Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons
Asadollahi, R, Delvendahl, I, Muff, R, Tan, G, Rodríguez, D G, Turan, S, Russo, M, Oneda, B, Joset, P, Boonsawat, P, Masood, R, Mocera, M, Ivanovski, I, Baumer, A, Bachmann-Gagescu, R, Schlapbach, R, Rehrauer, H, Steindl, K, Begemann, A, Reis, A, Winkler, J, Winner, B, Müller, M, Rauch, A
Published in Human molecular genetics (19.06.2023)
Published in Human molecular genetics (19.06.2023)
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Journal Article
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing
Bachmann-Gagescu, R, Dempsey, J, Phelps, IG, Isabella, C, O'Day, D, O'Roak, B, Shendure, J, Glass, I, Doherty, D
Published in Cilia (London) (13.07.2015)
Published in Cilia (London) (13.07.2015)
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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Bachmann-Gagescu, Ruxandra, Mefford, Heather C., Cowan, Charles, Glew, Gwen M., Hing, Anne V., Wallace, Stephanie, Bader, Patricia I., Hamati, Aline, Reitnauer, Pamela J., Smith, Rosemarie, Stockton, David W., Muhle, Hiltrud, Helbig, Ingo, Eichler, Evan E., Ballif, Blake C., Rosenfeld, Jill, Tsuchiya, Karen D.
Published in Genetics in medicine (01.10.2010)
Published in Genetics in medicine (01.10.2010)
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