Search Results - "Phelps, Ian G."

Spatial and cell type transcriptional landscape of human cerebellar development by 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.

“…The human neonatal cerebellum is one-fourth of its adult size yet contains the blueprint required to integrate environmental cues with developing motor,…”
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders by 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

“…Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed…”
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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy by 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

“…Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we…”
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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy by 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

“…Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in…”
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The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking by Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Stearns, George, Link, Brian A., Brockerhoff, Susan E., Moens, Cecilia B., Doherty, Dan

“…Ciliopathies are a genetically and phenotypically heterogeneous group of human developmental disorders whose root cause is the absence or dysfunction of…”
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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome by 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

“…Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically…”
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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking by 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

“…Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of…”
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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies by 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

“…The term nephronophthisis-related ciliopathies (NPHP-RC) describes a group of rare autosomal-recessive cystic kidney diseases, characterised by broad genetic…”
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center by 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

“…Purpose: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations…”
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes by 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

“…Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations of cortical development (MCD), typically lissencephaly,…”
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KIAA0586 is Mutated in Joubert Syndrome by 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

“…ABSTRACT Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. JS is part of a group of…”
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish by 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

“…Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment…”
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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity by Phelps, Ian G, Dempsey, Jennifer C, Grout, Megan E, Isabella, Christine R, Tully, Hannah M, Doherty, Dan, Bachmann-Gagescu, Ruxandra

“…Purpose Next-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive…”
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Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis by Pan, Luyuan, Shah, Arish N, Phelps, Ian G, Doherty, Dan, Johnson, Eric A, Moens, Cecilia B

“…Targeting Induced Local Lesions IN Genomes (TILLING) is a reverse genetics approach to directly identify point mutations in specific genes of interest in…”
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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome by 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

“…Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert…”
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Mortality in Joubert syndrome by Dempsey, Jennifer C., Phelps, Ian G., Bachmann‐Gagescu, Ruxandra, Glass, Ian A., Tully, Hannah M., Doherty, Dan

“…Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. Little is known…”
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Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system by 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

“…Joubert Syndrome (JBTS) is a neurodevelopmental ciliopathy defined by a highly specific midbrain-hindbrain malformation, variably associated with additional…”
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MKS1 regulates ciliary INPP5E levels in Joubert syndrome by 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

“…Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes cause JS, and…”
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Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures by 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

“…Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements…”
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The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions by 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.

“…Mutations in AHI1 cause Joubert syndrome (JBTS), a neurodevelopmental ciliopathy, characterized by midbrain-hindbrain malformations and motor/cognitive…”
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