JIMMY HOLDER JR to Haploinsufficiency
This is a "connection" page, showing publications JIMMY HOLDER JR has written about Haploinsufficiency.
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0.468
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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925.
Score: 0.144
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.125
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The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators. J Neurodev Disord. 2018 02 05; 10(1):6.
Score: 0.062
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 03 04; 108(3):502-516.
Score: 0.039
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A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2020 10; 25(10):2504-2516.
Score: 0.033
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SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits. Nat Neurosci. 2018 12; 21(12):1-13.
Score: 0.033
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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018; 9:31.
Score: 0.032