Gaucher disease type 2 — Homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions

Por Baris, Hagit N., Raas-Rothschild, Annick, Garty, Ben-Zion, Tor, Ruth, Klontz, Sarah, Tayebi, Nahid, Sidransky, Ellen, Cohen, Ian J.
Publicado em 2011

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Por Pode‐Shakked, Naomi, Barel, Ortal, Pode‐Shakked, Ben, Eliyahu, Aviva, Singer, Amihood, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Pras, Elon, Shohat, Mordechai
Publicado no Mol Genet Genomic Med (2019)

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

Por Raas-Rothschild, Annick, Cormier-Daire, Valerie, Bao, Ming, Genin, Emmanuelle, Salomon, Remi, Brewer, Kevin, Zeigler, Marsha, Mandel, Hanna, Toth, Steve, Roe, Bruce, Munnich, Arnold, Canfield, William M.
Publicado em 2000

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Por Bargal, Ruth, Cormier-Daire, Valerie, Ben-Neriah, Ziva, Le Merrer, Martine, Sosna, Jacob, Melki, Judith, Zangen, David H., Smithson, Sarah F., Borochowitz, Zvi, Belostotsky, Ruth, Raas-Rothschild, Annick
Publicado em 2009

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Por Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence
Publicado em 2005

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Por Raas-Rothschild, Annick, Wanders, Ronald J. A., Mooijer, Petra A. W., Gootjes, Jeannette, Waterham, Hans R., Gutman, Alisa, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Kondo, Naomi, Eshel, Gideon, Espeel, Marc, Roels, Frank, Korman, Stanley H.
Publicado em 2002

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

Por Reinstein, Eyal, Gutierrez-Fernandez, Ana, Tzur, Shay, Bormans, Concetta, Marcu, Shai, Tayeb-Fligelman, Einav, Vinkler, Chana, Raas-Rothschild, Annick, Irge, Dana, Landau, Meytal, Shohat, Mordechai, Puente, Xose S, Behar, Doron M, Lopez-Otın, Carlos
Publicado no Eur J Hum Genet (2016)

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Por Abou Jamra, Rami, Philippe, Orianne, Raas-Rothschild, Annick, Eck, Sebastian H., Graf, Elisabeth, Buchert, Rebecca, Borck, Guntram, Ekici, Arif, Brockschmidt, Felix F., Nöthen, Markus M., Munnich, Arnold, Strom, Tim M., Reis, Andre, Colleaux, Laurence
Publicado em 2011

Encephalopathy Caused by Ablation of Very Long Acyl Chain Ceramide Synthesis May Be Largely Due to Reduced Galactosylceramide Levels

Por Ben-David, Oshrit, Pewzner-Jung, Yael, Brenner, Ori, Laviad, Elad L., Kogot-Levin, Aviram, Weissberg, Itai, Biton, Inbal E., Pienik, Reut, Wang, Elaine, Kelly, Samuel, Alroy, Joseph, Raas-Rothschild, Annick, Friedman, Alon, Brügger, Britta, Merrill, Alfred H., Futerman, Anthony H.
Publicado em 2011

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Por Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M., Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal
Publicado no Front Genet (2019)

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Por Janecke, Andreas R, Xu, Ruijuan, Steichen-Gersdorf, Elisabeth, Waldegger, Siegfried, Entenmann, Andreas, Giner, Thomas, Krainer, Iris, Huber, Lukas A, Hess, Michael W, Frishberg, Yaacov, Barash, Hila, Tzur, Shay, Schreyer-Shafir, Nira, Sukenik–Halevy, Rivka, Zehavi, Tania, Raas-Rothschild, Annick, Mao, Cungui, Müller, Thomas
Publicado no Hum Mutat (2017)

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

Por Egunsola, Adetutu T., Bae, Yangjin, Jiang, Ming-Ming, Liu, David S., Chen-Evenson, Yuqing, Bertin, Terry, Chen, Shan, Lu, James T., Nevarez, Lisette, Magal, Nurit, Raas-Rothschild, Annick, Swindell, Eric C., Cohn, Daniel H., Gibbs, Richard A., Campeau, Philippe M., Shohat, Mordechai, Lee, Brendan H.
Publicado no J Clin Invest (2017)

Exome sequencing in Jewish and Arabic patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Por Vivante, Asaf, Ityel, Hadas, Pode-Shakked, Ben, Chen, Jing, Shril, Shirlee, van der Ven, Amelie T., Mann, Nina, Schmidt, Johanna Magdalena, Segel, Reeval, Aran, Adi, Zeharia, Avraham, Staretz-Chacham, Orna, Bar-Yosef, Omer, Raas-Rothschild, Annick, Landau, Yuval E., Lifton, Richard P., Anikster, Yair, Hildebrandt, Friedhelm
Publicado no Pediatr Nephrol (2017)

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Por Dagoneau, Nathalie, Scheffer, Deborah, Huber, Céline, Al-Gazali, Lihadh I., Di Rocco, Maja, Godard, Anne, Martinovic, Jelena, Raas-Rothschild, Annick, Sigaudy, Sabine, Unger, Sheila, Nicole, Sophie, Fontaine, Bertrand, Taupin, Jean-Luc, Moreau, Jean-François, Superti-Furga, Andrea, Le Merrer, Martine, Bonaventure, Jacky, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie
Publicado em 2004

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Por Abekhoukh, Sabiha, Sahin, H. Bahar, Grossi, Mauro, Zongaro, Samantha, Maurin, Thomas, Madrigal, Irene, Kazue-Sugioka, Daniele, Raas-Rothschild, Annick, Doulazmi, Mohamed, Carrera, Pilar, Stachon, Andrea, Scherer, Steven, Drula Do Nascimento, Maria Rita, Trembleau, Alain, Arroyo, Ignacio, Szatmari, Peter, Smith, Isabel M., Milà, Montserrat, Smith, Adam C., Giangrande, Angela, Caillé, Isabelle, Bardoni, Barbara
Publicado no Dis Model Mech (2017)

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Por Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie
Publicado em 2014

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Por Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie
Publicado em 2014

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Por Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.
Publicado no Am J Hum Genet (2016)

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

Por 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
Publicado no Brain (2016)