Publications by authors named "Ellen F Macnamara"

7Publications

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Mol Genet Genomic Med 2020 Nov 7:e1544. Epub 2020 Nov 7.

Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/mgg3.1544DOI Listing
November 2020

The undiagnosed diseases program: Approach to diagnosis.

Transl Sci Rare Dis 2020 Apr 13;4(3-4):179-188. Epub 2020 Apr 13.

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

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http://dx.doi.org/10.3233/TRD-190045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250153PMC
April 2020

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017