Publications by authors named "Grace E VanNoy"

12Publications

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.

Kidney Int Rep 2020 Aug 23;5(8):1316-1319. Epub 2020 May 23.

Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.ekir.2020.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7403496PMC
August 2020

Infant mortality: the contribution of genetic disorders.

J Perinatol 2019 12 8;39(12):1611-1619. Epub 2019 Aug 8.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1038/s41372-019-0451-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879816PMC
December 2019

Challenging the Current Recommendations for Carrier Testing in Children.

Pediatrics 2019 01;143(Suppl 1):S27-S32

Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts;

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http://dx.doi.org/10.1542/peds.2018-1099FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433123PMC
January 2019

Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.

Am J Med Genet A 2018 03 19;176(3):560-569. Epub 2018 Jan 19.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38590DOI Listing
March 2018

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.

J Autoimmun 2018 01 21;86:116-119. Epub 2017 Sep 21.

Genetics and Genomics, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States; Division of Newborn Medicine, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.jaut.2017.09.003DOI Listing
January 2018