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Neurology|July 4, 2020
Neurocognitive benchmarks following transplant for emerging cerebral adrenoleukodystrophyElizabeth I Pierpont, David R Nascene, Ryan Shanley, et al.
American Journal of Medical Genetics. Part A|May 11, 2019
A report on state-wide implementation of newborn screening for X-linked AdrenoleukodystrophyKatie Wiens, Susan A Berry, Hyoung Choi, et al.
Neurology|August 16, 2024
Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy: Identification of Cerebral Disease and Association With Neurocognitive OutcomesElizabeth I Pierpont, René Labounek, Ashish Gupta, et al.
American Journal on Intellectual and Developmental Disabilities|April 29, 2017
The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice EffectsJamie O Edgin, Payal Anand, Tracie Rosser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2019
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomesJulie B Eisengart, Elizabeth I Pierpont, Alexander M Kaizer, et al.
Pediatrics|September 3, 2014
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelinesMary Ella M Pierpont, Pilar L Magoulas, Saleh Adi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
American Journal on Intellectual and Developmental Disabilities|November 14, 2018
Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition ProjectTracie C Rosser, Jamie O Edgin, George T Capone, et al.
American Journal of Medical Genetics. Part A|March 16, 2026
The 9th International RASopathies SymposiumPau Castel, Lisa Schoyer, Beth Stronach, et al.
American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.
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