Dan Doherty

Summary

Publications

  1. doi request reprint Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
    Renske Oegema
    Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Hum Mol Genet 24:5313-25. 2015
  2. pmc Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics
    Dan Doherty
    Division of Genetic Medicine, Department of Pediatrics, University of Washington Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, WA, USA
    Lancet Neurol 12:381-93. 2013
  3. doi request reprint Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences
    HANNAH M TULLY
    Department of Neurology, University of Washington, Seattle, WA, USA Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, WA, USA
    J Child Neurol 31:309-20. 2016
  4. doi request reprint Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis
    Luyuan Pan
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA, USA
    BMC Genomics 16:83. 2015
  5. doi request reprint Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
    Gordana Juric-Sekhar
    Department of Neurological Surgery, Seattle Children s Research Institute, University of Washington, 98101, USA
    Acta Neuropathol 123:695-709. 2012
  6. doi request reprint Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis
    HANNAH M TULLY
    Department of Neurology, University of Washington, Seattle, Washington, USA
    Mov Disord 28:2019-23. 2013
  7. doi request reprint Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia
    Jason N Nixon
    M S MA 7 220, Seattle Children s Hospital, PO Box 5371, Seattle, WA, 98145, USA
    Neuroradiology 58:179-87. 2016
  8. pmc Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy
    Kimberly A Aldinger
    Department of Pediatrics, University of Washington, Seattle, WA 98105, USA Seattle Children s Research Institute, Seattle, WA 98101, USA
    Am J Hum Genet 95:227-34. 2014
  9. 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
  10. doi request reprint Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis
    Luyuan Pan
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA, USA
    BMC Genomics 16:1263. 2015

Collaborators

Detail Information

Publications11

  1. doi request reprint Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
    Renske Oegema
    Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Hum Mol Genet 24:5313-25. 2015
    ..Identifying this highly characteristic phenotype is important due to the low recurrence risk compared with the other (recessive) cerebellar dysplasias and the apparent lack of non-neurological medical issues. ..
  2. pmc Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics
    Dan Doherty
    Division of Genetic Medicine, Department of Pediatrics, University of Washington Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, WA, USA
    Lancet Neurol 12:381-93. 2013
    ..These research advances may change the way in which we treat these patients in the future and will enhance the clinical acumen of the practising neurologist and thereby improve the diagnosis and treatment of these patients...
  3. doi request reprint Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences
    HANNAH M TULLY
    Department of Neurology, University of Washington, Seattle, WA, USA Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, WA, USA
    J Child Neurol 31:309-20. 2016
    ..We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms. ..
  4. doi request reprint Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis
    Luyuan Pan
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA, USA
    BMC Genomics 16:83. 2015
    ..Classical TILLING processes, based on enzymatic detection of mutations in heteroduplex PCR amplicons, are slow and labor intensive...
  5. doi request reprint Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
    Gordana Juric-Sekhar
    Department of Neurological Surgery, Seattle Children s Research Institute, University of Washington, 98101, USA
    Acta Neuropathol 123:695-709. 2012
    ..Our findings suggest that primary cilia are important for neural patterning, progenitor proliferation, cell migration, and axon guidance in the developing human brain and spinal cord...
  6. doi request reprint Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis
    HANNAH M TULLY
    Department of Neurology, University of Washington, Seattle, Washington, USA
    Mov Disord 28:2019-23. 2013
    ..We noted an unusual preponderance of head shaking in patients with rhombencephalosynapsis (RES). We sought to delineate the movements further and determine whether oculomotor and vestibular testing could reveal their cause...
  7. doi request reprint Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia
    Jason N Nixon
    M S MA 7 220, Seattle Children s Hospital, PO Box 5371, Seattle, WA, 98145, USA
    Neuroradiology 58:179-87. 2016
    ..The purpose of this study is to systematically characterize the cranial nerve and temporal bone findings in a cohort of children with this rare condition...
  8. pmc Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy
    Kimberly A Aldinger
    Department of Pediatrics, University of Washington, Seattle, WA 98105, USA Seattle Children s Research Institute, Seattle, WA 98101, USA
    Am J Hum Genet 95:227-34. 2014
    ..This work expands the phenotypic spectrum associated with the lamininopathy disorders and highlights the tissue-specific roles played by different laminin-encoding genes. ..
  9. 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
    ....
  10. doi request reprint Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis
    Luyuan Pan
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA, USA
    BMC Genomics 16:1263. 2015
    ..Classical TILLING processes, based on enzymatic detection of mutations in heteroduplex PCR amplicons, are slow and labor intensive...
  11. doi request reprint Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
    Ruxandra Bachmann-Gagescu
    Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195 6320, USA
    J Med Genet 49:126-37. 2012
    ..CC2D2A mutations are a relatively common cause of JS and also cause Meckel syndrome. The clinical consequences of CC2D2A mutations in patients with JS have been incompletely reported...