HONGZHENG DAI to Humans
This is a "connection" page, showing publications HONGZHENG DAI has written about Humans.
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0.080
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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: 0.017
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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: 0.005
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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 Jan; 194(1):17-30.
Score: 0.005
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Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory. Genet Med. 2023 06; 25(6):100830.
Score: 0.004
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 09 30; 14(1):113.
Score: 0.004
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Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 04; 262-263:53-56.
Score: 0.004
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.004
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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233.
Score: 0.004
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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: 0.004
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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: 0.004
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.004
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Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754.
Score: 0.004
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
Score: 0.004
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.003
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
Score: 0.003
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
Score: 0.003
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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: 0.003