WEIMIN BI to Intellectual Disability
This is a "connection" page, showing publications WEIMIN BI has written about Intellectual Disability.
Connection Strength
1.553
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De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Hum Genet. 2018 Mar; 137(3):257-264.
Score: 0.353
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63.
Score: 0.161
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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004 Nov; 115(6):515-24.
Score: 0.139
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Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 2003 Dec; 73(6):1302-15.
Score: 0.131
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 12 01; 109(12):2270-2282.
Score: 0.122
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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res. 2002 May; 12(5):713-28.
Score: 0.117
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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: 0.108
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet Med. 2019 08; 21(8):1797-1807.
Score: 0.094
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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688.
Score: 0.082
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.082
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.079
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.041
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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 2002 May; 12(5):729-38.
Score: 0.029
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.015