JIMMY HOLDER JR to Female
This is a "connection" page, showing publications JIMMY HOLDER JR has written about Female.
Connection Strength
0.208
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Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression. J Neurodev Disord. 2019 08 08; 11(1):18.
Score: 0.024
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Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. Neurology. 2017 10 24; 89(17):e205-e209.
Score: 0.021
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The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. Epilepsia. 2016 Oct; 57(10):1651-1659.
Score: 0.019
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TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology. 2016 07 05; 87(1):77-85.
Score: 0.019
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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7.
Score: 0.016
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The transcriptional repressor DEC2 regulates sleep length in mammals. Science. 2009 Aug 14; 325(5942):866-70.
Score: 0.012
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An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome. HGG Adv. 2025 Apr 10; 6(2):100393.
Score: 0.009
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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25.
Score: 0.008
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Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab. 2004 Jul; 287(1):E105-13.
Score: 0.008
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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: 0.007
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SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons. J Neurosci. 2020 10 07; 40(41):7980-7994.
Score: 0.006
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Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet. 2000 Jan 01; 9(1):101-8.
Score: 0.006
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Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior. Elife. 2019 04 26; 8.
Score: 0.006
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.006
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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: 0.006
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An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555.
Score: 0.006
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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: 0.006
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Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018 08; 298(2):289-295.
Score: 0.005
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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: 0.005
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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: 0.005
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.004
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SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. Endocrinology. 2006 Oct; 147(10):4542-9.
Score: 0.002