Publications by authors named "Amanda Barone Pritchard"

5Publications

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Am J Med Genet A 2020 05 5;182(5):1104-1116. Epub 2020 Mar 5.

Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

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http://dx.doi.org/10.1002/ajmg.a.61531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202054PMC
May 2020

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

Orphanet J Rare Dis 2020 02 24;15(1):58. Epub 2020 Feb 24.

Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s13023-020-1328-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041253PMC
February 2020

What not to expect when you're expecting: Unusual cases of placental mosaicism detected on non-invasive prenatal screening.

Eur J Med Genet 2020 Jun 19;63(6):103895. Epub 2020 Feb 19.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ejmg.2020.103895DOI Listing
June 2020

Interstitial 4q Deletion Syndrome Including Causing Pseudohypoaldosteronism.

Mol Syndromol 2020 Jan 21;10(6):327-331. Epub 2019 Dec 21.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1159/000505279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995944PMC
January 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020