Dan Doherty

Dan Doherty

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Dan Doherty

Dan Doherty

Publications by authors named "Dan Doherty"

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Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Am J Med Genet A 2019 Sep 11;179(9):1783-1790. Epub 2019 Jul 11.

Department of Pediatrics, Division of Genetic Medicine, University of Washington/Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61281DOI Listing
September 2019

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Am J Med Genet C Semin Med Genet 2018 12;178(4):432-439

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.

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http://dx.doi.org/10.1002/ajmg.c.31666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540982PMC
December 2018

Genetics of cerebellar disorders.

Handb Clin Neurol 2018 ;154:267-286

Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, United States.

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http://dx.doi.org/10.1016/B978-0-444-63956-1.00016-3DOI Listing
September 2018

Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.

Nat Cell Biol 2017 Oct 28;19(10):1178-1188. Epub 2017 Aug 28.

Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1038/ncb3599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695680PMC
October 2017

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Am J Hum Genet 2017 Aug;101(2):291-299

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544387PMC
August 2017

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

The genetics of cerebellar malformations.

Semin Fetal Neonatal Med 2016 10 7;21(5):321-32. Epub 2016 May 7.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.siny.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035570PMC
October 2016

Prenatal diagnosis of Chudley-McCullough syndrome.

Am J Med Genet A 2016 09 17;170(9):2426-30. Epub 2016 Jun 17.

Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37806DOI Listing
September 2016

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.

J Child Neurol 2016 Mar 16;31(3):309-20. Epub 2015 Jul 16.

Department of Neurology, University of Washington, Seattle, WA, USA Department of Pediatrics, University of Washington, Seattle, WA, USA Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

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http://dx.doi.org/10.1177/0883073815592222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990005PMC
March 2016

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

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia.

Neuroradiology 2016 Feb 12;58(2):179-87. Epub 2015 Oct 12.

Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00234-015-1604-7DOI Listing
February 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

Brainstem disconnection: two additional patients and expansion of the phenotype.

Neuropediatrics 2015 Apr 11;46(2):139-44. Epub 2015 Feb 11.

Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0034-1544127DOI Listing
April 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

Cerebellar hypoplasia: differential diagnosis and diagnostic approach.

Am J Med Genet C Semin Med Genet 2014 Jun 16;166C(2):211-26. Epub 2014 May 16.

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http://doi.wiley.com/10.1002/ajmg.c.31398
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http://dx.doi.org/10.1002/ajmg.c.31398DOI Listing
June 2014

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.

Lancet Neurol 2013 Apr 18;12(4):381-93. Epub 2013 Mar 18.

Division of Genetic Medicine, Department of Pediatrics, University of Washington Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

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http://dx.doi.org/10.1016/S1474-4422(13)70024-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158743PMC
April 2013

GPSM2 mutations in Chudley-McCullough syndrome.

Am J Med Genet A 2012 Nov 14;158A(11):2972-3. Epub 2012 Sep 14.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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http://dx.doi.org/10.1002/ajmg.a.35636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657751PMC
November 2012

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.

Acta Neuropathol 2012 May 14;123(5):695-709. Epub 2012 Feb 14.

Department of Neurological Surgery, Seattle Children's Research Institute, University of Washington, 98101, USA.

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http://link.springer.com/content/pdf/10.1007/s00401-012-0951
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http://link.springer.com/10.1007/s00401-012-0951-2
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http://dx.doi.org/10.1007/s00401-012-0951-2DOI Listing
May 2012

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

Wormless without wingless.

Nat Med 2011 Jun;17(6):663-5

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http://dx.doi.org/10.1038/nm0611-663DOI Listing
June 2011

Eye movement abnormalities in Joubert syndrome.

Invest Ophthalmol Vis Sci 2009 Oct 14;50(10):4669-77. Epub 2009 May 14.

Division of Ophthalmology, Children's Hospital and Regional Medical Center, Seattle, Washington 98115, USA.

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http://dx.doi.org/10.1167/iovs.08-3299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919872PMC
October 2009

Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Authors:
Dan Doherty

Semin Pediatr Neurol 2009 Sep;16(3):143-54

University of Washington and Seattle Children's Hospital, Seattle, WA, USA.

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http://dx.doi.org/10.1016/j.spen.2009.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2804071PMC
September 2009

Joubert syndrome (and related disorders) (OMIM 213300).

Eur J Hum Genet 2007 May 21;15(5):511-21. Epub 2007 Mar 21.

Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195-6320, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201648DOI Listing
May 2007

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

Prenat Diagn 2005 Jun;25(6):442-7

University of Washington/Children's Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA.

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http://dx.doi.org/10.1002/pd.1145DOI Listing
June 2005

Crab allergen exposures aboard five crab-processing vessels.

AIHA J (Fairfax, Va) 2002 Sep-Oct;63(5):605-9

Occupational and Environmental Medicine Program, Departments of Medicine and Environmental Health, University of Washington, Box 359739, 325 Ninth Ave., Seattle, WA 98104, USA.

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February 2003