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

Bằng Friedman, Jennifer, Olvera, Jesus, Silhavy, Jennifer L., Gabriel, Stacey B., Gleeson, Joseph G.
Được phát hành 2012

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

Bằng Braid, Michael D., Silhavy, Jennifer L., Kitts, Christopher L., Cano, Raul J., Howe, Martha M.
Được phát hành 2004

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

Bằng Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh
Được phát hành 2012

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

Bằng Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh
Được phát hành 2012

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

Bằng Roosing, Susanne, Rosti, Rasim O., Rosti, Basak, de Vrieze, Erik, Silhavy, Jennifer L., van Wijk, Erwin, Wakeling, Emma, Gleeson, Joseph G.
Xuất bản năm Hum Genet (2016)

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

Bằng Lancaster, Madeline A, Louie, Carrie M, Silhavy, Jennifer L, Sintasath, Louis, DeCambre, Marvalyn, Nigam, Sanjay K, Willert, Karl, Gleeson, Joseph G
Được phát hành 2009

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

Bằng 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.
Được phát hành 2011

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

Bằng 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.
Được phát hành 2004

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

Bằng 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
Được phát hành 2008

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

Bằng 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.
Được phát hành 2013

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

Bằng 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
Xuất bản năm Nat Genet (2012)

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

Bằng 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
Xuất bản năm J Med Genet (2017)

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

Bằng 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.
Xuất bản năm Am J Hum Genet (2016)

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Bằng 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.
Được phát hành 2014

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

Bằng 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.
Được phát hành 2012

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

Bằng 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.
Được phát hành 2009

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

Bằng 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.
Được phát hành 2008

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

Bằng 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.
Được phát hành 2010

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

Bằng 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.
Được phát hành 2013

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Bằng 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.
Xuất bản năm Sci Transl Med (2012)