De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Hiatt, Susan M, Neu, Matthew B, Ramaker, Ryne C, Hardigan, Andrew A, Prokop, Jeremy W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K C, Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D, Suchy, Sharon F, Willaert, Rebecca, Wentzensen, Ingrid M, Wheeler, Patricia G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna C E, Wheless, James W, Lacassie, Yves, Myers, Richard M, Barsh, Gregory S, Sedlacek, Zdenek, Cooper, Gregory M
Published in PLoS genetics (30.11.2018)
Published in PLoS genetics (30.11.2018)
Get full text
Journal Article
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J., Irvine, Alan D., Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R., Burrows, Patricia E., Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K., Wilson, Ashley, Gardiner, Carol A., Dwight, Yim, Lord, David J.E., Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria del C., Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E., Salhi, Aicha, Tan, Oon T., Wargon, Orli, Mulliken, John B., Vikkula, Miikka
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
Get full text
Journal Article
Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer
Kaurah, Pardeep, MacMillan, Andrée, Boyd, Niki, Senz, Janine, De Luca, Alessandro, Chun, Nicki, Suriano, Gianpaolo, Zaor, Sonya, Van Manen, Lori, Gilpin, Cathy, Nikkel, Sarah, Connolly-Wilson, Mary, Weissman, Scott, Rubinstein, Wendy S, Sebold, Courtney, Greenstein, Robert, Stroop, Jennifer, Yim, Dwight, Panzini, Benoit, McKinnon, Wendy, Greenblatt, Marc, Wirtzfeld, Debrah, Fontaine, Daniel, Coit, Daniel, Yoon, Sam, Chung, Daniel, Lauwers, Gregory, Pizzuti, Antonio, Vaccaro, Carlos, Redal, Maria Ana, Oliveira, Carla, Tischkowitz, Marc, Olschwang, Sylviane, Gallinger, Steven, Lynch, Henry, Green, Jane, Ford, James, Pharoah, Paul, Fernandez, Bridget, Huntsman, David
Published in JAMA : the journal of the American Medical Association (06.06.2007)
Published in JAMA : the journal of the American Medical Association (06.06.2007)
Get full text
Journal Article
Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses
Applegarth, Derek A., Toone, Jennifer R., Rolland, Marie O., Black, Susan H., Yim, Dwight K. C., Bemis, Gardner
Published in Prenatal diagnosis (01.05.2000)
Published in Prenatal diagnosis (01.05.2000)
Get full text
Journal Article
Founder and Recurrent CDH1 mutations in families with Hereditary diffuse gastric Cancer. Editorial
KAURAH, Pardeep, MACMILLAN, Andrée, NIKKEL, Sarah, CONNOLLY-WILSON, Mary, WEISSMAN, Scott, RUBINSTEIN, Wendy S, SEBOLD, Courtney, GREENSTEIN, Robert, STROOP, Jennifer, YIM, Dwight, PANZINI, Benoit, MEKINNON, Wendy, BOYD, Niki, GREENBLATT, Marc, WIRTZFELD, Debrah, FONTAINE, Daniel, COIT, Daniel, YOON, Sam, CHUNG, Daniel, LAUWERS, Gregory, PIZZUTI, Antonio, VACCARO, Carlos, REDAL, Maria Ana, SENZ, Janine, OLIVEIRA, Carla, TISCHKOWITZ, Marc, OLSCHWANG, Sylviane, GALLINGER, Steven, LYNCH, Henry, GREEN, Jane, FORD, James, PHAROAH, Paul, FERNANDEZ, Bridget, HUNTSMAN, David, DE LUCA, Alessandro, KANGELARIS, Kirsten N, GRUBER, Stephen B, CHUN, Nicki, SURIANO, Gianpaolo, ZAOR, Sonya, VAN MANEN, Lori, GILPIN, Cathy
Published in JAMA : the journal of the American Medical Association (2007)
Get full text
Published in JAMA : the journal of the American Medical Association (2007)
Journal Article
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Hiatt, Susan, Neu, Matthew B, Ramaker, Ryne C, Hardigan, Andrew A, Prokop, Jeremy W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Dwight Kc Yim, Powis, Zoe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D, Suchy, Sharon F, Willaert, Rebecca, Wentzensen, Ingrid M, Wheeler, Patricia G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna Ce, Wheless, James W, Lacassie, Yves, Sedlacek, Zdenek, Myers, Richard M, Barsh, Gregory S, Cooper, Gregory M
Published in bioRxiv (29.07.2018)
Published in bioRxiv (29.07.2018)
Get full text
Paper