Histone H2A monoubiquitination in neurodevelopmental disorders

Por Srivastava, Anshika, McGrath, Brian, Bielas, Stephanie L.
Publicado no Trends Genet (2017)

Off-target effect of doublecortin-family shRNA on neuronal migration associated with endogenous microRNA dysregulation

Por Baek, Seung Tae, Kerjan, Geraldine, Bielas, Stephanie L., Lee, Ji Eun, Fenstermaker, Ali G., Novarino, Gaia, Gleeson, Joseph G.
Publicado em 2014

Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum

Por Aleem, Alice Abdel, Abu-Shahba, Nourhan, Swistun, Dominika, Silhavy, Jennifer, Bielas, Stephanie L., Sattar, Shifteh, Gleeson, Joseph G., Zaki, Maha
Publicado em 2010

Spinophilin Facilitates PP1-Mediated Dephosphorylation of PSer297 Doublecortin in Microtubule Bundling at the Axonal “Wrist”

Por Bielas, Stephanie L., Serneo, Finley F., Chechlacz, Magdalena, Deerinck, Thomas J., Perkins, Guy A., Allen, Patrick B., Ellisman, Mark H., Gleeson, Joseph G.
Publicado em 2007

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Por Moccia, Amanda, Srivastava, Anshika, Skidmore, Jennifer M., Bernat, John A., Wheeler, Marsha, X.Chong, Jessica, Nickerson, Deborah, Bamshad, Michael, Hefner, Margaret A., Martin, Donna M., Bielas, Stephanie L.
Publicado no Genet Med (2018)

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

Por Srivastava, Anshika, Ritesh, K.C., Tsan, Yao-Chang, Liao, Rosy, Su, Fengyun, Cao, Xuhong, Hannibal, Mark C., Keegan, Catherine E., Chinnaiyan, Arul M., Martin, Donna M., Bielas, Stephanie L.
Publicado no Hum Mol Genet (2016)

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Por Harding, Brian N., Moccia, Amanda, Drunat, Séverine, Soukarieh, Omar, Tubeuf, Hélène, Chitty, Lyn S., Verloes, Alain, Gressens, Pierre, El Ghouzzi, Vincent, Joriot, Sylvie, Di Cunto, Ferdinando, Martins, Alexandra, Passemard, Sandrine, Bielas, Stephanie L.
Publicado no Am J Hum Genet (2016)

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Por Li, Hongda, Bielas, Stephanie L., Zaki, Maha S., Ismail, Samira, Farfara, Dorit, Um, Kyongmi, Rosti, Rasim O., Scott, Eric C., Tu, Shu, Chi, Neil C., Gabriel, Stacey, Erson-Omay, Emine Z., Ercan-Sencicek, A. Gulhan, Yasuno, Katsuhito, Çağlayan, Ahmet Okay, Kaymakçalan, Hande, Ekici, Barış, Bilguvar, Kaya, Gunel, Murat, Gleeson, Joseph G.
Publicado no Am J Hum Genet (2016)

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

Por 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.
Publicado em 2009

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

Por 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.
Publicado em 2008

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

Por 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.
Publicado em 2010

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Por Jordan, Valerie K., Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J., Balci, Tugce B., Carter, Melissa T., Bernat, John A., Moccia, Amanda N., Srivastava, Anshika, Martin, Donna M., Bielas, Stephanie L., Pappas, John, Svoboda, Melissa D., Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M., Scaglia, Fernando, Kohler, Jennefer N., Bernstein, Jonathan A., Dries, Annika M., Rosenfeld, Jill A., DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H., Bi, Weimin, Scott, Daryl A.
Publicado no Hum Mutat (2018)

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Por Lee, Ji Eun, Silhavy, Jennifer L., Zaki, Maha S., Schroth, Jana, Bielas, Stephanie L., Marsh, Sarah E., Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M., Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V., Glass, Ian A., Cluckey, Andrew, Louie, Carrie M., Lee, Jeong Ho, Raynes, Hilary R., Rapin, Isabelle, Castroviejo, Ignacio P., Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F., Hildebrandt, Friedhelm, Johnson, Colin A., Doherty, Daniel A., Valente, Enza Maria, Gleeson, Joseph G.
Publicado em 2012

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Por Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
Publicado em 2012

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Por Brancati, Francesco , Barrano, Giuseppe , Silhavy, Jennifer L. , Marsh, Sarah E. , Travaglini, Lorena , Bielas, Stephanie L. , Amorini, Maria , Zablocka, Dominika , Kayserili, Hulya , Al-Gazali, Lihadh , Bertini, Enrico , Boltshauser, Eugen , D’Hooghe, Marc , Fazzi, Elisa , Fenerci, Elif Y. , Hennekam, Raoul C. M. , Kiss, Andrea , Lees, Melissa M. , Marco, Elysa , Phadke, Shubha R. , Rigoli, Luciana , Romano, Stephane , Salpietro, Carmelo D. , Sherr, Elliott H. , Signorini, Sabrina , Stromme, Petter , Stuart, Bernard , Sztriha, Laszlo , Viskochil, David H. , Yuksel, Adnan , Dallapiccola, Bruno , Valente, Enza Maria , Gleeson, Joseph G. 
Publicado em 2007