Publications by authors named "Jason Carmichael"

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Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Suellen Jackson, Rebecca Freeman, Adriana Noronha, Hafsah Jamil, Eric Chavez, Jason Carmichael

Am J Med Genet A· May 2024

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A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Carolina I Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G Tise

Am J Med Genet A· August 2023

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Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
Calixto-Hope G Lucas, Emily A Sloan, Rohit Gupta, Jasper Wu, Drew Pratt, Jason Carmichael

Acta Neuropathol· October 2022

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O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-Them, Antonio Vitobello, Jason Carmichael

J Med Genet· July 2022

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Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
Indira Chandrasekar, Anne Tourney, Kamela Loo, Jason Carmichael, Kiely James

Am J Med Genet A· July 2021

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Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason L Carmichael

Am J Hum Genet· July 2021

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Does a picture speak louder than words? The role of infographics as a concussion education strategy.
Christine F Provvidenza, Laura R Hartman, Jason Carmichael, Nick Reed

J Vis Commun Med· July 2019

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De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Ganka Douglas, Megan T Cho, Aida Telegrafi, Susan Winter, Jason Carmichael

Am J Med Genet A· September 2018

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Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California.
Joseph J Shen, Jason Carmichael, Leoncio Vásquez Santos

J Genet Couns· August 2018

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Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Wan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Jason Carmichael

Neuron· January 2017

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De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Linshan Shang, Lindsay B Henderson, Megan T Cho, Donald S Petrey, Chin-To Fong, Jason Carmichael

Neurogenetics· January 2016

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Legislative responses to wrongful conviction: Do partisan principals and advocacy efforts influence state-level criminal justice policy?
Stephanie L Kent, Jason T Carmichael

Soc Sci Res· July 2015

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