Publications by authors named "Elise Valkanas"

13 Publications

  • Page 1 of 1

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genet Med 2020 Sep 11;22(9):1478-1488. Epub 2020 Jun 11.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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September 2020

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Genet Med 2019 03 3;21(3):694-704. Epub 2018 Aug 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

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March 2019

Phenotypic evolution of UNC80 loss of function.

Am J Med Genet A 2016 12 11;170(12):3106-3114. Epub 2016 Aug 11.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.

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December 2016

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Genet Med 2016 12 2;18(12):1303-1307. Epub 2016 Jun 2.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.

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December 2016