Spatial and cell type transcriptional landscape of human cerebellar development
Aldinger, Kimberly A., Thomson, Zachary, Phelps, Ian G., Haldipur, Parthiv, Deng, Mei, Timms, Andrew E., Hirano, Matthew, Santpere, Gabriel, Roco, Charles, Rosenberg, Alexander B., Lorente-Galdos, Belen, Gulden, Forrest O., O’Day, Diana, Overman, Lynne M., Lisgo, Steven N., Alexandre, Paula, Sestan, Nenad, Doherty, Dan, Dobyns, William B., Seelig, Georg, Glass, Ian A., Millen, Kathleen J.
Published in Nature neuroscience (01.08.2021)
Published in Nature neuroscience (01.08.2021)
Get full text
Journal Article
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
O'Roak, Brian J., Vives, Laura, Fu, Wenqing, Egertson, Jarrett D., Stanaway, Ian B., Phelps, Ian G., Carvill, Gemma, Kumar, Akash, Lee, Choli, Ankenman, Katy, Munson, Jeff, Hiatt, Joseph B., Turner, Emily H., Levy, Roie, O'Day, Diana R., Krumm, Niklas, Coe, Bradley P., Martin, Beth K., Borenstein, Elhanan, Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Akey, Joshua M., Bernier, Raphael, Eichler, Evan E., Shendure, Jay
Published in Science (American Association for the Advancement of Science) (21.12.2012)
Published in Science (American Association for the Advancement of Science) (21.12.2012)
Get full text
Journal Article
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, Gisele E., Ardern-Holmes, Simone, Richmond, Zara, Bamshad, Michael J., Ortiz-Gonzalez, Xilma R., Tartaglia, Marco, Chopra, Maya, Doherty, Dan
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
Get full text
Journal Article
Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy
Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W., Baker, Laura, Stephan, Mark J., Bernier, Francois P., Boycott, Kym M., Majewski, Jacek, Parboosingh, Jillian S., Innes, A. Micheil, Doherty, Dan
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
Get full text
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)
Get full text
Journal Article
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
Get full text
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)
Get full text
Journal Article
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, O'Roak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Neveen A, Doherty, Dan, Hildebrandt, Friedhelm
Published in Journal of medical genetics (01.03.2016)
Published in Journal of medical genetics (01.03.2016)
Get full text
Journal Article
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Vilboux, Thierry, Doherty, Daniel A., Glass, Ian A., Parisi, Melissa A., Phelps, Ian G., Cullinane, Andrew R., Zein, Wadih, Brooks, Brian P., Heller, Theo, Soldatos, Ariane, Oden, Neal L., Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James C., NISC Comparative Sequencing Program, Malicdan, May Christine V., Gahl, William A., Gunay-Aygun, Meral
Published in Genetics in medicine (01.08.2017)
Published in Genetics in medicine (01.08.2017)
Get full text
Journal Article
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
Oegema, Renske, Cushion, Thomas D, Phelps, Ian G, Chung, Seo-Kyung, Dempsey, Jennifer C, Collins, Sarah, Mullins, Jonathan G L, Dudding, Tracy, Gill, Harinder, Green, Andrew J, Dobyns, William B, Ishak, Gisele E, Rees, Mark I, Doherty, Dan
Published in Human molecular genetics (15.09.2015)
Published in Human molecular genetics (15.09.2015)
Get full text
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)
Get full text
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)
Get full text
Journal Article
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
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
Get full text
Journal Article
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
Get full text
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)
Get full text
Journal Article
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
Noble, Alexandra R, Masek, Markus, Hofmann, Claudia, Cuoco, Arianna, Rusterholz, Tamara D S, Özkoc, Hayriye, Greter, Nadja R, Phelps, Ian G, Vladimirov, Nikita, Kollmorgen, Sepp, Stoeckli, Esther, Bachmann-Gagescu, Ruxandra
Published in Biology open (14.10.2024)
Published in Biology open (14.10.2024)
Get full text
Journal Article
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, Doherty, Dan
Published in Journal of medical genetics (01.01.2016)
Published in Journal of medical genetics (01.01.2016)
Get full text
Journal Article
Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Bachmann-Gagescu, Ruxandra, Ishak, Gisele E, Dempsey, Jennifer C, Adkins, Jonathan, O'Day, Diana, Phelps, Ian G, Gunay-Aygun, Meral, Kline, Antonie D, Szczaluba, Krzysztof, Martorell, Loreto, Alswaid, Abdulrahman, Alrasheed, Shatha, Pai, Shashidhar, Izatt, Louise, Ronan, Anne, Parisi, Melissa A, Mefford, Heather, Glass, Ian, Doherty, Dan
Published in Journal of medical genetics (01.02.2012)
Published in Journal of medical genetics (01.02.2012)
Get full text
Journal Article
The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions
Tuz, Karina, Hsiao, Yi-Chun, Juárez, Oscar, Shi, Bingxing, Harmon, Erin Y., Phelps, Ian G., Lennartz, Michelle R., Glass, Ian A., Doherty, Dan, Ferland, Russell J.
Published in The Journal of biological chemistry (10.05.2013)
Published in The Journal of biological chemistry (10.05.2013)
Get full text
Journal Article