Healthcare recommendations for Joubert syndrome
Bachmann‐Gagescu, Ruxandra, Dempsey, Jennifer C., Bulgheroni, Sara, Chen, Maida L., D'Arrigo, Stefano, Glass, Ian A., Heller, Theo, Héon, Elise, Hildebrandt, Friedhelm, Joshi, Nirmal, Knutzen, Dana, Kroes, Hester Y., Mack, Stephen H., Nuovo, Sara, Parisi, Melissa A., Snow, Joseph, Summers, Angela C., Symons, Jordan M., Zein, Wadih M., Boltshauser, Eugen, Sayer, John A., Gunay‐Aygun, Meral, Valente, Enza Maria, Doherty, Dan
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Journal Article
Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition
Masek, Markus, Etard, Christelle, Hofmann, Claudia, Hülsmeier, Andreas J., Zang, Jingjing, Takamiya, Masanari, Gesemann, Matthias, Neuhauss, Stephan C. F., Hornemann, Thorsten, Strähle, Uwe, Bachmann-Gagescu, Ruxandra
Published in Nature communications (11.03.2022)
Published in Nature communications (11.03.2022)
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Journal Article
Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction
Djebar, Morgane, Anselme, Isabelle, Pezeron, Guillaume, Bardet, Pierre-Luc, Cantaut-Belarif, Yasmine, Eschstruth, Alexis, López-Santos, Diego, Le Ribeuz, Hélène, Jenett, Arnim, Khoury, Hanane, Veziers, Joelle, Parmentier, Caroline, Hirschler, Aurélie, Carapito, Christine, Bachmann-Gagescu, Ruxandra, Schneider-Maunoury, Sylvie, Vesque, Christine
Published in eLife (10.10.2024)
Published in eLife (10.10.2024)
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Journal Article
Mortality in Joubert syndrome
Dempsey, Jennifer C., Phelps, Ian G., Bachmann‐Gagescu, Ruxandra, Glass, Ian A., Tully, Hannah M., Doherty, Dan
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
Maggi, Jordi, Koller, Samuel, Feil, Silke, Bachmann-Gagescu, Ruxandra, Gerth-Kahlert, Christina, Berger, Wolfgang
Published in International journal of molecular sciences (13.06.2024)
Published in International journal of molecular sciences (13.06.2024)
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Journal Article
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes
Maggi, Jordi, Feil, Silke, Gloggnitzer, Jiradet, Maggi, Kevin, Bachmann-Gagescu, Ruxandra, Gerth-Kahlert, Christina, Koller, Samuel, Berger, Wolfgang
Published in International journal of molecular sciences (03.09.2024)
Published in International journal of molecular sciences (03.09.2024)
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Journal Article
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza, Rauch, Anita
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Journal Article
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Rusterholz, Tamara D. S., Hofmann, Claudia, Bachmann-Gagescu, Ruxandra
Published in Frontiers in genetics (30.06.2022)
Published in Frontiers in genetics (30.06.2022)
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Journal Article
KIAA0586 is Mutated in Joubert Syndrome
Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Dempsey, Jennifer C., Sharma, Vivek A., Ishak, Gisele E., Boyle, Evan A., Wilson, Meredith, Marques Lourenço, Charles, Arslan, Mutluay, Shendure, Jay, Doherty, Dan
Published in Human mutation (01.09.2015)
Published in Human mutation (01.09.2015)
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Journal Article
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Van De Weghe, Julie C., Rusterholz, Tamara D.S., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Maddirevula, Sateesh, Cheng, Yong-Han H., Phelps, Ian G., Gesemann, Matthias, Goel, Himanshu, Birk, Ohad S., Alanzi, Talal, Rawashdeh, Rifaat, Khan, Arif O., Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Dobyns, William B., Alkuraya, Fowzan S., Roepman, Ronald, Bachmann-Gagescu, Ruxandra, Doherty, Dan
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Journal Article
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Begemann, Anaïs, Acuña, Mario A, Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, Rauch, Anita
Published in Molecular medicine (Cambridge, Mass.) (27.02.2019)
Published in Molecular medicine (Cambridge, Mass.) (27.02.2019)
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Journal Article
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Stearns, George, Link, Brian A., Brockerhoff, Susan E., Moens, Cecilia B., Doherty, Dan
Published in Human molecular genetics (15.10.2011)
Published in Human molecular genetics (15.10.2011)
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Journal Article
Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors
Ojeda Naharros, Irene, Gesemann, Matthias, Mateos, José M, Barmettler, Gery, Forbes, Austin, Ziegler, Urs, Neuhauss, Stephan C F, Bachmann-Gagescu, Ruxandra
Published in PLoS genetics (27.12.2017)
Published in PLoS genetics (27.12.2017)
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Journal Article
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
Bachmann-Gagescu, Ruxandra, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A, van Beersum, Sylvia E C, Phelps, Ian G, Arts, Heleen H, Keunen, Jan E, Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B, Neuhauss, Stephan C F, Kremer, Hannie, van Wijk, Erwin
Published in PLoS genetics (01.10.2015)
Published in PLoS genetics (01.10.2015)
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Journal Article
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
Ansar, Muhammad, Ebstein, Frédéric, Özkoç, Hayriye, Paracha, Sohail A, Iwaszkiewicz, Justyna, Gesemann, Matthias, Zoete, Vincent, Ranza, Emmanuelle, Santoni, Federico A, Sarwar, Muhammad T, Ahmed, Jawad, Krüger, Elke, Bachmann-Gagescu, Ruxandra, Antonarakis, Stylianos E
Published in Human molecular genetics (08.05.2020)
Published in Human molecular genetics (08.05.2020)
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Journal Article
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish
Dona, Margo, Bachmann-Gagescu, Ruxandra, Texier, Yves, Toedt, Grischa, Hetterschijt, Lisette, Tonnaer, Edith L, Peters, Theo A, van Beersum, Sylvia E C, Bergboer, Judith G M, Horn, Nicola, de Vrieze, Erik, Slijkerman, Ralph W N, van Reeuwijk, Jeroen, Flik, Gert, Keunen, Jan E, Ueffing, Marius, Gibson, Toby J, Roepman, Ronald, Boldt, Karsten, Kremer, Hannie, van Wijk, Erwin
Published in PLoS genetics (01.10.2015)
Published in PLoS genetics (01.10.2015)
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Journal Article
The photoreceptor cilium and its diseases
Bachmann-Gagescu, Ruxandra, Neuhauss, Stephan CF
Published in Current opinion in genetics & development (01.06.2019)
Published in Current opinion in genetics & development (01.06.2019)
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Journal Article
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
Vintschger, Ella, Kraemer, Dennis, Joset, Pascal, Horn, Anselm H C, Rauch, Anita, Sticht, Heinrich, Bachmann-Gagescu, Ruxandra
Published in European journal of human genetics : EJHG (01.08.2023)
Published in European journal of human genetics : EJHG (01.08.2023)
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Journal Article