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Publications Authored by Ian G Phelps | PubFacts
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20Publications

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Mortality in Joubert syndrome.

Am J Med Genet A 2017 May 28;173(5):1237-1242. Epub 2017 Mar 28.

Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38158DOI Listing
May 2017

Abnormal glycosylation in Joubert syndrome type 10.

Cilia 2017 23;6. Epub 2017 Mar 23.

NIH Undiagnosed Disease Program, Common Fund, Office of the Director, and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.

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http://dx.doi.org/10.1186/s13630-017-0048-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364566PMC
March 2017

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

J Med Genet 2016 Mar 16;53(3):208-14. Epub 2015 Dec 16.

Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057575PMC
http://dx.doi.org/10.1136/jmedgenet-2015-103304DOI Listing
March 2016

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

PLoS Genet 2015 Oct 20;11(10):e1005575. Epub 2015 Oct 20.

Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1005575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617701PMC
October 2015

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Hum Mol Genet 2015 Sep 30;24(18):5313-25. Epub 2015 Jun 30.

Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA,

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http://dx.doi.org/10.1093/hmg/ddv250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550818PMC
September 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis.

BMC Genomics 2015 Feb 14;16:83. Epub 2015 Feb 14.

Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, USA.

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http://dx.doi.org/10.1186/s12864-015-1263-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457992PMC
February 2015

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.

Hum Mol Genet 2011 Oct 4;20(20):4041-55. Epub 2011 Aug 4.

HHMI and Division of Basic Science, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1093/hmg/ddr332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177654PMC
October 2011