De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
JEONG HO LEE, HUYNH, My, FUNARI, Vincent, RUSS, Carsten, GABRIEL, Stacey B, MATHERN, Gary W, GLEESON, Joseph G, SILHAVY, Jennifer L, KIM, Sangwoo, DIARON-SALAZAR, Tracy, HEIBERG, Andrew, SCOTT, Eric, BAFNA, Vineet, HILL, Kiley J, COLLAZO, Adrienne
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
Akizu, Naiara, Cantagrel, Vincent, Schroth, Jana, Cai, Na, Vaux, Keith, McCloskey, Douglas, Naviaux, Robert K., Van Vleet, Jeremy, Fenstermaker, Ali G., Silhavy, Jennifer L., Scheliga, Judith S., Toyama, Keiko, Morisaki, Hiroko, Sonmez, Fatma M., Celep, Figen, Oraby, Azza, Zaki, Maha S., Al-Baradie, Raidah, Faqeih, Eissa A., Saleh, Mohammed A.M., Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stacey, Morisaki, Takayuki, Holmes, Edward W., Gleeson, Joseph G.
Published in Cell (01.08.2013)
Published in Cell (01.08.2013)
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Mutations in CSPP1 Lead to Classical Joubert Syndrome
Akizu, Naiara, Silhavy, Jennifer L., Rosti, Rasim Ozgur, Scott, Eric, Fenstermaker, Ali G., Schroth, Jana, Zaki, Maha S., Sanchez, Henry, Gupta, Neerja, Kabra, Madhulika, Kara, Majdi, Ben-Omran, Tawfeg, Rosti, Basak, Guemez-Gamboa, Alicia, Spencer, Emily, Pan, Roger, Cai, Na, Abdellateef, Mostafa, Gabriel, Stacey, Halbritter, Jan, Hildebrandt, Friedhelm, van Bokhoven, Hans, Gunel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R., Cazemier, J. Leonie, Weterman, Marian A., Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N. Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher R., Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G.
Published in Cell (24.04.2014)
Published in Cell (24.04.2014)
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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar, Kaya, Dobyns, William B., Zaki, Maha S., Gunel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Al-Gazali, Lihadh, Silhavy, Jennifer L, Kayserili, Hulya, Fazzi, Elisa, Bertini, Enrico, Bayoumi, Riad A, Abdel-Aleem, Alice, Travaglini, Lorena, Valente, Enza Maria, Gleeson, Joseph G, Field, Seth J, Sztriha, Laszlo, Boltshauser, Eugen, Majerus, Philip W, Brancati, Francesco, Schurmans, Stephane, Scott, Lesley C, Gayral, Stephanie, Jacoby, Monique, Dallapiccola, Bruno, Bielas, Stephanie L, Kisseleva, Marina V, Rosti, Rasim Ozgur, Swistun, Dominika, Zaki, Maha S
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Jerber, Julie, Zaki, Maha S., Al-Aama, Jumana Y., Rosti, Rasim Ozgur, Ben-Omran, Tawfeg, Dikoglu, Esra, Silhavy, Jennifer L., Caglar, Caner, Musaev, Damir, Albrecht, Beate, Campbell, Kevin P., Willer, Tobias, Almuriekhi, Mariam, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino, Gaia, El-Fishawy, Paul, Kayserili, Hulya, Meguid, Nagwa A., Scott, Eric M., Schroth, Jana, Silhavy, Jennifer L., Kara, Majdi, Khalil, Rehab O., Ben-Omran, Tawfeg, Ercan-Sencicek, A. Gulhan, Hashish, Adel F., Sanders, Stephan J., Gupta, Abha R., Hashem, Hebatalla S., Matern, Dietrich, Gabriel, Stacey, Sweetman, Larry, Rahimi, Yasmeen, Harris, Robert A., State, Matthew W., Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (19.10.2012)
Published in Science (American Association for the Advancement of Science) (19.10.2012)
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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
Rosti, Rasim Ozgur, Sotak, Bethany N, Bielas, Stephanie L, Bhat, Gifty, Silhavy, Jennifer L, Aslanger, Ayca Dilruba, Altunoglu, Umut, Bilge, Ilmay, Tasdemir, Mehmet, Yzaguirrem, Amanda D, Musaev, Damir, Infante, Sofia, Thuong, Whitney, Marin-Valencia, Isaac, Nelson, Stanley F, Kayserili, Hulya, Gleeson, Joseph G
Published in Journal of medical genetics (01.06.2017)
Published in Journal of medical genetics (01.06.2017)
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Exome sequencing can improve diagnosis and alter patient management
Dixon-Salazar, Tracy J, Silhavy, Jennifer L, Udpa, Nitin, Schroth, Jana, Bielas, Stephanie, Schaffer, Ashleigh E, Olvera, Jesus, Bafna, Vineet, Zaki, Maha S, Abdel-Salam, Ghada H, Mansour, Lobna A, Selim, Laila, Abdel-Hadi, Sawsan, Marzouki, Naima, Ben-Omran, Tawfeg, Al-Saana, Nouriya A, Sonmez, F Müjgan, Celep, Figen, Azam, Matloob, Hill, Kiley J, Collazo, Adrienne, Fenstermaker, Ali G, Novarino, Gaia, Akizu, Naiara, Garimella, Kiran V, Sougnez, Carrie, Russ, Carsten, Gabriel, Stacey B, Gleeson, Joseph G
Published in Science translational medicine (13.06.2012)
Published in Science translational medicine (13.06.2012)
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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Cantagrel, Vincent, Lefeber, Dirk J., Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L., Lehle, Ludwig, Hombauer, Hans, Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R., Dobyns, William B., Babovic-Vuksanovic, Dusica, van Bokhoven, Hans, Wevers, Ron A., Raetz, Christian R.H., Freeze, Hudson H., Morava, Éva, Al-Gazali, Lihadh, Gleeson, Joseph G.
