Schwartz, Charles E.
Foilsithe 2012

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

le 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
Foilsithe 2008

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

le 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
Foilsithe in Cold Spring Harb Mol Case Stud (2016)

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

le 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
Foilsithe 2006

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

le 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
Foilsithe 2008

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

le 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.
Foilsithe 2009

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

le 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. 
Foilsithe 2005

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

le 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.
Foilsithe in Am J Med Genet A (2017)

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

le 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
Foilsithe 2012

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

le 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
Foilsithe 2012

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

le 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
Foilsithe in Clin Epigenetics (2019)

KDM5A mutations identified in autism spectrum disorder using forward genetics

le 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
Foilsithe in 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

le 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
Foilsithe 2011

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

le 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
Foilsithe 2012

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

le 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.
Foilsithe in Genet Med (2018)

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

le 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
Foilsithe in Brain (2016)

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

le 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. 
Foilsithe 2007