author-photo

Ian G. Phelps

University of Washington

26

Papers

1954

Citations

Citation Trend

Filter By

Papers (20) Sort By

Journal Conference Others

Mortality in Joubert syndrome

2017 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (16)
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

2017 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (47)
Abnormal glycosylation in Joubert syndrome type 10

2017 Cilia
Show All
- Source
- Cite
- Save
Citations (9)
MKS1 regulates ciliary INPP5E levels in Joubert syndrome

2016 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (35)
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

2016 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (31)
Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis

2015 BMC Genomics
Show All
- Source
- Cite
- Save
Citations (30)
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing

2015 Cilia
Show All
- Source
- Cite
- Save
Citations (1)
KIAA0586 is Mutated in Joubert Syndrome

2015 Human Mutation
Show All
- Source
- Cite
- Save
Citations (45)
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

2015 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (141)
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

2015 PLOS Genetics
Show All
- Source
- Cite
- Save
Citations (43)