Published in Cell (23.07.2010)
Published in Cell (23.07.2010)
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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
JI EUN LEE, SILHAVY, Jennifer L, SCHLOSSMAN, Andrew M, MERRIMAN, Barry, ATTIE-BITACH, Tania, LOGAN, Clare V, GLASS, Ian A, CLUCKEY, Andrew, LOUIE, Carrie M, JEONG HO LEE, RAYNES, Hilary R, RAPIN, Isabelle, ZAKI, Maha S, CASTROVIEJO, Ignacio P, SETOU, Mitsutoshi, BARBOT, Clara, BOLTSHAUSER, Eugen, NELSON, Stanley F, HILDEBRANDT, Friedhelm, JOHNSON, Colin A, ADOHERTY, Daniel, VALENTE, Enzamaria, GLEESON, Joseph G, SCHROTH, Jana, BIELAS, Stephanie L, MARSH, Sarah E, OLVERA, Jesus, BRANCATI, Francesco, IANNICELLI, Miriam, IKEGAMI, Koji
Published in Nature genetics (01.02.2012)
Published in Nature genetics (01.02.2012)
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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer, Ashleigh E, Breuss, Martin W, Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y, Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S, Rosti, Rasim O, Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C, Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L, Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A, Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N, Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B, Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G
Published in Nature genetics (01.08.2018)
Published in Nature genetics (01.08.2018)
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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
Marin-Valencia, Isaac, Novarino, Gaia, Johansen, Anide, Rosti, Basak, Issa, Mahmoud Y, Musaev, Damir, Bhat, Gifty, Scott, Eric, Silhavy, Jennifer L, Stanley, Valentina, Rosti, Rasim O, Gleeson, Jeremy W, Imam, Farhad B, Zaki, Maha S, Gleeson, Joseph G
Published in Journal of medical genetics (01.01.2018)
Published in Journal of medical genetics (01.01.2018)
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Impaired Wnt-β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
Silhavy, Jennifer L, Louie, Carrie M, Lancaster, Madeline A, DeCambre, Marvalyn, Gleeson, Joseph G, Nigam, Sanjay K, Sintasath, Louis, Willert, Karl
Published in Nature medicine (01.09.2009)
Published in Nature medicine (01.09.2009)
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Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Valente, Enza Maria, Gleeson, Joseph G, Silhavy, Jennifer L, Brancati, Francesco, Barrano, Giuseppe, Krishnaswami, Suguna Rani, Castori, Marco, Lancaster, Madeline A, Boltshauser, Eugen, Boccone, Loredana, Al-Gazali, Lihadh, Fazzi, Elisa, Signorini, Sabrina, Louie, Carrie M, Bellacchio, Emanuele, Related Disorders Study Group, International Joubert Syndrome, Bertini, Enrico, Dallapiccola, Bruno
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
Lancaster, Madeline A, Gopal, Dipika J, Kim, Joon, Saleem, Sahar N, Silhavy, Jennifer L, Louie, Carrie M, Thacker, Bryan E, Williams, Yuko, Zaki, Maha S, Gleeson, Joseph G
Published in Nature medicine (01.06.2011)
Published in Nature medicine (01.06.2011)
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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Afawi, Zaid, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Craiu, Dana, De Jonghe, Peter, Guerrero-Lopez, Rosa, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, José, Sterbová, Katalin, Suls, Arvid, Moller, Rikke S., Striano, Pasquale, Weber, Yvonne, Zara, Federico, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
Roosing, Susanne, Rosti, Rasim O., Rosti, Basak, de Vrieze, Erik, Silhavy, Jennifer L., van Wijk, Erwin, Wakeling, Emma, Gleeson, Joseph G.
Published in Human genetics (01.08.2016)
Published in Human genetics (01.08.2016)
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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
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