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American Journal of Medical Genetics. Part A|November 19, 2024
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type ILauren O Grady, Emilie S Zoltick, Hana Zouk, et al.
American Journal of Medical Genetics. Part A|August 6, 2021
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypesAlanna Strong, Cara Skraban, Kevin Meyers, et al.
JAMA|April 20, 2006
Second-order peer review of the medical literature for clinical practitionersR Brian Haynes, Chris Cotoi, Jennifer Holland, et al.
American Journal of Medical Genetics. Part A|May 7, 2021
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213Alanna Strong, Gina O'Grady, Evelyn Shih, et al.
Conservation Biology : the Journal of the Society for Conservation Biology|July 26, 2007
Responses of Tuatara (Sphenodon punctatus) to removal of introduced Pacific rats from islandsDavid R Towns, G Richard Parrish, Claudine L Tyrrell, et al.
Scientific Reports|January 18, 2023
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohortAlanna Strong, Meckenzie Behr, Carina Lott, et al.
American Journal of Medical Genetics. Part A|October 16, 2021
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress responseAlanna Strong, Michael E March, Christopher J Cardinale, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
The Journal of Clinical Investigation|April 3, 2012
Activation of ER stress and mTORC1 suppresses hepatic sortilin-1 levels in obese miceDing Ai, Juan M Baez, Hongfeng Jiang, et al.
American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
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