Histone H2A monoubiquitination in neurodevelopmental disorders

od Srivastava, Anshika, McGrath, Brian, Bielas, Stephanie L.
Izdano u Trends Genet (2017)

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

od Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju
Izdano u Eur J Med Genet (2018)

Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

od Lichtig, Hava, Artamonov, Artyom, Polevoy, Hanna, Reid, Christine D., Bielas, Stephanie L., Frank, Dale
Izdano u Front Physiol (2020)

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

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

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

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

Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes

od Ufford, Kathryn, Friedline, Sabrina, Tong, Zhaowen, Tang, Vi T., Dobbs, Amani S., Tsan, Yao-Chang, Bielas, Stephanie L., Liu, Allen P., Helms, Adam S.
Izdano u Stem Cell Reports (2021)

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

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

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

od Srivastava, Anshika, Srivastava, Kinshuk Raj, Hebbar, Malavika, Galada, Chelna, Kadavigrere, Rajagopal, Su, Fengyun, Cao, Xuhong, Chinnaiyan, Arul M., Girisha, Katta M., Shukla, Anju, Bielas, Stephanie L.
Izdano u Eur J Hum Genet (2018)

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

od 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.
Izdano u Genet Med (2018)

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

od 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.
Izdano u Hum Mol Genet (2016)

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

od 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.
Izdano u Am J Hum Genet (2016)

CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression

od Yao, Hui, Hannum, Douglas F., Zhai, Yiwen, Hill, Sophie F., Albanus, Ricardo D.’Oliveira, Lou, Wenjia, Skidmore, Jennifer M., Sanchez, Gilson, Saiakhova, Alina, Bielas, Stephanie L., Scacheri, Peter, Ljungman, Mats, Parker, Stephen C. J., Martin, Donna M.
Izdano u Sci Rep (2020)

Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation

od Khoa, Le Tran Phuc, Tsan, Yao-Chang, Mao, Fengbiao, Kremer, Daniel M., Sajjakulnukit, Peter, Zhang, Li, Zhou, Bo, Tong, Xin, Bhanu, Natarajan V., Choudhary, Chunaram, Garcia, Benjamin A., Yin, Lei, Smith, Gary D., Saunders, Thomas L., Bielas, Stephanie L., Lyssiotis, Costas A., Dou, Yali
Izdano u Cell Stem Cell (2020)

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

od 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.
Izdano u Am J Hum Genet (2016)

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

od 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.
Izdano 2009

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

od 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.
Izdano 2008

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

od 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.
Izdano 2010

Genotype–phenotype correlations in individuals with pathogenic RERE variants

od 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.
Izdano u Hum Mutat (2018)

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

od 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.
Izdano 2012

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

od 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.
Izdano 2012