Publications by authors named "Amy H Thompson"

4Publications

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Authors:
Brian P Brooks Wadih M Zein Amy H Thompson Maryam Mokhtarzadeh Daniel A Doherty Melissa Parisi Ian A Glass May C Malicdan Thierry Vilboux Meghana Vemulapalli James C Mullikin William A Gahl Meral Gunay-Aygun

Ophthalmology 2018 12 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

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December 2018

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Authors:
Brian P Brooks Amy H Thompson Jennifer L Sloan Irini Manoli Nuria Carrillo-Carrasco Wadih M Zein Charles P Venditti

Ophthalmology 2016 Mar 26;123(3):571-82. Epub 2016 Jan 26.

National Human Genome Research Institute, Genetics and Molecular Biology Branch, National Institutes of Health, Bethesda, Maryland.

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March 2016

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.

Authors:
Brian P Brooks Amy H Thompson Rachel J Bishop Janine A Clayton Chi-Chao Chan Ekaterini T Tsilou Wadih M Zein Deborah Tamura Sikandar G Khan Takahiro Ueda Jennifer Boyle Kyu-Seon Oh Kyoko Imoto Hiroki Inui Shin-Ichi Moriwaki Steffen Emmert Nicholas T Iliff Porcia Bradford John J Digiovanna Kenneth H Kraemer

Ophthalmology 2013 Jul 16;120(7):1324-36. Epub 2013 Apr 16.

National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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July 2013

Ocular manifestations of trichothiodystrophy.

Authors:
Brian P Brooks Amy H Thompson Janine A Clayton Chi-Chao Chan Deborah Tamura Wadih M Zein Delphine Blain Casey Hadsall John Rowan Kristen E Bowles Sikandar G Khan Takahiro Ueda Jennifer Boyle Kyu-Seon Oh John J DiGiovanna Kenneth H Kraemer

Ophthalmology 2011 Dec 28;118(12):2335-42. Epub 2011 Sep 28.

National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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December 2011