Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
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.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
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.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Author Correction: Quiescence enables unrestricted cell fate in naive embryonic stem cells
Khoa, Le Tran Phuc, Yang, Wentao, Shan, Mengrou, Zhang, Li, Mao, Fengbiao, Zhou, Bo, Li, Qiang, Malcore, Rebecca, Harris, Clair, Zhao, Lili, Rao, Rajesh C., Iwase, Shigeki, Kalantry, Sundeep, Bielas, Stephanie L., Lyssiotis, Costas A., Dou, Yali
Published in Nature communications (12.03.2024)
Published in Nature communications (12.03.2024)
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Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation
Baek, Seung Tae, Kerjan, Geraldine, Bielas, Stephanie L., Lee, Ji Eun, Fenstermaker, Ali G., Novarino, Gaia, Gleeson, Joseph G.
Published in Neuron (Cambridge, Mass.) (18.06.2014)
Published in Neuron (Cambridge, Mass.) (18.06.2014)
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Quiescence enables unrestricted cell fate in naive embryonic stem cells
Khoa, Le Tran Phuc, Yang, Wentao, Shan, Mengrou, Zhang, Li, Mao, Fengbiao, Zhou, Bo, Li, Qiang, Malcore, Rebecca, Harris, Clair, Zhao, Lili, Rao, Rajesh C., Iwase, Shigeki, Kalantry, Sundeep, Bielas, Stephanie L., Lyssiotis, Costas A., Dou, Yali
Published in Nature communications (26.02.2024)
Published in Nature communications (26.02.2024)
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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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CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression
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.
Published in Scientific reports (15.10.2020)
Published in Scientific reports (15.10.2020)
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Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos
Lichtig, Hava, Artamonov, Artyom, Polevoy, Hanna, Reid, Christine D, Bielas, Stephanie L, Frank, Dale
Published in Frontiers in physiology (18.02.2020)
Published in Frontiers in physiology (18.02.2020)
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Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist
Bielas, Stephanie L., Serneo, Finley F., Chechlacz, Magdalena, Deerinck, Thomas J., Perkins, Guy A., Allen, Patrick B., Ellisman, Mark H., Gleeson, Joseph G.
Published in Cell (04.05.2007)
Published in Cell (04.05.2007)
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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.
Published in HGG advances (13.07.2023)
Published in HGG advances (13.07.2023)
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Histone H2A Monoubiquitination in Neurodevelopmental Disorders
Srivastava, Anshika, McGrath, Brian, Bielas, Stephanie L.
Published in Trends in genetics (01.08.2017)
Published in Trends in genetics (01.08.2017)
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H2A monoubiquitination: insights from human genetics and animal models
Ryan, Charles W., Peirent, Emily R., Regan, Samantha L., Guxholli, Alba, Bielas, Stephanie L.
Published in Human genetics (01.04.2024)
Published in Human genetics (01.04.2024)
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Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa
Sarkar, Mrinal K, Hile, Grace A, Tsoi, Lam C, Xing, Xianying, Liu, Jianhua, Liang, Yun, Berthier, Celine C, Swindell, William R, Patrick, Matthew T, Shao, Shuai, Tsou, Pei-Suen, Uppala, Ranjitha, Beamer, Maria A, Srivastava, Anshika, Bielas, Stephanie L, Harms, Paul W, Getsios, Spiro, Elder, James T, Voorhees, John J, Gudjonsson, Johann E, Kahlenberg, J Michelle
Published in Annals of the rheumatic diseases (01.11.2018)
Published in Annals of the rheumatic diseases (01.11.2018)
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Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation
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
Published in Cell stem cell (03.09.2020)
Published in Cell stem cell (03.09.2020)
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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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A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians
Kausthubham, Neethukrishna, Shukla, Anju, Gupta, Neerja, Bhavani, Gandham S., Kulshrestha, Samarth, Das Bhowmik, Aneek, Moirangthem, Amita, Bijarnia‐Mahay, Sunita, Kabra, Madhulika, Puri, Ratna D., Mandal, Kausik, Verma, Ishwar C., Bielas, Stephanie L., Phadke, Shubha R., Dalal, Ashwin, Girisha, Katta M.
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity
Pallavicini, Gianmarco, Moccia, Amanda, Iegiani, Giorgia, Parolisi, Roberta, Peirent, Emily R, Berto, Gaia Elena, Lorenzati, Martina, Tshuva, Rami Y, Ferraro, Alessia, Balzac, Fiorella, Turco, Emilia, Salvi, Shachi U, Myklebust, Hedvig F, Wang, Sophia, Eisenberg, Julia, Chitale, Maushmi, Girgla, Navjit S, Boda, Enrica, Reiner, Orly, Buffo, Annalisa, Di Cunto, Ferdinando, Bielas, Stephanie L
Published in The Journal of clinical investigation (01.11.2024)
Published in The Journal of clinical investigation (01.11.2024)
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Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Moccia, Amanda, Srivastava, Anshika, Skidmore, Jennifer M, Bernat, John A, Wheeler, Marsha, Chong, Jessica X, Nickerson, Deborah, Bamshad, Michael, Hefner, Margaret A, Martin, Donna M, Bielas, Stephanie L
Published in Genetics in medicine (01.09.2018)
Published in Genetics in medicine (01.09.2018)
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De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome
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
Published in Human molecular genetics (01.02.2016)
Published in Human molecular genetics (01.02.2016)
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