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1

The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance

Naharros, Irene Ojeda, Cristian, Flavia B., Zang, Jingjing, Gesemann, Matthias, Ingham, Philip W., Neuhauss, Stephan C. F., Bachmann-Gagescu, Ruxandra

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 9.07 MB

english, 2018

2

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Ab

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 36 KB

english, 2014

3

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Ab

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.16 MB

english, 2014

4

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

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 639 KB

english, 2010

5

Myhre syndrome with ataxia and cerebellar atrophy

Bachmann-Gagescu, Ruxandra, Hisama, Fukie Marie, Yuen, Amy Lawson

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 211 KB

english, 2011

6

Grundlagen der medizinischen Genetik

Pajarola, Sandra, Bachmann, Ruxandra, Niedrist, Dunja, Rauch, Anita

Journal:

Year:

2013

Language:

german

File:

PDF, 66 KB

german, 2013

7

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, Doher

Journal:

Year:

2015

Language:

english

File:

PDF, 658 KB

english, 2015

8

Mortality in Joubert syndrome

Dempsey, Jennifer C., Phelps, Ian G., Bachmann-Gagescu, Ruxandra, Glass, Ian A., Tully, Hannah M., Doherty, Dan

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 377 KB

english, 2017

9

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

Phelps, Ian G, Dempsey, Jennifer C, Grout, Megan E, Isabella, Christine R, Tully, Hannah M, Doherty, Dan, Bachmann-Gagescu, Ruxandra

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.55 MB

english, 2017

10

Correlative Super-resolution and Electron Microscopy to Resolve Protein Localization in Zebrafish Retina

Mateos, José M., Barmettler, Gery, Doehner, Jana, Ojeda Naharros, Irene, Guhl, Bruno, Neuhauss, Stephan C.F., Kaech, Andres, Bachmann-Gagescu, Ruxandra, Ziegler, Urs

Journal:

Journal of Visualized Experiments

Year:

2017

Language:

english

File:

PDF, 408 KB

english, 2017

11

Complexité génétique des ciliopathies et identification de nouveaux gènes

Bachmann-Gagescu, Ruxandra

Journal:

médecine/sciences

Year:

2014

Language:

french

File:

PDF, 1.57 MB

french, 2014

12

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, Link, Brian A.

Journal:

Year:

2017

Language:

english

File:

PDF, 58.37 MB

english, 2017

13

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

Journal:

Year:

2015

Language:

english

File:

PDF, 12.73 MB

english, 2015

14

Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance

Ojeda Naharros, Irene, Cristian, Flavia B., Zang, Jingjing, Gesemann, Matthias, Ingham, Philip W., Neuhauss, Stephan C. F., Bachmann-Gagescu, Ruxandra

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 662 KB

english, 2018

15

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, Ales

Journal:

Molecular Medicine

Year:

2019

File:

PDF, 3.66 MB

2019

16

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, Ales

Journal:

Molecular Medicine

Year:

2019

Language:

english

File:

PDF, 3.66 MB

english, 2019

17

A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome

Bachmann‐Gagescu, Ruxandra

Journal:

The Journal of Pathology

Year:

2019

Language:

english

File:

PDF, 1.21 MB

english, 2019

18

The photoreceptor cilium and its diseases

Bachmann-Gagescu, Ruxandra, Neuhauss, Stephan CF

Journal:

Current Opinion in Genetics & Development

Year:

2019

Language:

english

File:

PDF, 1.54 MB

english, 2019