Assistant Professor of Pediatrics
Associate Fellowship Director, Pediatric Medical Biochemical Genetics
Associate Residency Director, Pediatric Medical Genetics and Genomics
Ann Arbor
MI
48109, United States
[email protected]
MI
48109, United States
Available to mentor
Amanda B Pritchard
Clinical Assistant Professor
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Pritchard A. 2024 Mar 14;PresentationThe "Eyes" Have It: Differential Diagnosis Clues on Ocular Exam
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Pritchard A. 2023 Oct 19;PresentationWhole Genome Sequencing in Pediatrics
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Pritchard A. 2023 Jul 27;PresentationInborn Errors of Metabolism for Pediatrics Boards
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Pritchard A. 2023 Jun 27;PresentationGenetics For Your Boards and Beyond
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Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE. Am J Med Genet A, 2023 May; 191 (5): 1261 - 1272.Journal ArticleTELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
DOI:10.1002/ajmg.a.63142 PMID: 36797513 -
Tinkle BT, Lacro RV, Burke LW, COUNCIL ON GENETICS . Pediatrics, 2023 Apr 1; 151 (4):Journal ArticleHealth Supervision for Children and Adolescents With Marfan Syndrome.
DOI:10.1542/peds.2023-061450 PMID: 36938616 -
Parekh B, Beil A, Blevins B, Jacobson A, Williams P, Innis JW, Barone Pritchard A, Prasov L. Genes (Basel), 2023 Mar 15; 14 (3):Journal ArticleDesign and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.
DOI:10.3390/genes14030726 PMID: 36980998 -
Kashima DT, Sloan-Heggen CM, Gottlieb-Smith RJ, Barone Pritchard A. Am J Med Genet A, 2023 Jun; 191 (6): 1614 - 1618.Journal ArticleAn atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
DOI:10.1002/ajmg.a.63176 PMID: 36891747