Co-Authors
This is a "connection" page, showing publications co-authored by HONGZHENG DAI and LINDSAY BURRAGE.
Connection Strength
1.314
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Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing. Hum Mol Genet. 2024 Sep 19; 33(19):1643-1647.
Score: 0.248
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A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. Hum Mutat. 2022 12; 43(12):1816-1823.
Score: 0.218
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A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.209
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.196
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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.
Score: 0.058
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30.
Score: 0.058
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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874.
Score: 0.052
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A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 02 08; 119(6).
Score: 0.052
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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).
Score: 0.048
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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6).
Score: 0.046
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Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(7).
Score: 0.046
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GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis. Neurol Genet. 2019 Dec; 5(6):e366.
Score: 0.044
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.039