Late‐onset severe long QT syndrome

অনুযায়ী Asatryan, Babken, Schaller, André, Bartholdi, Deborah, Medeiros‐Domingo, Argelia
প্রকাশিত Ann Noninvasive Electrocardiol (2017)

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

অনুযায়ী Hofstaetter, Cornelia, Courage, Carolina, Bartholdi, Deborah, Biskup, Saskia, Raio, Luigi
প্রকাশিত Clin Case Rep (2018)

Further delineation of the SATB2 phenotype

অনুযায়ী Döcker, Dennis, Schubach, Max, Menzel, Moritz, Munz, Marita, Spaich, Christiane, Biskup, Saskia, Bartholdi, Deborah
প্রকাশিত Eur J Hum Genet (2014)

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

অনুযায়ী Döcker, Dennis, Schubach, Max, Menzel, Moritz, Spaich, Christiane, Gabriel, Heinz-Dieter, Zenker, Martin, Bartholdi, Deborah, Biskup, Saskia
প্রকাশিত Eur J Hum Genet (2015)

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

অনুযায়ী Bolognini, Ramona, Gerth-Kahlert, Christina, Abegg, Mathias, Bartholdi, Deborah, Mathis, Nicolas, Sturm, Veit, Gallati, Sabina, Schaller, André
প্রকাশিত BMC Med Genet (2017)

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

অনুযায়ী Bartholdi, Deborah, Roelfsema, Jeroen H, Papadia, Francesco, Breuning, Martijn H, Niedrist, Dunja, Hennekam, Raoul C, Schinzel, Albert, Peters, Dorien J M
প্রকাশিত 2007

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

অনুযায়ী Roelfsema, Jeroen H., White, Stefan J., Ariyürek, Yavuz, Bartholdi, Deborah, Niedrist, Dunja, Papadia, Francesco, Bacino, Carlos A., den Dunnen, Johan T., van Ommen, Gert-Jan B., Breuning, Martijn H., Hennekam, Raoul C., Peters, Dorien J. M.
প্রকাশিত 2005

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

অনুযায়ী Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
প্রকাশিত 2013

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

অনুযায়ী Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, Stavit A., Superti-Furga, Andrea, Delezoide, Anne-Lise, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
প্রকাশিত 2013

GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

অনুযায়ী Lemke, Johannes R, Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J, James, Victoria M, Pepler, Alex, Steiner, Isabelle, Hörtnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah
প্রকাশিত Ann Neurol (2014)

Coronin 1 Regulates Cognition and Behavior through Modulation of cAMP/Protein Kinase A Signaling

অনুযায়ী Jayachandran, Rajesh, Liu, Xiaolong, BoseDasgupta, Somdeb, Müller, Philipp, Zhang, Chun-Lei, Moshous, Despina, Studer, Vera, Schneider, Jacques, Genoud, Christel, Fossoud, Catherine, Gambino, Frédéric, Khelfaoui, Malik, Müller, Christian, Bartholdi, Deborah, Rossez, Helene, Stiess, Michael, Houbaert, Xander, Jaussi, Rolf, Frey, Daniel, Kammerer, Richard A., Deupi, Xavier, de Villartay, Jean-Pierre, Lüthi, Andreas, Humeau, Yann, Pieters, Jean
প্রকাশিত 2014

The clinical significance of small copy number variants in neurodevelopmental disorders

অনুযায়ী Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G, Rauch, Anita
প্রকাশিত 2014

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

অনুযায়ী Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael, Schinzel, Albert, Stoeckli, Esther T, Rauch, Anita
প্রকাশিত Eur J Hum Genet (2018)

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

অনুযায়ী Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A., Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C., Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B., Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo, Gelb, Bruce D., Tartaglia, Marco
প্রকাশিত 2009

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

অনুযায়ী Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., Johnson, Rachel, Stover, Jessi A., Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A., Mirzaa, Ghayda M., Nissen, Anke, Brigatti, Karlla W., Puffenberger, Erik G., Millen, Kathleen J., Strauss, Kevin A., Dobyns, William B., Troy, Carol M., Jinks, Robert N.
প্রকাশিত Am J Hum Genet (2016)

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

অনুযায়ী Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme
প্রকাশিত 2009

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

অনুযায়ী Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
প্রকাশিত Neurology (2016)

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

অনুযায়ী Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
প্রকাশিত 2013