AMANDA GERARD to Humans
This is a "connection" page, showing publications AMANDA GERARD has written about Humans.
Connection Strength
0.089
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Intracranial calcifications simulating Aicardi-Gouti?res syndrome in PARS2-related mitochondrial disease. Am J Med Genet A. 2024 07; 194(7):e63589.
Score: 0.025
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MGA-related syndrome: A proposed novel disorder. HGG Adv. 2025 Jan 09; 6(1):100387.
Score: 0.006
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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nat Commun. 2024 Jan 08; 15(1):365.
Score: 0.006
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413.
Score: 0.006
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Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. Genet Med. 2023 03; 25(3):100350.
Score: 0.006
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Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 09; 188(9):2718-2723.
Score: 0.006
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517.
Score: 0.005
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 02; 43(2):266-282.
Score: 0.005
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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genet Med. 2022 01; 24(1):179-191.
Score: 0.005
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Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 05; 185(5):1388-1398.
Score: 0.005
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Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics. Genet Med. 2021 05; 23(5):950-955.
Score: 0.005
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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 12; 21(12):2713-2722.
Score: 0.004
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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018 12 03; 37(23).
Score: 0.004