DANIEL A DOHERTY
Affiliation: University of Washington
- GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty
Department of Pediatrics, University of Washington, Seattle Children s Hospital, 98105, USA
Am J Hum Genet 90:1088-93. 2012....
- Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRIDan Doherty
University of Washington Children s Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA
Prenat Diagn 25:442-7. 2005..To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI...
- Pediatric perspective on prenatal counseling for myelomeningoceleDaniel Doherty
Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA
Birth Defects Res A Clin Mol Teratol 76:645-53. 2006..Over the past 35 years, advances in the prenatal diagnosis of spina bifida using ultrasound and laboratory testing have increased the number of patients seeking prenatal counseling...
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)D Doherty
University of Washington, Seattle, WA 98195 0320, USA
J Med Genet 47:8-21. 2010..To identify genetic causes of COACH syndrome..
- Joubert syndrome: insights into brain development, cilium biology, and complex diseaseDan Doherty
University of Washington and Seattle Children s Hospital, Seattle, WA, USA
Semin Pediatr Neurol 16:143-54. 2009..The ciliopathies are emerging as models for more complex diseases, where sequence variants in multiple genes contribute to the phenotype expressed in any given patient...
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden
Division of Genetics and Developmental Medicine, Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 83:559-71. 2008..These observations extend the genetic spectrum of JSRD and provide a model system for studying extragenic modifiers in JSRD and other ciliopathies...
- Joubert syndrome (and related disorders) (OMIM 213300)Melissa A Parisi
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195 6320, USA
Eur J Hum Genet 15:511-21. 2007..Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified...
- Eye movement abnormalities in Joubert syndromeAvery H Weiss
Division of Ophthalmology, Children s Hospital and Regional Medical Center, Seattle, Washington 98115, USA
Invest Ophthalmol Vis Sci 50:4669-77. 2009..The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome...