Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

per Friedman, Jennifer, Olvera, Jesus, Silhavy, Jennifer L., Gabriel, Stacey B., Gleeson, Joseph G.
Publicat 2012

Complete Genomic Sequence of Bacteriophage B3, a Mu-Like Phage of Pseudomonas aeruginosa

per Braid, Michael D., Silhavy, Jennifer L., Kitts, Christopher L., Cano, Raul J., Howe, Martha M.
Publicat 2004

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

per Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh
Publicat 2012

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

per Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh
Publicat 2012

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

per Roosing, Susanne, Rosti, Rasim O., Rosti, Basak, de Vrieze, Erik, Silhavy, Jennifer L., van Wijk, Erwin, Wakeling, Emma, Gleeson, Joseph G.
Publicat a Hum Genet (2016)

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

per Lancaster, Madeline A, Louie, Carrie M, Silhavy, Jennifer L, Sintasath, Louis, DeCambre, Marvalyn, Nigam, Sanjay K, Willert, Karl, Gleeson, Joseph G
Publicat 2009

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

per 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.
Publicat 2011

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

per Dixon-Salazar, Tracy, Silhavy, Jennifer L., Marsh, Sarah E., Louie, Carrie M., Scott, Lesley C., Gururaj, Aithala, Al-Gazali, Lihadh, Al-Tawari, Asma A., Kayserili, Hulya, Sztriha, László, Gleeson, Joseph G.
Publicat 2004

RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders

per Brancati, Francesco, Travaglini, Lorena, Zablocka, Dominika, Boltshauser, Eugen, Accorsi, Patrizia, Montagna, Giorgia, Silhavy, Jennifer L., Barrano, Giuseppe, Bertini, Enrico, Emma, Francesco, Rigoli, Luciana, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria
Publicat 2008

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

per 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.
Publicat 2013

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

per Lee, Jeong Ho, Huynh, My, Silhavy, Jennifer L, Kim, Sangwoo, Dixon-Salazar, Tracy, Heiberg, Andrew, Scott, Eric, Bafna, Vineet, Hill, Kiley J, Collazo, Adrienne, Funari, Vincent, Russ, Carsten, Gabriel, Stacey B, Mathern, Gary W, Gleeson, Joseph G
Publicat a Nat Genet (2012)

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

per 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
Publicat a J Med Genet (2017)

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

per 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.
Publicat a Am J Hum Genet (2016)

Mutations in CSPP1 Lead to Classical Joubert Syndrome

per 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.
Publicat 2014

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

per 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.
Publicat 2012

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

per Bielas, Stephanie L., Silhavy, Jennifer L., Brancati, Francesco, Kisseleva, Marina V., Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A., Zaki, Maha S., Abdel-Aleem, Alice, Rosti, Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C., Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J., Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W., Valente, Enza Maria, Gleeson, Joseph G.
Publicat 2009

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

per 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.
Publicat 2008

SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation

per 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., Babovic-Vuksanovic, Dusica, van Bokhoven, Hans, Wevers, Ron A, Raetz, Christian R.H., Freeze, Hudson H., Morava, Éva, Al-Gazali, Lihadh, Gleeson, Joseph G.
Publicat 2010

AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder

per Akizu, Naiara, Cantagrel, Vincent, Schroth, Jana, Cai, Na, Vaux, Keith, McCloskey, Douglas, Naviaux, Robert K., Vleet, Jeremy Van, Fenstermaker, Ali G., Silhavy, Jennifer L., Scheliga, Judith S., Toyama, Keiko, Morisaki, Hiroko, Sonmez, Fatma Mujgan, Celep, Figen, Oraby, Azza, Zaki, Maha S., Al-Baradie, Raidah, Faqeih, Eissa, Saleh, Mohammad, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stacey, Morisaki, Takayuki, Holmes, Edward W., Gleeson, Joseph G.
Publicat 2013

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

per 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.
Publicat a Sci Transl Med (2012)