DANIEL A DOHERTY

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome
    Dan Doherty
    Department of Pediatrics, University of Washington, Seattle Children s Hospital, 98105, USA
    Am J Hum Genet 90:1088-93. 2012
  2. ncbi request reprint Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
    Dan Doherty
    University of Washington Children s Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA
    Prenat Diagn 25:442-7. 2005
  3. ncbi request reprint Pediatric perspective on prenatal counseling for myelomeningocele
    Daniel Doherty
    Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA
    Birth Defects Res A Clin Mol Teratol 76:645-53. 2006
  4. pmc 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
  5. pmc Joubert syndrome: insights into brain development, cilium biology, and complex disease
    Dan Doherty
    University of Washington and Seattle Children s Hospital, Seattle, WA, USA
    Semin Pediatr Neurol 16:143-54. 2009
  6. pmc CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
    Nicholas 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
  7. ncbi request reprint 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
  8. doi request reprint Eye movement abnormalities in Joubert syndrome
    Avery H Weiss
    Division of Ophthalmology, Children s Hospital and Regional Medical Center, Seattle, Washington 98115, USA
    Invest Ophthalmol Vis Sci 50:4669-77. 2009

Research Grants

Collaborators

Detail Information

Publications8

  1. pmc GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome
    Dan Doherty
    Department of Pediatrics, University of Washington, Seattle Children s Hospital, 98105, USA
    Am J Hum Genet 90:1088-93. 2012
    ....
  2. ncbi request reprint Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
    Dan 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...
  3. ncbi request reprint Pediatric perspective on prenatal counseling for myelomeningocele
    Daniel 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...
  4. pmc 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..
  5. pmc Joubert syndrome: insights into brain development, cilium biology, and complex disease
    Dan 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...
  6. pmc CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
    Nicholas 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...
  7. ncbi request reprint 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...
  8. doi request reprint Eye movement abnormalities in Joubert syndrome
    Avery 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...

Research Grants1